Fragile X Syndrome (FXS)Phase 2FXS-CTH120-01NCT07654114
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
A Phase 2 study testing CTH120 in people with Fragile X Syndrome (FXS) and Fragile X Syndrome, run by Connecta Therapeutics, S.L. at 2 sites in Spain.
Trial summary
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome. Read more about this study
- Who is it for?
- Ages 18 to 45 years, men only
- Conditions the study is for
- Fragile X Syndrome (FXS), Fragile X Syndrome
- What is being tested?
- CTH120
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 30 participants
- Where
- 2 sitesSpain
- Study dates
- 21 May 2026to May 2027
- Phase
- Phase 2
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 45 years
- Men only
- No healthy volunteers
- Adult
Who may be able to join
- Adult male participants.
- Aged ≥ 18 and ≤ 45 years.
- Weight ≥ 50 kg and ≤ 100 kg.
- Body mass index (BMI) ≥ 18.5 and ≤ 32.
- Clinical and molecular diagnosis of Fragile X syndrome (> 200 CGG repeats in the promoter region of the FMR1 gene).
- Participants must have a parent, or other reliable caregiver, who agrees to accompany the participant to all study visits, provide information about the participant as required by the protocol, and ensure compliance with study tests.
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- 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 study.
- Participant assenting and/or willing to participate.
- Signed informed consent by legal representative prior to any study-mandated procedure.
- Participant with a CGI-S score ≥ 3 evaluated by a clinician with experience on Fragile X syndrome, independently mobile and having sufficient vision and hearing to participate in study evaluations. They must be able to be understood most of the time and must not depend upon other forms of communication, signs, symbol boards or devices as their primary form of communication.
- Participants are expected to complete all procedures scheduled during the study visits.
- VCI scaled score >4 on the WISC-V, based on mental age.
Who cannot join
- Personal history of infantile spasms/convulsions/epilepsy, severe head trauma or CNS infections (e.g. meningitis), except for infantile febrile seizures.
- Participants with a current diagnosis of severe (Level 3) 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, anxiety disorders and conduct disorders are allowed if they are considered to not interfere with study conduct and are stable during the 8 weeks prior to screening. Related allowed treatments must be on stable dosing for the last 3 months.
- Substance use disorder according to the DSM-5 criteria.
- Epileptiform abnormalities on EEG (excluding isolated sharp waves and beyond those expected for age).
- Any life-threatening medical 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, the conduct of the study and related procedures and/or might bias the study results interpretation or could jeopardize the participant's safety.
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- Any clinically significant findings on physical examination including clinically significant vital sign abnormalities, from the perspective of the investigator.
- Any clinically significant laboratory or ECG abnormalities, from the perspective of the investigator, at Screening and/or prior to the initiation of the study medication.
- Known hypersensitivity or intolerance to any component of the investigational medicinal product or its excipients.
- Neuroleptic or antidepressant (SSRI) drugs within the 8 weeks prior to screening, except for sertraline at maximum 100 mg/day, and with no changes in the 8 weeks prior the initiation of the study.
- More than 3 psychotropic medications simultaneously in the 8 weeks prior to Screening and also during the study.
- Any new prescription or over the counter drug (except occasional use of paracetamol) in the last 2 weeks before Day 1.
- Participation in a clinical study with investigational treatments in the last 8 weeks prior to screening.
- Auditory or visual impairments that cannot be corrected.
- Positive EtG/EtS test in urine.
- Positive drug test in urine.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Spain2 sites, 2 recruiting
- Recruiting
Hospital del Mar Medical Research Institute
Barcelona, Barcelona, 08003
Rafael De la Torre, Pharm, PhD, (+34) 93 3160484, rtorre2@researchmar.net
Ana María Aldea, MD, PhD, (+34) 93 3160439, aaldea@researchmar.net
- Recruiting
Consorci Corporació Sanitaria Parc Taulí. Institut Investigació i Innovació Parc Taulí (I3PT)
Sabadell, Barcelona, 08208
Ana Roche Martínez, MD, PhD, (+34) 93 723 10 10, aroche@tauli.cat
About this study
Official title: Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
Read the detailed description
A total of 30 randomized adult participants with Fragile X syndrome will participate in the clinical trial (randomization ratio 1:1 treated vs placebo arms). The expected distribution between sites will be 1:1.
