Fragile X Syndrome (FXS)EXP-CTH120NCT06957054

Neural Biomarkers in Fragile X Syndrome

An observational study of Fragile X Syndrome (FXS) and Neurotypical Adults, run by Connecta Therapeutics, S.L. at 2 sites in Spain.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record

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Trial summary

The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults Read more about this study

Who is it for?: Ages 18 to 55 yearsHealthy volunteers can take part
Conditions the study is for: Fragile X Syndrome (FXS), Neurotypical Adults
What is being tested?: Any
How many people: 20 participants
Where: 2 sitesSpain
Study dates: 16 Dec 2024to 20 Mar 2025
Phase: Observational
Are there results?: None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 18 to 55 years
All sexes
Healthy volunteers accepted
Adult

Study population: Fragile X syndrome adult patients compared to neurotypical adults

Demographics common to all subjects:

Male or female subjects.
Age ≥ 18 and ≤ 55 years.
Weight ≥ 50 kg and ≤ 100 kg.
Body mass index (BMI) ≥ 18.5 and ≤ 30.

Subjects with Fragile X syndrome Inclusion Criteria:

Clinical and molecular diagnosis of Fragile X syndrome (> 200 CGG repeats in the promoter region of the FMR1 gene).
Legal representative understands and accepts the study procedures. If only one parent signs, he/she should confirm that the other parent does not object to the patient's participation in the research project.
Subject assenting and/or willing to participate.
Signed informed consent by a legal representative before any study-mandated procedure.
Subject is independently mobile and has sufficient vision and hearing to participate in study evaluations. They must be able to be understood most of the time and must not use other forms of communication, signs, symbol boards or devices as their primary form of communication.
Subjects must have a parent, or other reliable caregiver, who agrees to accompany the subject to all study visits, provide information about the subject as required by the protocol, and ensure compliance with study tests.
Subjects are expected to complete all procedures scheduled during the study visits.

Subjects with Fragile X syndrome Exclusion Criteria:

Personal history of infantile spasms/convulsions/epilepsy, severe head trauma or CNS infections (e.g. meningitis), with the exception of infantile febrile seizures.
Subjects with a current diagnosis including severe autism spectrum disorder or any primary psychiatric diagnosis according to DSM-5 (Diagnostic and Statistical Manual of Mental Disorders-DSM-5). Diagnoses that are secondary, such as attention deficit hyperactivity disorder, depressive disorders and conduct disorders are allowed as long as they are considered to not interfere with study conduct and are stable during the 3 months before inclusion. Related allowed treatments must be on stable dosing for the last 3 months.
Substance use disorder according to the DSM-5 criteria.
Epileptiform abnormalities (excluding isolated sharp waves and beyond those expected for age).
Any life-threatening disease.
Any other clinically relevant concomitant disease or condition or finding at screening that in the judgment of the investigator could interfere with, the treatment thereof might interfere with, the conduct of the study and related procedures and/or might bias the study results interpretation, or could jeopardize the subject's safety.
Any clinically significant findings in physical examination including vital signs.
Neuroleptic or antidepressant (ISRS) drugs within 3 months before inclusion, except for sertraline at a maximum 100 mg/day, and stable for the last 3 months before inclusion.
Any prescription or over-the-counter drug (except occasional use of paracetamol) in the last 2 weeks before screening.
Patient included in a clinical study with drugs in the last three months prior to inclusion.

Typically Developing Subjects Inclusion Criteria:

Abstinence for any drug abuse 72 hours prior to the screening visit and the observation days, except for nicotine (24 hours).
Able to read Spanish and/or Catalan and to adhere to the study requirements.
Signed informed consent prior to any study-mandated procedure.

Typically Developing Subjects Exclusion Criteria:

Life-time clinically significant cardiovascular, renal, pulmonary, hepatic, onco-haematological, endocrine, gastrointestinal, mental or neurological disease.
Any other clinically relevant concomitant disease or condition or finding at screening that in the judgment of the investigator could interfere with, the treatment thereof might interfere with, the conduct of the study and related procedures and/or might bias the study results interpretation, or could jeopardize the subject's safety.
Any clinically significant findings in physical examination including vital signs.
Neuroleptic drugs within 3 months prior to inclusion.
Any prescription or over-the-counter drug (except occasional use of paracetamol) in the last 2 weeks before screening.
Patient included in a clinical study with drugs in the last three months before inclusion.
Personal history of infantile spasms/convulsions/epilepsy, severe head trauma or CNS infections (e.g. meningitis), except for infantile febrile seizures.
Subjects with a current diagnosis including autism spectrum disorder or any primary psychiatric diagnosis according to DSM-5 (Diagnostic and Statistical Manual of Mental Disorders-DSM-5). Diagnoses that are secondary, such as attention deficit hyperactivity disorder, depressive disorders and conduct disorders are allowed as long as they are considered to not interfere with study conduct and are stable during the 3 months before inclusion. Related allowed treatments must be on stable dosing for the last 3 months.
Substance use disorder according to the DSM-5 criteria except for mild alcohol use disorder and/or mild or moderate nicotine use disorder.
Positive urine test for drugs of abuse or alcohol breath test at screening.
Epileptiform abnormalities (excluding isolated sharp waves and beyond those expected for age).
Any life-threatening disease.

