Clinical trials: Disabilities, Intellectual
Menkes Disease
NORTHERA (DROXIDOPA) for Dysautonomia in Pediatric Survivors of Menkes Disease
This clinical trial will evaluate the safety, tolerability, dosing, and efficacy of Northera (Droxidopa) in children with Menkes disease aged 7 to 17 years who survived the major neurodegenerative and neurocognitive effects of…
- Trial name
- NCT07398508
- Testing
- Droxidopa Oral Product
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Stephen G. Kaler
Prader-Willi Syndrome
A Study of Pitolisant in Participants With Prader-Willi Syndrome
The purpose of this study is to assess safety of pitolisant in eligible participants with Prader-Willi syndrome (PWS) who completed the End of Treatment (EOT) visit in a parent study (HBS-101-CL-002 [Open Label Extension (OLE)]…
- Trial name
- NCT07219485
- Testing
- Pitolisant
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Harmony Biosciences Management, Inc.
Hunter Syndrome
Hunter Outcome Survey (HOS)
The purpose of this study is to collect data that will increase understanding of Hunter syndrome. The data from HOS may provide guidance to healthcare professionals about disease treatment options.
- Trial name
- HOS (NCT03292887)
- Where
- United States
- Volunteers
- 1,443 people
- Sponsor
- Shire
X-linked Adrenoleukodystrophy
Registry of X-linked Adrenoleukodystrophy
This study is a observational study conducted through recruiting X-linked adrenoleukodystrophy (X-ALD) patients, to build a comprehensive evaluation and long-term follow-up platform for X-ALD patients, and to provide a…
- Trial name
- NCT05939232
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Beijing Tiantan Hospital
Down Syndrome
A Double-blind, Placebo-controlled Comparative Study and Open-label Extension Study to Confirm the Efficacy and Safety of E2020 in Subjects With Down Syndrome Having Regression Symptoms and Disabled Activities of Daily Living.
The purpose of this double-blind, placebo-controlled, comparative study and open-label extension study is to confirm the efficacy and safety of E2020 in subjects with Down syndrome having regression symptoms and disabled…
- Trial name
- NCT02094053
- Testing
- E2020-Donepezil hydrochloride
- Where
- 10 sites in Japan
- Volunteers
- 36 people
- Sponsor
- Eisai Co., Ltd.
Danon Disease
Gene Therapy for Male Patients With Danon Disease (DD) Using RP-A501; AAV9.LAMP2B
This is a non-randomized open-label Phase 1 study to evaluate the safety and toxicity of gene therapy using a recombinant adeno-associated virus serotype 9 (AAV9) containing the human lysosome-associated membrane protein 2…
- Trial name
- NCT03882437
- Testing
- RP-A501
- Where
- 3 sites in United States
- Volunteers
- 7 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Rett Syndrome
Safety and Efficacy of TSHA-102 in Pediatric Females With Rett Syndrome (REVEAL Pediatric Study)
The REVEAL Pediatric Study is a multi-center, Phase 1/2 open-label, dose-escalation and dose-expansion study of TSHA-102, an investigational gene therapy, in pediatric females with Rett Syndrome.
- Trial name
- NCT06152237
- Testing
- TSHA-102
- Where
- 5 sites in United States, Canada and 1 more
- Volunteers
- 6 people
- Sponsor
- Taysha Gene Therapies, Inc.
Pregnancy, Down Syndrome
Comparison of Aneuploidy Risk Evaluations
This is a prospective, multi-center observational study designed to compare the test results of the Verinata Health Prenatal Aneuploidy Test to results of conventional prenatal screening for fetal chromosome abnormalities in…
- Conditions
- Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome
- Trial name
- CARE (NCT01663350)
- Where
- 26 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Verinata Health, Inc.
X-linked Adrenoleukodystrophy
A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy
In this pilot study, the investigators will assess the safety of two high-dose regimens of oral vitamin D supplementation and measure the effects of vitamin D supplementation on markers of oxidative stress and inflammation in the…
- Trial name
- NCT02595489
- Testing
- vitamin D3
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Stanford University
AMN, AMN Gene Mutation
Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
The course of AMN-related disabilities over time is poorly or incompletely understood due to a limited number of patients and lack of treatments.