This trial will consist of a Screening period of up to 28 days prior to treatment period. A final follow-up period for safety of 14 days (± 2 days) is planned after the end of treatment. The duration of the study will be approximately 3 months for each participant.
- Conditions
- Fragile X Syndrome (FXS), Fragile X Syndrome
- Being tested
- CTH120, CTH120 placebo hard capsules
- Keywords
- Fragile X Syndrome, FXS, Fragile X, Central Nervous System Diseases, Intellectual Disability, Neurobehavioral Manifestations, Genetic Diseases, X linked, Congenital Abnormalities, Orphan Diseases, Rare Diseases, Neurodevelopmental Disorders
- Medical subject headings
- Fragile X Syndrome, Central Nervous System Diseases, Intellectual Disability, Neurobehavioral Manifestations, Genetic Diseases, X-Linked, Congenital Abnormalities, Rare Diseases, Neurodevelopmental Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
CTH120Drug
15 participants will be randomized to receive CTH120 75 mg hard capsules. Capsules of CTH120 will be administered by the oral route to participants twice a day, one capsule in the morning and one capsule in the evening, at approximately the same times each day, after breakfast (morning dose) and after dinner (evening dose), with a glass of water. The evening dose will be taken approximately 12 h from the morning dose, and preferably before midnight. The evening dose must not be taken before at least 8 hours from the morning dose.
CTH120 placebo hard capsulesOther
15 participants will be randomized to receive CTH120 placebo hard capsules. Capsules of CTH120 matching placebo will be administered by the oral route to participants twice a day, one capsule in the morning and one capsule in the evening, at approximately the same times each day, after breakfast (morning dose) and after dinner (evening dose), with a glass of water. The evening dose will be taken approximately 12 h from the morning dose, and preferably before midnight. The evening dose must not be taken before at least 8 hours from the morning dose.
| Study group | Role | What they receive |
|---|---|---|
| CTH120 | Experimental | CTH120 75 mg hard capsules will be provided by CONNECTA Therapeutics, S.L. as hard capsules for oral administration.
CTH120 75 mg hard capsules contain 75 mg CTH120 drug substance (dose expressed as active moiety) and compendial excipients to be orally administered after breakfast and after dinner with a glass of water.
The recommended dosage of CTH120 is 75 mg orally twice daily (BID) in fed conditions after breakfast and after dinner. Receives: Drug: CTH120 |
| CTH120 placebo hard capsules | Placebo comparator | CTH120 placebo hard capsules will be provided by CONNECTA Therapeutics, S.L. as hard capsules for oral administration. CTH120 matching placebo hard capsules (that contain the same compendial excipients than and are identical in appearance to CTH120 75 mg hard capsules) will be orally administered twice daily (BID) in fed conditions after breakfast and after dinner with a glass of water. Receives: Other: CTH120 placebo hard capsules |
What is being measured
The primary outcome is the main question the study is designed to answer.
Treatment-emergent adverse events (TEAEs).
Primary Safety and Tolerability endpoint for FXS-CTH120-01. AEs will be described in terms of result, frequency, intensity, medical decision, relation with study drug, as well as treatment received and subject retirement, duration, and time elapsed. AEs will also be listed and coded using the MedDRA Dictionary for the term's codification.
Measured: From Day 1 to End-of-study: EOS will be on Day 56 (±2 days).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in blood pressure (mmHg).
Primary Safety and Tolerability endpoint for FXS-CTH120-01. Blood pressure (mmHg) will be measured in the supine position following a 5 min rest.
Measured: From Day 1 to End-of-study (EOS): on Day 56 (±2 days).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in pulse rate (bpm).
Primary Safety and Tolerability endpoint for FXS-CTH120-01. Pulse rate (bpm) will be measured in the supine position following a 5 min rest.