Trial locations and contacts

2 sites in 1 country.

Spain2 sites

Hospital del Mar Research Institute (HMRI)
Barcelona, Barcelona, 08003
Consorci Corporació Sanitaria Parc Taulí. Institut Investigació i Innovació Parc Taulí (I3PT)
Sabadell, Barcelona, 08208

Other trials in Spain

About this study

Official title: Assessment of Neural Biomarkers in Adult Subjects With Fragile X Syndrome and Typically Developing Subjects

Read the detailed description

This study consists of a screening period and two cross sectional evaluations assessed in one month interval (test/re-test), first on the Visit 1 (Basal) and the other on the Visit 2 (end-of-study visit, EOS).

Conditions: Fragile X Syndrome (FXS), Neurotypical Adults
Being tested: Any
Keywords: Fragile X Syndrome, FXS, Fragile X, Neurodevelopmental Disorders, Central Nervous System Diseases, Intellectual Disability, Neurobehavioral Manifestations, Genetic Diseases, X-Linked, Congenital Abnormalities, Orphan Diseases, Rare Diseases, Neural biomarkers
Medical subject headings: Fragile X Syndrome, Neurodevelopmental Disorders, Central Nervous System Diseases, Intellectual Disability, Neurobehavioral Manifestations, Genetic Diseases, X-Linked, Congenital Abnormalities, Rare Diseases

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

AnyOther
Any

Study groups in NCT06957054
Study group	Role	What they receive
Group 1		Fragile X syndrome Receives: Other: Any
Group 2		Typically Developing Subjects Receives: Other: Any

What is being measured

The primary outcome is the main question the study is designed to answer.

