Clinical trials: Disabilities, Intellectual
Prader-Willi Syndrome
Long-term Interventional Follow-up Study of Children With Prader-Willi Syndrome Included in the OTBB3 Clinical Trial
This study is a prospective, multicentre, interventional cohort study in children with Prader-Willi Syndrome (PWS) over 4 years (no treatment administered). The duration of the preceding OTTB3 study is 26 weeks.
- Trial name
- OTBB3-FU (NCT05032326)
- Testing
- Follow-up study of the treated cohort, Follow-up study of the untreated cohort
- Where
- 12 sites in France
- Volunteers
- 80 people
- Sponsor
- University Hospital, Toulouse
Inherited Metabolic Diseases, Lysosomal Storage Disorders
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease.
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism
- Trial name
- UCBT-002 (NCT00654433)
- Testing
- ALD-101
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- Aldagen
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
Down's Syndrome, Fine Motor Skills
Effect of Virtual Video Reality Gaming on Fine Motor Skills in Children With Down's Syndrome
Down's syndrome is genetic disorder caused by trisomy 21. Children with Down's syndrome are characterized by awkward movements, gait, increased flexibility of joints, timing of mastering of basic skills, under development of fine…
- Trial name
- NCT05392322
- Testing
- Self-help skills, Virtual video reality gaming
- Where
- Pakistan
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Fragile X Syndrome
An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome
Study 22001, "A Double-Blind, Placebo-Controlled, Flexible-Dose Evaluation of the Efficacy, Safety, and Tolerability of STX209 in the Treatment of Irritability in Subjects with Fragile X Syndrome" currently is evaluating the…
- Trial name
- NCT01013480
- Testing
- Arbaclofen
- Where
- 9 sites in United States
- Volunteers
- 45 people
- Sponsor
- Seaside Therapeutics, Inc.
Fragile X Syndrome
Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)
The purpose of this study is to generate long-term safety, tolerability and efficacy data for AFQ056 in eligible adolescent patients with FXS who have participated in the CAFQ056B2214 study, the PK study CAFQ056B2131, or another…
- Trial name
- NCT01433354
- Testing
- AFQ056
- Where
- 28 sites in United States, Australia and 11 more
- Volunteers
- 119 people
- Sponsor
- Novartis Pharmaceuticals
Neurodevelopmental Disorders, Developmental Disabilities
Family Networks (FaNs) for Children With Developmental Disorders and Delays
Over 6% of children in Pakistan suffer from a developmental disorder (intellectual disability or Autistic spectrum disorder) and most receive no intervention.In an earlier proof of concept study, the investigators integrated…
- Trial name
- FaNs (NCT02792894)
- Testing
- Family networks program
- Where
- Pakistan
- Volunteers
- 540 people
- Sponsor
- Human Development Research Foundation, Pakistan
Rett Syndrome
Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin
The aim of this study is to evaluate the safety and tolerability of triheptanoin in participants with Rett syndrome using laboratory values, electrocardiogram, rate of adverse events (AE), and physical exam.This study also seeks…
- Trial name
- NCT02696044
- Testing
- triheptanoin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Center for Rare Neurological Diseases, Norcross, GA
Neurodevelopmental Disorders, Intellectual Developmental Disorder
High Depth Exome Sequencing on DNA From a Salivary Sample by Mouth Smear.
Despite technological advances, a genetic etiology has been identified in only about 50% to 60% of patients with Neurodevelopmental disorders (NDDs), with a higher diagnostic yield in the syndromic NDD and IDD subgroups.
- Trial name
- SEPASA (NCT07492199)
- Testing
- genetic
- Volunteers
- 50 people
- Sponsor
- Centre Hospitalier Universitaire de Besancon
Rett Syndrome, RTT
The Diagnostic Experience of Male Rett Syndrome
The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome.
- Trial name
- NCT06346106
- Testing
- Male Rett
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Children's Hospital Colorado
Prader-Willi Syndrome
A Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Participants With Prader-Willi Syndrome
The objective of this study is to assess the long-term safety and tolerability of Cannabidiol Oral Solution (CBD) in participants with Prader-Willi Syndrome.