Measured: From Day 1 to End-of-study (EOS): on Day 56 (±2 days).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in body temperature (ºC).
Primary Safety and Tolerability endpoint for FXS-CTH120-01. Body temperature will be measured using an automated vital sign monitor device.
Measured: From Day 1 to End-of-study (EOS): on Day 56 (±2 days).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in electrocardiogram (ECG) values: heart rate (bpm).
Primary Safety and Tolerability endpoint for FXS-CTH120-01. Triplicate 12-lead ECGs will be recorded in a supine position after at least 10-minute rest. Each lead will be recorded for at least 3 beats at a speed of 25 mm/s.CGs will be recorded using a machine that automatically calculates the following parameter: heart rate (bpm).
Measured: From Day 1 to End-of-study (EOS): on Day 56 (±2 days).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in electrocardiogram (ECG) values: rhythm.
Primary Safety and Tolerability endpoint for FXS-CTH120-01. Triplicate 12-lead ECGs will be recorded in a supine position after at least 10-minute rest. Each lead will be recorded for at least 3 beats at a speed of 25 mm/s.CGs will be recorded using a machine that automatically calculates the following parameter: rhythm.
Measured: From Day 1 to End-of-study (EOS): on Day 56 (±2 days).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in electrocardiogram (ECG) values: PQ/PR interval (ms).
Primary Safety and Tolerability endpoint for FXS-CTH120-01. Triplicate 12-lead ECGs will be recorded in a supine position after at least 10-minute rest. Each lead will be recorded for at least 3 beats at a speed of 25 mm/s. ECGs will be recorded using a machine that automatically calculates the following parameter: PQ/PR interval (ms).
Measured: From Day 1 to End-of-study (EOS): on Day 56 (±2 days).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in electrocardiogram (ECG) values: QRS duration (ms).
Primary Safety and Tolerability endpoint for FXS-CTH120-01. Triplicate 12-lead ECGs will be recorded in a supine position after at least 10-minute rest. Each lead will be recorded for at least 3 beats at a speed of 25 mm/s. ECGs will be recorded using a machine that automatically calculates the following parameter: QRS duration (ms).
Measured: From Day 1 to End-of-study (EOS): on Day 56 (±2 days).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in electrocardiogram (ECG) values: QT (ms).
Primary Safety and Tolerability endpoint for FXS-CTH120-01. Triplicate 12-lead ECGs will be recorded in a supine position after at least 10-minute rest. Each lead will be recorded for at least 3 beats at a speed of 25 mm/s. ECGs will be recorded using a machine that automatically calculates the following parameter: QT (ms).
Measured: From Day 1 to End-of-study (EOS): on Day 56 (±2 days).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in electrocardiogram (ECG) values: QTcF (ms).
Primary Safety and Tolerability endpoint for FXS-CTH120-01. Triplicate 12-lead ECGs will be recorded in a supine position after at least 10-minute rest. Each lead will be recorded for at least 3 beats at a speed of 25 mm/s. ECGs will be recorded using a machine that automatically calculates the following parameter: QTcF (ms).
Measured: From Day 1 to End-of-study (EOS): on Day 56 (±2 days).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in safety laboratory parameters: haematology.
Primary Safety and Tolerability endpoint for FXS-CTH120-01. The following tests will be performed: • Haematology: haemoglobin, haematocrit, red blood cell count, mean corpuscular volume, mean corpuscular haemoglobin, white blood cell count (absolute and %), platelets.
Measured: Screening visit (From Day -28 to Day -1), on Day 15, on Day 28, on Day 42 and Day 56 (± 2 days) (End-of-study (EOS)).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in safety laboratory parameters: serum chemistry.
Primary Safety and Tolerability endpoint for FXS-CTH120-01. The following tests will be performed: • Serum chemistry: sodium, potassium, urea, creatinine, albumin, calcium, phosphate, glucose, total cholesterol, LDL, HDL, TG, ALT, AST, GGT, total bilirubin, CPK, LDH.
