Clinical trials: Intellectual Disability
Fragile X Syndrome
A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome
A Randomized, Double-blind, Placebo-controlled, Parallel Group Study of BPN14770 in Male Adults (Aged 18 to 45) with Fragile X Syndrome
- Trial name
- NCT05358886
- Testing
- BPN14770/ zatolmilast
- Where
- 17 sites in United States
- Volunteers
- 171 people
- Sponsor
- Tetra Discovery Partners
Mucopolysaccharidosis II
Long-term Follow-Up for RGX-121
RGX-121-5101 is an observational long-term follow-up study to the RGX-121-101 or RGX-121-1102 studies where participants received RGX-121, a gene therapy intended to deliver a functional copy of the iduronate-2-sulfatase gene…
- Trial name
- NCT04597385
- Testing
- Long-term Follow-Up
- Where
- 4 sites in United States, Brazil
- Volunteers
- 27 people
- Sponsor
- REGENXBIO Inc.
Down Syndrome, Cognitive Dysfunction
Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 6 To 10
The purpose of this study is to determine the efficacy and safety of donepezil hydrochloride (Aricept) in the treatment of cognitive dysfunction shown by children with Down syndrome, aged 6 to 10 years.
- Trial name
- NCT00754013
- Testing
- Aricept (Donepezil hydrochloride)
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Eisai Inc.
Menkes Disease
Copper Histidinate Treatment for Menkes Disease
This expanded access protocol provides subcutaneous copper histidinate for Menkes disease patients under 6 years of age.
- Trial name
- NCT04074512
- Testing
- copper histidinate
- Where
- 20 sites in United States
- Sponsor
- Sentynl Therapeutics, Inc.
Fragile X Syndrome
Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX)
This trial will evaluate the efficacy and safety of ZYN002, a clear cannabidiol gel that can be applied to the skin (called transdermal application) twice a day for the treatment of behavioral symptoms of Fragile X Syndrome…
- Trial name
- CONNECT-FX (NCT03614663)
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 21 sites in United States, Australia and 1 more
- Volunteers
- 212 people
- Sponsor
- Zynerba Pharmaceuticals, Inc.
Down Syndrome, Edwards Syndrome
Non-Invasive Screening for Fetal Aneuploidy
The purpose of this study is to detect whole chromosome abnormalities in maternal blood.
- Trial name
- NCT02317965
- Testing
- Maternal Blood Draw
- Where
- 10 sites in United States
- Volunteers
- 340 people
- Sponsor
- Progenity, Inc.
Oral Health, Intellectual Disability
Supervised Brushing Programme for Intellectual Disabled Students
Intellectual disabled persons faced more dental problems. According to a medical review paper of international and local studies, this group has poorer dental hygiene, more severe gum disease and more untreated caries.
- Conditions
- Oral Health, Intellectual Disability, Randomized Controlled Trial
- Trial name
- NCT03234231
- Testing
- 3-month supervised tooth brushing programme, oral health education talk
- Volunteers
- 602 people
- Sponsor
- MD Equation
Adrenomyeloneuropathy, Adrenoleukodystrophy
MD1003-AMN MD1003 in Adrenomyeloneuropathy
The primary objective of the trial is to demonstrate the superiority of biotin at 300 mg/day over placebo in the clinical improvement (walking tests) of patients with adrenomyeloneuropathy
- Conditions
- Adrenomyeloneuropathy, Adrenoleukodystrophy, AMN
- Trial name
- NCT02961803
- Testing
- MD1003 100 mg capsule
- Where
- 4 sites in France, Germany and 1 more
- Volunteers
- 67 people
- Sponsor
- MedDay Pharmaceuticals SA
Prader-Willi Syndrome
A 2-Part Study to Assess Efficacy, Safety and Tolerability of BMB-101 for the Treatment of Patients With Prader-Willi Syndrome.
The goal of this clinical trial is to evaluate the safety and effects of a new drug called BMB-101 in people with Prader-Willi Syndrome (PWS).