Cognitive profile of FXS patients compared to neurotypical subjects using the NIH-TCB-ID Toolbox
The NIH-Toolbox Cognitive Battery for Intellectual Disabilities (NIH-TCB-ID) provides a reliable, validated and standardized measure (composite scores) that can be used as efficacy endpoints in clinical studies in patients with neurodevelopmental disorders from 3 to 85 years old. The Fluid Cognition composite score of the NIH Toolbox cognitive battery combines the scores of five tests assessing the following cognitive domains: i) Cognitive flexibility, ii) Inhibitory control and visual attention, iii) Episodic memory, iv) Processing speed and v) Working memory.
Measured: Day 1 and Day 28 (± 3 days)
Neural oscillations using Electroencephalography (EEG)
Multichannel EEG will be recorded using a mobile wireless helmet for high precision EEG monitoring. In total, 20 EEG channels will be used to capture brainwave activity.
The EEG test contains three well differentiated sections: auditory oddball, resting-state (eyes open and eyes closed) and auditory steady-state response (ASSR). Before starting the auditory oddball, the subject will conduct a training section (40 seconds) to present the type of sounds and to check that they have understood the task by practicing it.
Measured: Day 1
Point of gaze using eye tracking
Eye tracking technology will be used to record X and Y coordinates of eye position and pupil diameter. Stimuli will consist on 60 coloured photographs of adult human faces (equal numbers of males and females; different races and ethnicities), each face exhibiting a calm, happy, or fearful expression, and 60 scrambled versions of the face images. Testing will be conducted in a quiet room with the lights turned off. Each trial will start with presentation of a scrambled face image for 1 s followed immediately by its matched face image for 3 s. An inter-trial interval (ITI) containing a uniform grey screen will be shown for 0.5, 1, or 2 s, randomly determined. The order of face presentation will be pseudorandomized and each eye tracking session will last approximately 6 min.
Measured: Day 1 and Day 28 (± 3 days)
Behavior troubles of the FXS patients compared to neurotypical subjects using the Aberrant Behavior Checklist (ABC)
Standardized rating scale used for assessing problematic behavior of individuals with developmental disabilities. The questionnaire explores problem behaviors across 5 domains: Irritability (15 items), Lethargy/Socially Withdrawal (16 items), Stereotypy Behavior (7 items), Hyperactivity/Noncompliance (16 items), Inappropriate Speech (4 items). Each item is scored as 0 (never a problem), 1 (slight problem), 2 (moderately serious problem), or 3 (severe problem). For the present study the total score for each of the 5 domains or subscales will be calculated and used for the analyses, as a good measure of the psychiatric symptom and behavioral disturbance profile. In all cases, higher scores in the mentioned subscales and total score indicated a greater presence and severity of behavioral problems: Agitation [0-45]; Lethargy/Social Withdrawal [0-48]; Stereotypic Behavior [0-21]; Hyperactivity/Noncompliance [0-48] and Inappropriate Speech [0-12].
Measured: ≤ 1 month prior to Day 1
Adaptative functioning using the Vineland Adaptive Behaviour Scale (VABS-3)
The Vineland Adaptative Behaviour Scale 3 (VABS-3) is a psychometric instrument used in child and adolescent clinical psychology for the assessment of individuals with different types of developmental delays, regarding an adaptive level of functioning by standardized interview of the person or their caregiver through their activities of daily living such as walking, talking, getting dressed, going to school, preparing a meal, etc. Three domains explore communication, socialization and daily living, which correspond to the 3 domains of adaptive functioning recognized by the American Association on Intellectual and Developmental Disabilities.
Measured: ≤ 1 month prior to Day 1
Clinician-rated global functioning using the Clinical Global Impression (CGI)
The Clinical Global Impression Scale (CGI) comprises two companion one-item measures evaluating the following:
1. Severity of Psychopathology (Clinical Global Impression-Severity (CGI-S) Scale): establishes the baseline illness status and rates illness severity on a 7-point scale [range 0 to 7]: 1 for not at all ill; 2 for borderline illness; 3 for mild illness; 4 for moderately ill; 5 for very ill; 6 for severely ill; 7 among the most severe patients; and
2. Change from the Initiation of Treatment (Clinical Global Impression-Improvement (CGI-I) Scale): rates how much the subject's illness has improved or worsened relative to the baseline state (CGI-S) on a 7-point scale [range -7 to 7]: 1 = very much improved; 2 = much improved; 3 = minimally improved; 4 = no change; 5 = minimally worse; 6 = much worse; and 7 = very much worse.
Measured: ≤ 1 month prior to Day 1 and Day 28 (± 3 days)
Stress biomarkers of the FXS patients compared to neurotypical subjects measured by cortisol concentrations in hair (occipital area)
Hair cortisol analysis characterizes chronic stress as a risk factor for chronic illness progression and is known as a biomarker of the effectiveness of stress reduction interventions. Approximately 3 cm of occipital hair will be collected at the Screening visit for the determination of cortisol concentrations [range 2.5 - 97.5 pg/mg].
Measured: ≤ 1 month prior to Day 1
Biorhythm characteristics of FXS patients compared to neurotypical subjects determining vitamin D (25-Hydroxy) concentrations in serum
Vitamin D concentrations are also useful due to lack of sunlight exposure is the primary reason for the worldwide epidemic of vitamin D deficiency. The lack of sunlight exposure is involved in serotonin and melatonin production. Venous blood samples will be collected by individual venepuncture or via an indwelling catheter to measure vitamin D (25-Hydroxy) concentrations in serum [25 - 150 ng/mL].
Measured: Day 1 and Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects determining 24h urine cortisol concentrations