Measured: Screening visit (From Day -28 to Day -1), on Day 15, on Day 28, on Day 42 and Day 56 (± 2 days) (End-of-study (EOS)).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in safety laboratory parameters: coagulation.
Primary Safety and Tolerability endpoint for FXS-CTH120-01. The following tests will be performed: • Coagulation parameters: INR, aPTT, PT.
Measured: Screening visit (From Day -28 to Day -1), on Day 15, on Day 28, on Day 42 and Day 56 (± 2 days) (End-of-study (EOS)).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in safety laboratory parameters: urinalysis.
Primary Safety and Tolerability endpoint for FXS-CTH120-01. The following tests will be performed: • Urinalysis parameters: leucocytes, protein, bilirubin, urobilinogen, ketones, red blood cells, pH, nitrite, glucose (only at Screening visit).
Measured: Screening visit (from Day -28 to Day -1).
Treatment-emergent potentially clinically significant abnormalities (PSCAs) in safety laboratory parameters: viral serology and detection.
Primary Safety and Tolerability endpoint for FXS-CTH120-01. The following tests will be performed: • Viral serology and detection: Hepatitis B (HBsAg), Hepatitis C (Ac IgG VHC) and HIV antibody.
Measured: Screening visit (from day -28 to Day -1).
Secondary outcomes (33)
Observed maximum concentration (Cmax).
Secondary Pharmacokinetics endpoint for CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: Cmax (ng/mL).
Measured: On Day 15 and Day 42.
Measured concentration at the end of a dosing interval at steady state (Ctrough).
Secondary Pharmacokinetics endpoint for CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: Ctrough (ng/mL).
Measured: On Day 15, Day 28 and Day 42.
Last analytically quantifiable plasma concentration above LLOQ (Clast).
Secondary Pharmacokinetics endpoint CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: Clast (ng/mL).
Measured: On Day 15 and Day 42.
Time to reach Cmax (tmax).
Secondary Pharmacokinetics endpoint for CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: tmax (h).
Measured: On Day 15 and Day 42.
Lag-time (time delay between drug administration and first observed concentration above LOQ in plasma) (tlag).
Secondary Pharmacokinetics endpoint for CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: tlag (h).
Measured: On Day 15 and Day 42.
Time post administration of the last analytically quantifiable concentration (above LLOQ) (tlast).
Secondary Pharmacokinetics endpoint for CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: tlast (h).
Measured: On Day 15 and Day 42.
Area under the plasma concentration-time curve (AUC0-t, AUC0-∞, AUCextrap %)
Secondary Pharmacokinetics endpoint for CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: AUC0-t (h * ng/mL), AUC0-∞ (h * ng/mL), AUCextrap % (h * ng/mL).
Measured: On Day 15 and Day 42.
Elimination rate constant (λz).
Secondary Pharmacokinetics endpoint for CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: λz (1/h).
Measured: On Day 15 and Day 42.
Terminal half-life (t1/2).
Secondary Pharmacokinetics endpoint for CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: t1/2 (h).
Measured: On Day 15 and Day 42.
Apparent clearance (CL/F).
Secondary Pharmacokinetics endpoint for CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model:CL/F (mL/h * kg).
Measured: On Day 15 and Day 42.
Apparent volume of distribution during terminal phase after oral administration: (Vz/F).
Secondary Pharmacokinetics endpoint for CTH120 for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: Vz/F (mL/kg).
Measured: On Day 15 and Day 42.
Accumulation ratio calculated from Cmax after repeated dosing and Cmax after 1st dosing (RAC Cmax).
Secondary Pharmacokinetics endpoint for CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: RAC Cmax.
Measured: On Day 42.
Accumulation ratio calculated from AUC0-t after repeated dosing and AUC0-t (RAC AUC0-t).
Secondary Pharmacokinetics endpoint for CTH120 and its main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: RAC AUC0-t.
Measured: On Day 42.
Metabolic ratio of metabolite Cmax and parent drug Cmax (MR Cmax).
Secondary Pharmacokinetics endpoint for CTH120's main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: MR Cmax (n-fold).
