Clinical trials: Fragile X Syndrome
Fragile-X Syndrome
EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
This prospective observational study (registry) on Fragile X syndrome (FXS) is designed to evaluate characteristics, management and patient and caregiver-related outcomes the quality of life of Families and patients with FXS and…
- Trial name
- EXPLAIN (NCT01711606)
- Where
- Germany
- Volunteers
- 75 people
- Sponsor
- Novartis Pharmaceuticals
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Fragile X Syndrome
Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome
There will be four study periods: Screening (up to 14 days in length), the Treatment Period (8 weeks), the Withdrawal Period (22 days), and Follow-up Period (up to 31 days).
- Trial name
- Harbor-C (NCT01325220)
- Testing
- arbaclofen
- Where
- 28 sites in United States
- Volunteers
- 172 people
- Sponsor
- Seaside Therapeutics, Inc.
Fragile X Syndrome
Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)
This study is a multicenter, double-blind, randomized, placebo-controlled study to assess the safety and tolerability of 3 doses of MRM-3379 in male participants with Fragile X Syndrome ages 16 to 45 (inclusive).
- Trial name
- NCT07209462
- Testing
- Low dose of MRM-3379, Middle Dose of MRM-3379, High dose of MRM-3379
- Where
- 18 sites in United States, Spain
- Volunteers
- 60 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Angelman Syndrome, Fragile X Syndrome
Single Dose Pharmacokinetic (PK) Study
The trial is a Phase 1 Single Dose PK Study in Adolescent Subjects with Fragile X syndrome (FXS) or Angelman syndrome (AS). The primary objective of the study is to evaluate the pharmacokinetics (PK) of OV101 following a single 5…
- Trial name
- NCT03109756
- Testing
- OV101
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Ovid Therapeutics Inc.
Fragile X Syndrome, Intellectual Disability
Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
The purpose of the study is to evaluate a 2-3 day treatment probe targeted to improving social gaze behavior in children with fragile X syndrome (FXS).
- Trial name
- NCT02616796
- Testing
- Social gaze training
- Where
- United States
- Volunteers
- 71 people
- Sponsor
- Stanford University
Fragile X Syndrome
Trial of Minocycline to Treat Children With Fragile X Syndrome
This is a single center study at the UC Davis MIND Institute in patients age 3.5-16 years of age with fragile X syndrome (FXS), funded by a National Fragile X Foundation Grant.
- Trial name
- NCT01053156
- Testing
- minocycline hydrochloride
- Where
- United States
- Volunteers
- 66 people
- Sponsor
- University of California, Davis
Fragile X Syndrome, Autism Spectrum Disorders
Acamprosate in Youth With Fragile X Syndrome
Fragile X syndrome (FXS) is the most common inherited form of developmental disability. FXS is inherited from the carrier parent, most often the mothers.
- Trial name
- NCT01300923
- Testing
- Acamprosate
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Indiana University
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC
Non Invasive Prenatal Diagnosis
NIPD on CFTC for Triplet Repeat Diseases
The purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the…
- Trial name
- DIACCIMEX (NCT03087526)
- Testing
- Non invasive prenatal diagnosis
- Where
- 8 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Fragile X Syndrome
An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome
This is a 4-year, open-label extension (OLE) study for subjects completing one of two double-blind clinical trials with BPN14770, Study BPN14770-CNS-301 (in adult males) and Study BPN14770-CNS-204 (in adolescent males).
- Trial name
- NCT05367960
- Testing
- Zatolmilast/ BPN14770
- Where
- 17 sites in United States
- Volunteers
- 314 people
- Sponsor
- Tetra Discovery Partners
Developmental Disability, Intellectual Disability
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system.
- Conditions
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly
- Trial name
- NCT05295277
- Testing
- Standard of care genetic testing group
- Where
- 8 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Bionano Genomics
Down Syndrome (Trisomy 21), Fragile X Syndrome (FXS)
The Neurocognitive Bases of Trust in Intellectual Disability
This project studies the neurocognitive basis of trust adjustment in intellectual disability (ID), a source of significant vulnerability for these patients, focusing on two target populations chosen for their specific social…
- Trial name
- BNConfDI (NCT07434037)
- Testing
- Confidence adjustment assessment, clinical assessment, Cognitive assessment
- Where
- France
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Anxiety Disorders, Child Developmental Disorders, Pervasive
Examining Social, Emotional, and Cognitive Functioning in People With Fragile X and Down Syndromes
By testing physiological responses to anxiety in people with nervous system developmental disorders, this study will identify specific physiological characteristics associated with response to anxiety treatments.
- Trial name
- NCT00879515
- Where
- United States
- Volunteers
- 511 people, healthy volunteers welcome
- Sponsor
- University of California, Davis
Fragile X Syndrome
A Study of RO4917523 in Pediatric Patients With Fragile X Syndrome
This randomized, double-blind, placebo-controlled, parallel-arm study will evaluate the safety and exploratory efficacy and pharmacokinetics of RO4917523 in pediatric patients with fragile X syndrome.
- Trial name
- NCT01750957
- Testing
- RO4917523
- Where
- 20 sites in United States
- Volunteers
- 47 people
- Sponsor
- Hoffmann-La Roche
Intellectual Disability, Fragile X Syndrome
Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
This study is a randomized, double-blind, placebo-controlled, crossover trial of extended-release liquid methylphenidate (XRMPH) to evaluate the sensitivity of the NIH Toolbox Cognition Battery (NIHTB-CB) to changes in cognition…
- Conditions
- Intellectual Disability, Fragile X Syndrome, Down Syndrome, Attention Deficit Hyperactivity Disorder
- Trial name
- NCT05301361
- Testing
- Methylphenidate Oral Solution
- Where
- 3 sites in United States
- Volunteers
- 68 people
- Sponsor
- University of California, Davis
X Fragile Syndrome
Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome
The purpose of this study is to determine vitamin C and vitamin E in combination are effective in the treatment of cognitive and behavior disorder in children with fragile X syndrome.
- Trial name
- SXF2-8 (NCT02942498)
- Testing
- Vitamin C 10mg/Kg Vitamin E 10 mg/Kg
- Where
- Spain
- Volunteers
- 34 people
- Sponsor
- Fundación Pública Andaluza para la Investigación de Málaga en Biomedicina y Salud
Fragile X Syndrome
Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001
The subjects that meet the inclusion and exclusion criteria and consent to participate in protocol 22001 will be offered participation in 22001A which will evaluate secreted protein before and after treatment with STX209 and…
- Trial name
- NCT00823368
- Testing
- STX209
- Where
- 11 sites in United States
- Sponsor
- Seaside Therapeutics, Inc.
Autism Spectrum Disorder, Fragile X Syndrome
Speech-in-noise Perception in Autism and Fragile X
The goal of this study is to identify which brain regions are active during speech-in-noise perception, as well as how those regions interact.
- Trial name
- NCT06088589
- Testing
- Mismatch negativity
- Where
- United States
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Fragile X Syndrome, Fragile X Mental Retardation Syndrome
A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 35 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three…
- Conditions
- Fragile X Syndrome, Fragile X Mental Retardation Syndrome, Mental Retardation, X-Linked, Genetic Diseases, X-Linked
- Trial name
- NCT03862950
- Testing
- Metformin
- Where
- 2 sites in Canada
- Volunteers
- 125 people
- Sponsor
- University of Alberta