The activation of the Hypothalamic Pituitary Adrenal (HPA) axis leads to the synthesis and release of cortisol, a glucocorticoid hormone that peaks in the early morning hours. 24-hour urine samples will be collected before Visit 1 and Visit 2 for the determination of cortisol concentrations [range 11.5 - 102.0 µg/24h].
Measured: Day 1 and Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using sleep diaries
Sleep schedule will be assessed by using sleep diaries to record the quality and quantity of sleep. A sleep diary allows recording when the subject goes to bed, when the subject wakes up during the night and when the subject wakes up in the morning. This will help to understand the sleep pattern and how much sleep the subject gets. It will also show how often the subject has interrupted sleep.
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: number of days
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the number of days [days].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of wear
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of wear [%].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: total steps
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the total steps [steps].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: steps per day
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the steps per day [steps/day].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: average of energy expenditure
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the average of energy expenditure [kcal/day].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of sedentary physical activity
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of sedentary physical activity [%].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of light physical activity
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of light physical activity [%].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of moderate physical activity
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of moderate physical activity [%].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of vigorous physical activity
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of vigorous physical activity [%].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of very vigorous physical activity
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of very vigorous physical activity [%].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: bedtime
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the bedtime [hh:mm].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: wake-up time
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the wake-up time [hh:mm].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: mean time in bed
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the mean time in bed [minutes].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: total mean sleep time
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the total mean sleep time [minutes].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: sleep efficiency
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the sleep efficiency [%].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: wake after sleep onset
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the wake after sleep onset [minutes].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: average of awakening
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the average of awakening [awakes].
Measured: From Day 1 to Day 28 (± 3 days)
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: hours spent awake at night
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the hours spent awake at night [minutes].
Measured: From Day 1 to Day 28 (± 3 days)
Quality of life of the FXS patients compared to neurotypical subjects using the Paediatric Quality of Life Inventory (PedsQL)
Health-related quality of life (HRQoL) is a multidimensional concept involving physical, psychological, social, and cognitive aspects of life. Individuals with Fragile X syndrome (FXS) experience a life-long disorder that impacts the HRQoL of the affected individual and their family. HRQoL has been correlated with established measures of functioning in FXS using the: i) Cognitive Functioning Scale [0-100], ii) Quality of Life Scale, which is composite of the following items: Physical health and activities [0-32], Emotional state [0-20], Social activities [range 0-20], School activities [0-20]; and iii) Family impact scale, which is composite of the following items: Physical health and activities [0-24], Emotional state [0-20], Social activities [0-16], Cognitive function [0-20], Communication [0-12], Preoccupation [0-20], Daily activities [0-12] and Family relationships [0-20].
Measured: ≤ 1 month prior to Day 1
Quality of sleep of the FXS patients compared to neurotypical subjects using Pittsburgh sleep quality index (PSQI)
The Pittsburgh sleep quality index (PSQI) consists in a self-report questionnaire that assesses sleep quality and quantity. The 19-item self-report questionnaire yields 7 component scores: i) subjective sleep quality [0-3], ii) sleep latency [0-3], ii) duration of the sleep [0-3], iii) habitual sleep efficiency [0-3], iv) sleep disturbances [0-3], v) use of sleeping medication [0-3], and vi) daytime dysfunction [0-3]. There are five additional questions that are completed by a bed partner if there is one.
Measured: Day 1 and Day 28 (± 3 days)
FMRP protein in peripheral blood of FXS patients in peripheral blood compared to neurotypical subjects
Venous blood samples will be obtained by extraction of peripheral blood from participants in a EDTA tube. The levels of FMRP in the FMR1 gene will be reported as a relative value of the mean levels calculated for control [range 0-1].
Measured: ≤ 1 month prior to Day 1
miRNA profile of FXS patients in plasma compared to neurotypical subjects
Venous blood samples will be obtained by extraction of peripheral blood from participants. For the determination of the miRNomic profile, 200 μL of human plasma will be processed using Plasma/Serum miRNeasy Serum/Plasma kit to extract RNA enriched in small RNAs.
Measured: Day 1 and Day 28 (± 3 days)