Measured: On Day 15 and Day 42.
Metabolic ratio of metabolite AUC0-t and parent drug AUC0-t (MR AUC0-t).
Secondary Pharmacokinetics endpoint for CTH120's main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: MR AUC0-t (n-fold).
Measured: On Day 15 and Day 42.
Metabolic ratio of metabolite AUC0-∞ and parent drug AUC0-∞ (MR AUC0-∞).
Secondary Pharmacokinetics endpoint for CTH120's main metabolite for FXS-CTH120-01.
- Plasma PK parameter calculated using a non-compartmental model: MR AUC0-∞ (n-fold).
Measured: On Day 15 and Day 42.
Global functioning using the Visual Analogue Scale (VAS)
Secondary exploratory Efficacy endpoints for FXS-CTH120-01:
- The VAS consists of a 100 mm horizontal line anchored at each end with descriptors representing opposite extremes of a behavioural or functional domain (Left-end representing the lowest or most impaired level, and the right-end representing the highest or least impaired level). The VAS will be used to evaluate the clinician's perception of the participant's current condition across five specific domains relevant to Fragile X syndrome by placing a mark along the line at the position that best reflects their clinical judgment of the individual's status. This mark is then measured from the left end of the line (0 mm) to the mark (up to 100 mm) to produce a numeric score.
Measured: On Baseline visit (From Day -14 to Day -1), on Day 14, on Day 42 and on Day 56 (± 2 days) (End-of-study (EOS)).
Global severity using the Clinical Global Impression Severity Scale (CGI-S)
Secondary exploratory Efficacy endpoints for FXS-CTH120-01. CGI-S establishes the baseline illness status and rates illness severity on a 7-point scale, with anchors ranging from "1 = Normal, not at all sick" to "7 = Among the most extremely sick patients".
Measured: On Baseline visit (From Day -14 to Day -1) and on Day 14.
Global improvement using the Clinical Global Impression Improvement Scale (CGI- I)
Secondary exploratory Efficacy endpoints for FXS-CTH120-01. CGI-I rates how much the participant's illness has improved or worsened relative to the baseline state (CGI-S) on a similar 7-point scale: 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: On Day 14, on Day 42 and on Day 56 (± 2 days) (End-of-study (EOS)).
Behaviour troubles using the Aberrant Behaviour Checklist-Community in FXS (ABC-CFXS)
Secondary exploratory Efficacy endpoints for FXS-CTH120-01:
The ABC-CFXS is an adapted version of the Aberrant Behaviour Checklist - Community (ABC-C), specifically tailored for individuals with Fragile X syndrome (FXS). It includes 55 items rated on a 4-point Likert scale ranging from 0 ("not at all a problem") to 3 ("the problem is severe in degree"), assessing six behavioural domains: irritability, hyperactivity, lethargy, social avoidance, stereotypy, and inappropriate speech.
Measured: On Baseline visit (From Day -14 to Day -1), on Day 14, on Day 42 and on Day 56 (± 2 days) (End-of-study (EOS)).
Cognitive functioning using the National Institutes of Health Toolbox Cognition Battery Intellectual disability NIH-TCB-ID
Secondary exploratory Efficacy endpoints for FXS-CTH120-01:
The Fluid Cognition composite score of the NIH Toolbox cognitive battery combines the scores of five tests assessing the following cognitive domains: Cognitive flexibility, Inhibitory control and visual attention, Episodic memory, Processing speed and Working memory. Higher composite scores indicate better cognitive functioning, whereas lower scores indicate greater cognitive impairment.
Measured: On Baseline visit (From Day -14 to Day -1), on Day 14, and on Day 42.
Anxiety, Depression, and Mood Scale (ADAMS).
Exploratory Efficacy endpoints for FXS-CTH120-01:
ADAMS is a scale to assess 28 items, categorized into the following five subscales: Manic/Hyperactive Behaviour, Depressed Mood, Social Avoidance, General Anxiety and Compulsive Behaviour. Each item is evaluated on a 4-point Likert scale rating from 0 (not a problem) to 3 (severe problem). The scores for the 5 subscales will be collected in the eCRF.