- Trial name
- NCT07266324
- Testing
- BMB-101
- Where
- 2 sites in Australia
- Volunteers
- 16 people
- Sponsor
- Bright Minds Biosciences Pty Ltd
Autism Spectrum Disorder, Fra(X) Syndrome
Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X Syndrome
The purpose of this study is to accumulate and quantitatively analyze data on the microbiome, serotonin signaling and genetics, and inflammatory cytokines from patients with Autism Spectrum Disorder and Fragile X Syndrome.
- Trial name
- NCT04869930
- Testing
- specimen collection
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Nova Mentis Life Science Corp
Down Syndrome, Amyloid Beta-protein
Phase II Study of Florbetaben (BAY94-9172) PET Imaging for Detection/Exclusion of Cerebral β-amyloid.
To determine the sensitivity of the visual assessment of BAY94-9172 PET images in detecting cerebral β-amyloid in individuals with Down Syndrome (DS) and specificity in individuals without DS.
- Trial name
- NCT00928304
- Testing
- Florbetaben (BAY94-9172)
- Where
- 2 sites in United States
- Volunteers
- 109 people, healthy volunteers welcome
- Sponsor
- Lantheus Biosciences Ltd.
Hunter Syndrome
Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®
This study is being conducted to identify pediatric patients with Hunter syndrome who have neurodevelopmental disease characteristics, who are currently receiving treatment with Elaprase, and who may be suitable to participate in…
- Trial name
- NCT00937794
- Testing
- Neurobehavioral testing, Visual and auditory assessments
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 33 people
- Sponsor
- Shire
Prader-Willi Syndrome
A Study to Assess RAD011 (Cannabidiol Oral Solution) for the Treatment of Participants With Prader-Willi Syndrome
This was a study investigating RAD011 in participants diagnosed with Prader-Willi Syndrome (PWS). The primary objective of the Phase 2 part of this study was to assess the safety and tolerability of multiple dose levels of RAD011…
- Trial name
- NCT05098509
- Testing
- RAD011
- Where
- 8 sites in United States
- Volunteers
- 4 people
- Sponsor
- Radius Pharmaceuticals, Inc.
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
Danon Disease
Danon Disease Natural History Study
The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age).
- Trial name
- NCT06214507
- Testing
- No intervention
- Where
- 16 sites in United States, Australia and 5 more
- Volunteers
- 60 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Mental Retardation, Developmental Delay
Biomarker for Sanfilippo Type A-B-C-D Disease (BioSanfilippo)
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of Sanfilippo Disease Type A-B-C-D from blood (plasma)
- Trial name
- BioSanfilippo (NCT02298686)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Prader-Willi Syndrome
A Pharmacokinetic and Safety Study of CSTI-500 in Subjects With Prader-Willi Syndrome
The purpose of this Phase 1 study is to evaluate the pharmacokinetics (PK) and safety of a single dose of CSTI-500 10 mg in subjects with Prader-Willi syndrome (PWS) between 13 and 50 years of age with a genetically confirmed…
- Trial name
- NCT05504395
- Testing
- CSTI-500
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- ConSynance Therapeutics
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.
Down Syndrome
A Study of RG1662 in Individuals With Down Syndrome
This multi-center, randomized double-blind, placebo-controlled study will assess the safety and tolerability of RG1662 in individuals with Down Syndrome.
- Trial name
- NCT01436955
- Testing
- RG1662
- Where
- 9 sites in United States, United Kingdom
- Volunteers
- 35 people
- Sponsor
- Hoffmann-La Roche
Trisomy 21
Paternal Age and Fetal Aneuploidy
Trisomy 21, commonly known as down syndrome, is the most common chromosomal abnormality in humans. Advanced maternal age (AMA) is a well-recognized risk factor for trisomy 21, with the risk increasing significantly beyond the age…
- Trial name
- NCT05981521
- Testing
- Optimo prenatal screening test
- Where
- Canada
- Volunteers
- 7,141 people
- Sponsor
- Clinique Ovo