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

16 Dec 202420 Mar 2025

First posted4 May 2025
Study start16 Dec 2024
Primary completion20 Mar 2025
Study completion20 Mar 2025

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Publications (65)Papers the sponsor has linked to this study.
Other trials for Fragile X Syndrome (FXS)Studies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Observational
Observational model: Case-control
Time perspective: Prospective
Enrolment: 20 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT06957054
Sponsor's protocol ID: CTH-CTH120-EXP-01
Acronym: EXP-CTH120
Status last verified: Apr 2025
First submitted: 10 Apr 2025
Last updated: 4 May 2025
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No
Individual data sharing: No

Publications

Sotoudeh Anvari M, Vasei H, Najmabadi H, Badv RS, Golipour A, Mohammadi-Yeganeh S, Salehi S, Mohamadi M, Goodarzynejad H, Mowla SJ. Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing. Sci Rep. 2022 Mar 23;12(1):5011. doi: 10.1038/s41598-022-08916-4.
PubMed 35322102
Couto RR, Kubaski F, Siebert M, Felix TM, Brusius-Facchin AC, Leistner-Segal S. Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study. Neurol Genet. 2022 Oct 26;8(6):e200024. doi: 10.1212/NXG.0000000000200024. eCollection 2022 Dec.
PubMed 36313066
Lin SL. microRNAs and Fragile X Syndrome. Adv Exp Med Biol. 2015;888:107-21. doi: 10.1007/978-3-319-22671-2_7.
PubMed 26663181
Daly I, Pichiorri F, Faller J, Kaiser V, Kreilinger A, Scherer R, Muller-Putz G. What does clean EEG look like? Annu Int Conf IEEE Eng Med Biol Soc. 2012;2012:3963-6. doi: 10.1109/EMBC.2012.6346834.
PubMed 23366795
Castren M, Paakkonen A, Tarkka IM, Ryynanen M, Partanen J. Augmentation of auditory N1 in children with fragile X syndrome. Brain Topogr. 2003 Spring;15(3):165-71. doi: 10.1023/a:1022606200636.
PubMed 12705812
Kenny A, Wright D, Stanfield AC. EEG as a translational biomarker and outcome measure in fragile X syndrome. Transl Psychiatry. 2022 Jan 24;12(1):34. doi: 10.1038/s41398-022-01796-2.
PubMed 35075104
Varni JW, Limbers CA. The PedsQL 4.0 Generic Core Scales Young Adult Version: feasibility, reliability and validity in a university student population. J Health Psychol. 2009 May;14(4):611-22. doi: 10.1177/1359105309103580.
PubMed 19383661
Aman MG, Norris M, Kaat AJ, Andrews H, Choo TH, Chen C, Wheeler A, Bann C, Erickson C. Factor Structure of the Aberrant Behavior Checklist in Individuals with Fragile X Syndrome: Clarifications and Future Guidance. J Child Adolesc Psychopharmacol. 2020 Oct;30(8):512-521. doi: 10.1089/cap.2019.0177. Epub 2020 Aug 3.
PubMed 32746626
Prosser H, Moss S, Costello H, Simpson N, Patel P, Rowe S. Reliability and validity of the Mini PAS-ADD for assessing psychiatric disorders in adults with intellectual disability. J Intellect Disabil Res. 1998 Aug;42 ( Pt 4):264-72. doi: 10.1046/j.1365-2788.1998.00146.x.
PubMed 9786440
Shields RH, Kaat AJ, McKenzie FJ, Drayton A, Sansone SM, Coleman J, Michalak C, Riley K, Berry-Kravis E, Gershon RC, Widaman KF, Hessl D. Validation of the NIH Toolbox Cognitive Battery in intellectual disability. Neurology. 2020 Mar 24;94(12):e1229-e1240. doi: 10.1212/WNL.0000000000009131. Epub 2020 Feb 24.
PubMed 32094241
Buysse DJ, Reynolds CF 3rd, Monk TH, Berman SR, Kupfer DJ. The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research. Psychiatry Res. 1989 May;28(2):193-213. doi: 10.1016/0165-1781(89)90047-4.
PubMed 2748771
Tottenham N, Tanaka JW, Leon AC, McCarry T, Nurse M, Hare TA, Marcus DJ, Westerlund A, Casey BJ, Nelson C. The NimStim set of facial expressions: judgments from untrained research participants. Psychiatry Res. 2009 Aug 15;168(3):242-9. doi: 10.1016/j.psychres.2008.05.006. Epub 2009 Jun 28.
PubMed 19564050
Bailey DB Jr, Berry-Kravis E, Wheeler A, Raspa M, Merrien F, Ricart J, Koumaras B, Rosenkranz G, Tomlinson M, von Raison F, Apostol G. Mavoglurant in adolescents with fragile X syndrome: analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension study. J Neurodev Disord. 2016;8:1. doi: 10.1186/s11689-015-9134-5. Epub 2015 Dec 15.
PubMed 26855682
Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet. 2000 Jan;66(1):6-15. doi: 10.1086/302720.
PubMed 10631132
Zafarullah M, Li J, Salemi MR, Phinney BS, Durbin-Johnson BP, Hagerman R, Hessl D, Rivera SM, Tassone F. Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS. Int J Mol Sci. 2023 Aug 30;24(17):13477. doi: 10.3390/ijms241713477.
PubMed 37686279

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

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Study at a glance

From the registry record, last updated by the sponsor on 4 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Assessment of Neural Biomarkers in Adult Subjects With Fragile X Syndrome and Typically Developing Subjects
ClinicalTrials.gov ID: NCT06957054
Acronym / sponsor ID: EXP-CTH120 / CTH-CTH120-EXP-01
Conditions: Fragile X Syndrome (FXS), Neurotypical Adults
Keywords: Fragile X Syndrome, FXS, Fragile X, Neurodevelopmental Disorders, Central Nervous System Diseases, Intellectual Disability, Neurobehavioral Manifestations, Genetic Diseases, X-Linked
Study type: Observational
Recruitment status: Completed
Enrolment: 20 participants (actual)
Lead sponsor: Connecta Therapeutics, S.L.Industry (pharma, biotech, devices)
Collaborators: Hospital del Mar Research Institute (IMIM), Corporacion Parc Tauli, Ministry of Science and Innovation, Spain
Study start: 16 Dec 2024 (actual)
Primary completion: 20 Mar 2025 (actual)
Study completion: 20 Mar 2025 (actual)
First posted: 4 May 2025 (actual)
Results: Not posted in the source record

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Detailed description

Study design

Observational model: Case-control
Time perspective: Prospective
Number of arms: 2

Arm	Type	Receives
Group 1	–	Other: AnyFragile X syndrome
Group 2	–	Other: AnyTypically Developing Subjects

Who may qualify

Ages: 18 to 55 years
Sex: All
Healthy volunteers: Accepted
Age groups: Adult
Study population: Fragile X syndrome adult patients compared to neurotypical adults