Measured: On Baseline visit (From Day -14 to Day -1), on Day 14, and on Day 42.
Adaptive functioning using the Vineland Adaptive Behaviour Scale 3 (VABS-3)
Exploratory Efficacy endpoints for FXS-CTH120-01:
Vineland Adaptive Behavior Scales, Third Edition (VABS-3) is a psychometric instrument that assesses adaptive functioning through a standardized interview with the participant or their caregiver. It evaluates activities of daily living across the domains of Communication, Daily Living Skills, and Socialization. Outcomes include raw scores, V-scale scores, Growth Scale Values (GSVs), domain standard scores, and the Adaptive Behavior Composite (ABC).
The Adaptive Behavior Composite (ABC) standard score ranges from 20 to 123. Higher scores indicate better adaptive functioning, whereas lower scores indicate greater adaptative functioning impairment.
Measured: On Baseline visit (From Day -14 to Day -1), on Day 14, and on Day 42.
Paediatric Quality of Life Inventory (PedsQL) 2.0
Exploratory Efficacy endpoints for FXS-CTH120-01:
PedsQL evaluates quality of life involving physical, psychological, social, and cognitive aspects.
Quality of life using the PedsQL 2.0 Family Impact Module (parent impact for all ages). Items are rated on a 5-point scale from 0 (never a problem) to 4 (almost always a problem). Items are reversed scored and linearly transformed on a scale ranging from 0 to 100. Higher scores indicate better health-related quality of life.
Measured: On Baseline visit (From Day -14 to Day -1), on Day 14, and on Day 42.
Paediatric Quality of Life Inventory (PedsQL) 3.0
Exploratory Efficacy endpoints for FXS-CTH120-01:
PedsQL evaluates quality of life involving physical, psychological, social, and cognitive aspects.
Cognitive functioning using the PedsQL 3.0 Cognitive Functioning Scale (PARENT Reports for Young Adults (ages 18-25) and Adults (ages over 26)). Items are rated on a 5-point scale from 0 (never a problem) to 4 (almost always a problem). Items are reversed scored and linearly transformed on a scale ranging from 0 to 100. Higher scores indicate better health-related quality of life.
Measured: On Baseline visit (From Day -14 to Day -1), on Day 14, and on Day 42.
Paediatric Quality of Life Inventory (PedsQL) 4.0
Exploratory Efficacy endpoints for FXS-CTH120-01:
PedsQL evaluates quality of life involving physical, psychological, social, and cognitive aspects.
Quality of life using the PedsQL 4.0 Generic Core Scales (PARENT Reports for Young Adults (ages 18-25) and Adults (ages over 26). Items are rated on a 5-point scale from 0 (never a problem) to 4 (almost always a problem). Items are reversed scored and linearly transformed on a scale ranging from 0 to 100. Higher scores indicate better health-related quality of life.
Measured: On Baseline visit (From Day -14 to Day -1), on Day 14, and on Day 42.
Quality of sleep using the Pittsburgh Sleep Quality Index (PSQI)
Exploratory Efficacy endpoints for FXS-CTH120-01:
Pittsburgh sleep quality index (PSQI) is a self-report questionnaire that assesses sleep quality and quantity. The 19-item self-report questionnaire yields 7 component scores: subjective sleep quality, sleep latency, duration, habitual sleep efficiency, sleep disturbances, use of sleeping medication, and daytime dysfunction. There are five additional questions that are completed by a bed partner if there is one. The sum of the 7 individual scores (from 0 to 3), ranges from 0 to 21. A total score of less or equal than 5 is associated with good sleep quality. A total score of more than 5 is associated with poor sleep quality.
Measured: On Baseline visit (From Day -14 to Day -1), on Day 14, and on Day 42.
Neural functioning using Electroencephalography (EEG) (auditory oddball, resting-state and auditory steady-state response)
Exploratory Efficacy endpoints for FXS-CTH120-01:
EEG will be recorded using a mobile wireless helmet for high-precision EEG monitoring (Neuroelectrics Enobio® 20 5G, Starlab technology, Spain).