- Trial name
- NCT03458416
- Testing
- Cannabidiol Oral Solution
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Radius Pharmaceuticals, Inc.
MECP2 Duplication Syndrome
A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)
Methyl-CpG binding protein 2 (MECP2) is a dosage-sensitive, X-linked gene critical for central nervous system development and functional maintenance, which gain-of-function causes MECP2 duplication syndrome (MDS).
- Trial name
- HERO (NCT06615206)
- Testing
- HG204
- Where
- China
- Volunteers
- 6 people
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
Asthma in Children, Intellectual Disabilities (F70-F79)
Using a Smart Inhaler to Support Asthma Management in Adolescents With Intellectual and Developmental Disabilities
Correct use of daily medications containing inhaled corticosteroids is key for asthma control, yet children with intellectual and developmental disabilities (IDD) face additional barriers to proper inhaler use.
- Conditions
- Asthma in Children, Intellectual Disabilities (F70-F79), Developmental Disability, Autism Spectrum Disorder (ASD)
- Trial name
- IDD (NCT06783101)
- Testing
- Use of smart inhaler to enhance asthma inhaler proficiency
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Children's Hospital Los Angeles
Williams Syndrome, Child
Clemastine Fumarate in the Treatment of Neurodevelopmental Delays in Williams Syndrome
This study focuses on therapeutic targets for cognitive, motor, and social impairments in Williams syndrome by reversing brain myelin defects caused by GTF2I.
- Conditions
- Williams Syndrome, Child, Neurodevelopmental Delay
- Trial name
- NCT06315699
- Testing
- Clemastine Fumarate Tablets, corn starch tablets
- Where
- China
- Volunteers
- 28 people
- Sponsor
- Qilu Hospital of Shandong University
Tuberous Sclerosis, Autism Disorder
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
The purpose of this study is to characterize the developmental phenotype of ASD and ID and to identify biomarkers using advanced MRI methodology and electrophysiological biomarkers of synaptic function and connectivity predictive…
- Conditions
- Tuberous Sclerosis, Autism Disorder, Intellectual Disability
- Trial name
- NCT02461459
- Where
- 6 sites in United States
- Volunteers
- 205 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Mucopolysaccharidosis II
Mucopolysaccharidosis Type II Natural History
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is caused by a deficiency of iduronate-2-sulfatase (IDS) leading to an accumulation of glycosaminoglycans (GAGs) in tissues of MPS II patients, resulting in…
- Trial name
- NCT03529786
- Where
- 3 sites in United States, Brazil and 1 more
- Volunteers
- 36 people
- Sponsor
- REGENXBIO Inc.
Adrenoleukodystrophy
Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the clinical efficacy of combination glyceryl trierucate and glyceryl trioleate (Lorenzo's Oil) therapy in boys with X-linked adrenoleukodystrophy. II.
- Trial name
- NCT00004418
- Testing
- glyceryl trierucate/glyceryl trioleate
- Where
- 2 sites in United States
- Volunteers
- 126 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Intellectual Disability, Epilepsy
MEHMO Natural History and Biomarkers
This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have…
- Conditions
- Intellectual Disability, Epilepsy, Hypogonadisms, Microcephaly
- Trial name
- NCT06019182
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Severe Intellectual Disability
Gross Motor Skills Predict Adaptive Behavior in Institutionalized Children With Severe Intellectual Disability: A Cross-Sectional Study
This study examines whether gross motor skills are linked to everyday functioning (adaptive behavior) in children with severe intellectual disability (ID) living in social welfare institutions.
- Trial name
- TGMD-ADQ (NCT07358143)
- Testing
- Test of Gross Motor Development-Second Edition (TGMD-2) Assessment, Adaptive Behavior Questionnaire for Children (ADQ) Assessment
- Where
- China
- Volunteers
- 227 people
- Sponsor
- Xili Wen