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Interventions

Intervention	Type	Arms
AnyAny	Other	Group 1, Group 2

Primary outcome

Cognitive profile of FXS patients compared to neurotypical subjects using the NIH-TCB-ID Toolbox
Time frame: Day 1 and Day 28 (± 3 days)
The NIH-Toolbox Cognitive Battery for Intellectual Disabilities (NIH-TCB-ID) provides a reliable, validated and standardized measure (composite scores) that can be used as efficacy endpoints in clinical studies in patients with neurodevelopmental disorders from 3 to 85 years old. The Fluid Cognition composite score of the NIH Toolbox cognitive battery combines the scores of five tests assessing the following cognitive domains: i) Cognitive flexibility, ii) Inhibitory control and visual attention, iii) Episodic memory, iv) Processing speed and v) Working memory.
Neural oscillations using Electroencephalography (EEG)
Time frame: Day 1
Multichannel EEG will be recorded using a mobile wireless helmet for high precision EEG monitoring. In total, 20 EEG channels will be used to capture brainwave activity. The EEG test contains three well differentiated sections: auditory oddball, resting-state (eyes open and eyes closed) and auditory steady-state response (ASSR). Before starting the auditory oddball, the subject will conduct a training section (40 seconds) to present the type of sounds and to check that they have understood the task by practicing it.
Point of gaze using eye tracking
Time frame: Day 1 and Day 28 (± 3 days)
Eye tracking technology will be used to record X and Y coordinates of eye position and pupil diameter. Stimuli will consist on 60 coloured photographs of adult human faces (equal numbers of males and females; different races and ethnicities), each face exhibiting a calm, happy, or fearful expression, and 60 scrambled versions of the face images. Testing will be conducted in a quiet room with the lights turned off. Each trial will start with presentation of a scrambled face image for 1 s followed immediately by its matched face image for 3 s. An inter-trial interval (ITI) containing a uniform grey screen will be shown for 0.5, 1, or 2 s, randomly determined. The order of face presentation will be pseudorandomized and each eye tracking session will last approximately 6 min.
Behavior troubles of the FXS patients compared to neurotypical subjects using the Aberrant Behavior Checklist (ABC)
Time frame: ≤ 1 month prior to Day 1
Standardized rating scale used for assessing problematic behavior of individuals with developmental disabilities. The questionnaire explores problem behaviors across 5 domains: Irritability (15 items), Lethargy/Socially Withdrawal (16 items), Stereotypy Behavior (7 items), Hyperactivity/Noncompliance (16 items), Inappropriate Speech (4 items). Each item is scored as 0 (never a problem), 1 (slight problem), 2 (moderately serious problem), or 3 (severe problem). For the present study the total score for each of the 5 domains or subscales will be calculated and used for the analyses, as a good measure of the psychiatric symptom and behavioral disturbance profile. In all cases, higher scores in the mentioned subscales and total score indicated a greater presence and severity of behavioral problems: Agitation [0-45]; Lethargy/Social Withdrawal [0-48]; Stereotypic Behavior [0-21]; Hyperactivity/Noncompliance [0-48] and Inappropriate Speech [0-12].
Adaptative functioning using the Vineland Adaptive Behaviour Scale (VABS-3)
Time frame: ≤ 1 month prior to Day 1
The Vineland Adaptative Behaviour Scale 3 (VABS-3) is a psychometric instrument used in child and adolescent clinical psychology for the assessment of individuals with different types of developmental delays, regarding an adaptive level of functioning by standardized interview of the person or their caregiver through their activities of daily living such as walking, talking, getting dressed, going to school, preparing a meal, etc. Three domains explore communication, socialization and daily living, which correspond to the 3 domains of adaptive functioning recognized by the American Association on Intellectual and Developmental Disabilities.
Clinician-rated global functioning using the Clinical Global Impression (CGI)
Time frame: ≤ 1 month prior to Day 1 and Day 28 (± 3 days)
The Clinical Global Impression Scale (CGI) comprises two companion one-item measures evaluating the following: 1. Severity of Psychopathology (Clinical Global Impression-Severity (CGI-S) Scale): establishes the baseline illness status and rates illness severity on a 7-point scale [range 0 to 7]: 1 for not at all ill; 2 for borderline illness; 3 for mild illness; 4 for moderately ill; 5 for very ill; 6 for severely ill; 7 among the most severe patients; and 2. Change from the Initiation of Treatment (Clinical Global Impression-Improvement (CGI-I) Scale): rates how much the subject's illness has improved or worsened relative to the baseline state (CGI-S) on a 7-point scale [range -7 to 7]: 1 = very much improved; 2 = much improved; 3 = minimally improved; 4 = no change; 5 = minimally worse; 6 = much worse; and 7 = very much worse.
Stress biomarkers of the FXS patients compared to neurotypical subjects measured by cortisol concentrations in hair (occipital area)
Time frame: ≤ 1 month prior to Day 1
Hair cortisol analysis characterizes chronic stress as a risk factor for chronic illness progression and is known as a biomarker of the effectiveness of stress reduction interventions. Approximately 3 cm of occipital hair will be collected at the Screening visit for the determination of cortisol concentrations [range 2.5 - 97.5 pg/mg].
Biorhythm characteristics of FXS patients compared to neurotypical subjects determining vitamin D (25-Hydroxy) concentrations in serum
Time frame: Day 1 and Day 28 (± 3 days)
Vitamin D concentrations are also useful due to lack of sunlight exposure is the primary reason for the worldwide epidemic of vitamin D deficiency. The lack of sunlight exposure is involved in serotonin and melatonin production. Venous blood samples will be collected by individual venepuncture or via an indwelling catheter to measure vitamin D (25-Hydroxy) concentrations in serum [25 - 150 ng/mL].
Biorhythm characteristics of FXS patients compared to neurotypical subjects determining 24h urine cortisol concentrations