Measured: On Baseline visit (From Day -14 to Day -1), on Day 14, and on Day 42.
Social avoidance using eye-tracking
Exploratory Efficacy endpoints for FXS-CTH120-01:
An eye tracker (Tobii Technology, Sweden) will be used to record X and Y coordinates of eye position and pupil diameter while participants are exposed to stimuli consisting on coloured photographs of adult human faces.
Measured: On Baseline visit (From Day -14 to Day -1), on Day 14, and on Day 42.
Biorhythm characteristics using Actigraphy
Exploratory Efficacy endpoints for FXS-CTH120-01:
Sleep-wake rhythms will be assessed using an actigraph (GT3X-BT model) placed on the wrist of a non-dominant hand. The actigraph is a non-invasive device, useful for monitoring circadian rhythms and it records consecutive periods of 60 seconds throughout the 24 hours/day.
The minimum actigraphy recording will be at least 7 days.
Measured: Between Baseline visit (From Day -14 to Day -1) and Day 14, and between Day 28 and Day 42.
Protein levels of FMRP in peripheral blood
Exploratory Efficacy endpoints for FXS-CTH120-01:
Venous blood samples (9 mL each) will be obtained by extraction of peripheral blood from participants in a EDTA tube.
Measured: On Baseline visit (From Day -14 to Day -1) and on Day 42.
BDNF concentrations in plasma
Exploratory Efficacy endpoints for FXS-CTH120-01:
Venous blood samples (6 mL each) will be obtained by extraction from a cubital vein from participants. A single venipuncture will be used to obtain three aliquots.
Measured: On Baseline visit (From Day -14 to Day -1) and on Day 42.
miRNA profile in plasma
Exploratory Efficacy endpoints for FXS-CTH120-01:
Approximately, 200 µL of human plasma obtained from blood samples collected for BDNF measurement will be processed to extract RNA enriched in small RNAs. RNA quality and concentration will be assessed using the prior library preparation. Libraries will be sequenced at CRG using Nextseq500 sequencer. Processed reads will be mapped to miRBase database using STAR software, and count tables will be generated with FeatureCounts (Subread package). For differential expression (DE) analysis, read counts will be transformed to log2-counts-per-million (logCPM), and variance will be modelled using the voom approach in the limma package.
Measured: On Baseline visit (From Day -14 to Day -1) and on Day 42.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Jun 2026
- Study start21 May 2026
- Primary completionMay 2027 (estimated)
- Study completionMay 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (80)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
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- Phase IIa, randomized, double-blind, placebo-controlled, parallel groups, multicentre clinical trial, to assess safety, tolerability and efficacy of CTH120 75 mg BID and matching placebo in adult males with Fragile X syndrome (aged 18 to 45 years).
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Connecta Therapeutics, S.L.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Hospital del Mar Research Institute (IMIM), Corporacion Parc Tauli, Ministry of Science and Innovation, Spain, Astrum CRO, S.L.
- Responsible party
- Sponsor
- Investigators
- Rafael De la Torre, Pharm, PhD, Principal investigator, Hospital del Mar Medical Research InstituteAna María Aldea, MD, PhD, Principal investigator, Hospital del Mar Medical Research InstituteAna Roche Martínez, MD, PhD, Principal investigator, Consorci Corporació Sanitària Parc Taulí. Institut d'Investigació i Innovació Parc Taulí (I3PT)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07654114
- Sponsor's protocol ID
- CTH-CTH120-FXS-01
- Other IDs
- 2025-522972-97-00, 2025
- Acronym
- FXS-CTH120-01
- Status last verified
- Jun 2026
- First submitted
- 12 Jun 2026
- Last updated
- 17 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
EMEA, "Committee for Medicinal Products for Human Use (CHMP) Guideline on strategies to identify and mitigate risks for first-in-human and early clinical trials with investigational medicinal products," EMEA/CHMP/SWP/28367/07, 2017, Accessed: Jul. 07, 2022. [Online]. Available: www.ema.europa.eu/contact
Myrick LK, Nakamoto-Kinoshita M, Lindor NM, Kirmani S, Cheng X, Warren ST. Fragile X syndrome due to a missense mutation. Eur J Hum Genet. 2014 Oct;22(10):1185-9. doi: 10.1038/ejhg.2013.311. Epub 2014 Jan 22.