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- CYGNET (NCT05008874)
- Testing
- Natural History Observation
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 65 people
- Sponsor
- SwanBio Therapeutics, Inc.
Down Syndrome
Effects of Dohsa Hou Exercises on Functional Mobility
Trisomy 21 is a condition where there's an extra chromosome 21, which leads to a set of clinical signs called Down syndrome. Down syndrome is one of the most complicated genetic conditions that can occur post-term and is the most…
- Trial name
- NCT06131099
- Testing
- Dohsa hou exercises, Standard treatment protocal
- Where
- Pakistan
- Volunteers
- 34 people
- Sponsor
- Riphah International University
Intellectual Disability, Mild to Moderate
Body Awareness Training for Motor Skills and Activity Performance in Children With Intellectual Disabilities
We tested whether adding a simple, structured Body Awareness Training (BAT) program to conventional physiotherapy improves motor skills, everyday activity performance, and participation (goal achievement and satisfaction) in…
- Trial name
- BAT-MAP-ID (NCT07729163)
- Testing
- Body Awareness Training and Conventional Physiotherapy, Conventional Physiotherapy
- Where
- Turkey (Türkiye)
- Volunteers
- 41 people
- Sponsor
- Cyprus International University
Obstructive Sleep Apnea, Down Syndrome (Trisomy 21)
Oro-myofunctional Characteristics and Obstructive Sleep Apnea in Infants With Down Syndrome
Obstructive Sleep Apnea (OSA) is characterised by repetitive collapse of the upper airway during sleep, inducing breathing disturbances that can result in oxygen desaturation and frequent arousals.
- Trial name
- OMF21 (NCT07195253)
- Testing
- Polysomnography (PSG) to explore OSA, Oro-myo-functional clinical evaluation, Sleep Disturbance Scale for Children
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Hospices Civils de Lyon
Fragile X Syndrome, Genetic Diseases
Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
The purpose of the study is to test the efficacy of a 20 week multi-modal treatment comprised of lovastatin or placebo, and the Parent-implemented Language Intervention (PILI) in children with fragile X syndrome (FXS).
- Trial name
- NCT02642653
- Testing
- Lovastatin
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, Davis
Mental Retardation
Correlation BIS Scores Mentally Retarded Patients
The BIS monitor is a tool which assists anesthesiologists in monitoring the depth of anesthesia or level of anesthesia. The study doctors would like to see if it is useful tool for patients who are mentally challenged and require…
- Trial name
- NCT00468338
- Testing
- BIS monitor
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- Rutgers, The State University of New Jersey
Vascular Stiffness, Cardiorespiratory Fitness
Comparison of Home- vs. Gym-based Exercise Delivery Modes
Home-based exercise interventions were the only alternatives to attenuate physical deconditioning and ameliorate traditional and emergent cardiovascular risk factors progression during the COVID-19 outbreak.
- Trial name
- UPSIDE DOWNS (NCT05701943)
- Testing
- Home-Based, Gym-Based
- Where
- Portugal
- Volunteers
- 17 people
- Sponsor
- Egas Moniz - Cooperativa de Ensino Superior, CRL
Intellectual Disability
Targeted Next Generation Sequencing and Intellectual Disability
The purpose is to determine the benefit of next generation sequencing (NGS) targeted on genes involved in intellectual disability for etiologic diagnosis of intellectual disabilities.
- Trial name
- NGS-DI (NCT02889068)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 40 people
- Sponsor
- Central Hospital, Nancy, France
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
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
Down Syndrome
Gait in Children With Down Syndrome While Wearing Orthoses
On average, Down syndrome (DS) occurs once in every 700 live births and results in life-long disability and increased risk for comorbidities.1 Individuals with DS are also susceptible to secondary physical impairments and…
- Trial name
- NCT01598350
- Testing
- Supramalleolar Orthoses (Cascade)
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Puget Sound
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