Time frame: Day 1 and Day 28 (± 3 days)
The activation of the Hypothalamic Pituitary Adrenal (HPA) axis leads to the synthesis and release of cortisol, a glucocorticoid hormone that peaks in the early morning hours. 24-hour urine samples will be collected before Visit 1 and Visit 2 for the determination of cortisol concentrations [range 11.5 - 102.0 µg/24h].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using sleep diaries
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep schedule will be assessed by using sleep diaries to record the quality and quantity of sleep. A sleep diary allows recording when the subject goes to bed, when the subject wakes up during the night and when the subject wakes up in the morning. This will help to understand the sleep pattern and how much sleep the subject gets. It will also show how often the subject has interrupted sleep.
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: number of days
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the number of days [days].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of wear
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of wear [%].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: total steps
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the total steps [steps].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: steps per day
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the steps per day [steps/day].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: average of energy expenditure
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the average of energy expenditure [kcal/day].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of sedentary physical activity
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of sedentary physical activity [%].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of light physical activity
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of light physical activity [%].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of moderate physical activity
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of moderate physical activity [%].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of vigorous physical activity
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of vigorous physical activity [%].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: percentage of very vigorous physical activity
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the percentage of very vigorous physical activity [%].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: bedtime
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the bedtime [hh:mm].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: wake-up time
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the wake-up time [hh:mm].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: mean time in bed
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the mean time in bed [minutes].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: total mean sleep time
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the total mean sleep time [minutes].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: sleep efficiency
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the sleep efficiency [%].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: wake after sleep onset
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the wake after sleep onset [minutes].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: average of awakening
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the average of awakening [awakes].
Biorhythm characteristics of FXS patients compared to neurotypical subjects using actigraphy: hours spent awake at night
Time frame: From Day 1 to Day 28 (± 3 days)
Sleep-wake rhythms will be assessed using a wearable actigraph which will register the hours spent awake at night [minutes].
Quality of life of the FXS patients compared to neurotypical subjects using the Paediatric Quality of Life Inventory (PedsQL)
Time frame: ≤ 1 month prior to Day 1
Health-related quality of life (HRQoL) is a multidimensional concept involving physical, psychological, social, and cognitive aspects of life. Individuals with Fragile X syndrome (FXS) experience a life-long disorder that impacts the HRQoL of the affected individual and their family. HRQoL has been correlated with established measures of functioning in FXS using the: i) Cognitive Functioning Scale [0-100], ii) Quality of Life Scale, which is composite of the following items: Physical health and activities [0-32], Emotional state [0-20], Social activities [range 0-20], School activities [0-20]; and iii) Family impact scale, which is composite of the following items: Physical health and activities [0-24], Emotional state [0-20], Social activities [0-16], Cognitive function [0-20], Communication [0-12], Preoccupation [0-20], Daily activities [0-12] and Family relationships [0-20].
Quality of sleep of the FXS patients compared to neurotypical subjects using Pittsburgh sleep quality index (PSQI)
Time frame: Day 1 and Day 28 (± 3 days)
The Pittsburgh sleep quality index (PSQI) consists in a self-report questionnaire that assesses sleep quality and quantity. The 19-item self-report questionnaire yields 7 component scores: i) subjective sleep quality [0-3], ii) sleep latency [0-3], ii) duration of the sleep [0-3], iii) habitual sleep efficiency [0-3], iv) sleep disturbances [0-3], v) use of sleeping medication [0-3], and vi) daytime dysfunction [0-3]. There are five additional questions that are completed by a bed partner if there is one.
FMRP protein in peripheral blood of FXS patients in peripheral blood compared to neurotypical subjects
Time frame: ≤ 1 month prior to Day 1
Venous blood samples will be obtained by extraction of peripheral blood from participants in a EDTA tube. The levels of FMRP in the FMR1 gene will be reported as a relative value of the mean levels calculated for control [range 0-1].
miRNA profile of FXS patients in plasma compared to neurotypical subjects
Time frame: Day 1 and Day 28 (± 3 days)
Venous blood samples will be obtained by extraction of peripheral blood from participants. For the determination of the miRNomic profile, 200 μL of human plasma will be processed using Plasma/Serum miRNeasy Serum/Plasma kit to extract RNA enriched in small RNAs.