PubMed 24448548Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron AL, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, El Chehadeh S, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gerard B, Mandel JL, Faivre L, Piton A. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. Eur J Hum Genet. 2017 Apr;25(4):423-431. doi: 10.1038/ejhg.2016.204. Epub 2017 Feb 8.
PubMed 28176767Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB Jr, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ. Fragile X syndrome. Nat Rev Dis Primers. 2017 Sep 29;3:17065. doi: 10.1038/nrdp.2017.65.
PubMed 28960184Wang LW, Berry-Kravis E, Hagerman RJ. Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics. 2010 Jul;7(3):264-74. doi: 10.1016/j.nurt.2010.05.005.
PubMed 20643379Grigsby J. The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology. Clin Neuropsychol. 2016 Aug;30(6):815-33. doi: 10.1080/13854046.2016.1184652. Epub 2016 Jun 29.
PubMed 27356167Banerjee A, Ifrim MF, Valdez AN, Raj N, Bassell GJ. Aberrant RNA translation in fragile X syndrome: From FMRP mechanisms to emerging therapeutic strategies. Brain Res. 2018 Aug 15;1693(Pt A):24-36. doi: 10.1016/j.brainres.2018.04.008. Epub 2018 Apr 10.
PubMed 29653083Bakker CE, Oostra BA. Understanding fragile X syndrome: insights from animal models. Cytogenet Genome Res. 2003;100(1-4):111-23. doi: 10.1159/000072845.
PubMed 14526171Mientjes EJ, Nieuwenhuizen I, Kirkpatrick L, Zu T, Hoogeveen-Westerveld M, Severijnen L, Rife M, Willemsen R, Nelson DL, Oostra BA. The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis. 2006 Mar;21(3):549-55. doi: 10.1016/j.nbd.2005.08.019. Epub 2005 Oct 26.
PubMed 16257225Gaudissard J, Ginger M, Premoli M, Memo M, Frick A, Pietropaolo S. Behavioral abnormalities in the Fmr1-KO2 mouse model of fragile X syndrome: The relevance of early life phases. Autism Res. 2017 Oct;10(10):1584-1596. doi: 10.1002/aur.1814. Epub 2017 Jun 7.
PubMed 28590057Darnell JC, Klann E. The translation of translational control by FMRP: therapeutic targets for FXS. Nat Neurosci. 2013 Nov;16(11):1530-6. doi: 10.1038/nn.3379. Epub 2013 Apr 14.
PubMed 23584741Richter JD, Bassell GJ, Klann E. Dysregulation and restoration of translational homeostasis in fragile X syndrome. Nat Rev Neurosci. 2015 Oct;16(10):595-605. doi: 10.1038/nrn4001. Epub 2015 Sep 9.
PubMed 26350240Gholizadeh S, Halder SK, Hampson DR. Expression of fragile X mental retardation protein in neurons and glia of the developing and adult mouse brain. Brain Res. 2015 Jan 30;1596:22-30. doi: 10.1016/j.brainres.2014.11.023. Epub 2014 Nov 20.
PubMed 25446451Feng Y, Gutekunst CA, Eberhart DE, Yi H, Warren ST, Hersch SM. Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes. J Neurosci. 1997 Mar 1;17(5):1539-47. doi: 10.1523/JNEUROSCI.17-05-01539.1997.
PubMed 9030614Hanson AC, Hagerman RJ. Serotonin dysregulation in Fragile X Syndrome: implications for treatment. Intractable Rare Dis Res. 2014 Nov;3(4):110-7. doi: 10.5582/irdr.2014.01027.
PubMed 25606361