Results and safety

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 4 May 2025.
Background: PubMed 35322102Sotoudeh Anvari M, Vasei H, Najmabadi H, Badv RS, Golipour A, Mohammadi-Yeganeh S, Salehi S, Mohamadi M, Goodarzynejad H, Mowla SJ. Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing. Sci Rep. 2022 Mar 23;12(1):5011. doi: 10.1038/s41598-022-08916-4.
Background: PubMed 36313066Couto RR, Kubaski F, Siebert M, Felix TM, Brusius-Facchin AC, Leistner-Segal S. Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study. Neurol Genet. 2022 Oct 26;8(6):e200024. doi: 10.1212/NXG.0000000000200024. eCollection 2022 Dec.
Background: PubMed 26663181Lin SL. microRNAs and Fragile X Syndrome. Adv Exp Med Biol. 2015;888:107-21. doi: 10.1007/978-3-319-22671-2_7.
Background: PubMed 23366795Daly I, Pichiorri F, Faller J, Kaiser V, Kreilinger A, Scherer R, Muller-Putz G. What does clean EEG look like? Annu Int Conf IEEE Eng Med Biol Soc. 2012;2012:3963-6. doi: 10.1109/EMBC.2012.6346834.
Background: PubMed 12705812Castren M, Paakkonen A, Tarkka IM, Ryynanen M, Partanen J. Augmentation of auditory N1 in children with fragile X syndrome. Brain Topogr. 2003 Spring;15(3):165-71. doi: 10.1023/a:1022606200636.
Background: PubMed 35075104Kenny A, Wright D, Stanfield AC. EEG as a translational biomarker and outcome measure in fragile X syndrome. Transl Psychiatry. 2022 Jan 24;12(1):34. doi: 10.1038/s41398-022-01796-2.
Background: PubMed 19383661Varni JW, Limbers CA. The PedsQL 4.0 Generic Core Scales Young Adult Version: feasibility, reliability and validity in a university student population. J Health Psychol. 2009 May;14(4):611-22. doi: 10.1177/1359105309103580.
Background: PubMed 32746626Aman MG, Norris M, Kaat AJ, Andrews H, Choo TH, Chen C, Wheeler A, Bann C, Erickson C. Factor Structure of the Aberrant Behavior Checklist in Individuals with Fragile X Syndrome: Clarifications and Future Guidance. J Child Adolesc Psychopharmacol. 2020 Oct;30(8):512-521. doi: 10.1089/cap.2019.0177. Epub 2020 Aug 3.
Background: PubMed 9786440Prosser H, Moss S, Costello H, Simpson N, Patel P, Rowe S. Reliability and validity of the Mini PAS-ADD for assessing psychiatric disorders in adults with intellectual disability. J Intellect Disabil Res. 1998 Aug;42 ( Pt 4):264-72. doi: 10.1046/j.1365-2788.1998.00146.x.
Background: PubMed 32094241Shields RH, Kaat AJ, McKenzie FJ, Drayton A, Sansone SM, Coleman J, Michalak C, Riley K, Berry-Kravis E, Gershon RC, Widaman KF, Hessl D. Validation of the NIH Toolbox Cognitive Battery in intellectual disability. Neurology. 2020 Mar 24;94(12):e1229-e1240. doi: 10.1212/WNL.0000000000009131. Epub 2020 Feb 24.
Background: PubMed 2748771Buysse DJ, Reynolds CF 3rd, Monk TH, Berman SR, Kupfer DJ. The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research. Psychiatry Res. 1989 May;28(2):193-213. doi: 10.1016/0165-1781(89)90047-4.
Background: PubMed 19564050Tottenham N, Tanaka JW, Leon AC, McCarry T, Nurse M, Hare TA, Marcus DJ, Westerlund A, Casey BJ, Nelson C. The NimStim set of facial expressions: judgments from untrained research participants. Psychiatry Res. 2009 Aug 15;168(3):242-9. doi: 10.1016/j.psychres.2008.05.006. Epub 2009 Jun 28.
Individual participant dataSharing planned: No

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Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Rafael De la Torre Fornell, Pharm, PhD principal investigator

Hospital del Mar Research Institute (IMIM)

Ana Roche Martínez, MD, PhD principal investigator

Consorci Corporació Sanitària Parc Taulí. Institut d'Investigació i Innovació Parc Taulí (I3PT)

2 sites in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

An observational study of Fragile X Syndrome (FXS) and Neurotypical Adults, run by Connecta Therapeutics, S.L. at 2 sites in Spain.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 4 May 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 2 sites in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Cognitive profile of FXS patients compared to neurotypical subjects using the NIH-TCB-ID Toolbox (time frame: Day 1 and Day 28 (± 3 days)). The study lists 32 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT06957054, which also lists 65 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 May 2025.