Clinical trials: Intellectual Disabilities
Down Syndrome (DS), Alzheimer's Disease (AD)
Adapting RDAD for DS
The goal of this clinical trial is to observe feasibility and initial efficacy of a remotely delivered exercise and dementia caregiving intervention in older adults with Down syndrome and their caregivers.
- Trial name
- CareFit DS/AD (NCT07425769)
- Testing
- Remote Exercise Sessions, Caregiver Education Sessions
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Kansas Medical Center
Pyruvate Dehydrogenase Complex Deficiency, Pyruvate Dehydrogenase E1 Alpha Deficiency
Natural History Study of Pyruvate Dehydrogenase Deficiency
Pyruvate dehydrogenase (PDH) deficiency is one of the most common mitochondrial disorders. Patients with this genetic condition have difficulty utilising carbohydrates to produce energy and develop a combination of problems…
- Conditions
- Pyruvate Dehydrogenase Complex Deficiency, Pyruvate Dehydrogenase E1 Alpha Deficiency, Pyruvate Dehydrogenase E1-Beta Deficiency, Pyruvate Dehydrogenase E2 Deficiency
- Trial name
- NCT05257005
- Where
- United Kingdom
- Volunteers
- 50 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Down Syndrome
Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children
Evaluation of the following in very young children with Down syndrome: the efficacy of systematic treatment with L-thyroxine at controlled doses (clinically and by ultrasensitive thyreostimulating hormone (TSH) assay), the…
- Trial name
- ACTHYF (NCT01576705)
- Testing
- thyroid hormone and folinic acid
- Where
- France
- Volunteers
- 175 people
- Sponsor
- Institut Jerome Lejeune
Down Syndrome
Effects of Task-oriented Training on Visual-motor Integration and Upper Limb Function in Children With Down Syndrome
The condition known as Down Syndrome (DS) is caused by trisomy 21, or the presence of an extra copy of chromosome 21. DS is the most common survivable autosomal aneuploidy and one of the genetically complicated problem compatible…
- Trial name
- NCT06943261
- Testing
- task oriented training, conventional therapy
- Volunteers
- 28 people
- Sponsor
- Riphah International University
Infantile Refsum's Disease, Zellweger Syndrome
Study of Bile Acids in Patients With Peroxisomal Disorders
OBJECTIVES: I. Determine the effectiveness of oral bile acid therapy with cholic acid, chenodeoxycholic acid, and ursodeoxycholic acid in patients with peroxisomal disorders involving impaired primary bile acid synthesis. II.
- Conditions
- Infantile Refsum's Disease, Zellweger Syndrome, Bifunctional Enzyme Deficiency, Adrenoleukodystrophy
- Trial name
- NCT00004442
- Testing
- chenodeoxycholic acid, cholic acid, ursodiol
- Volunteers
- 25 people
- Sponsor
- University of Cincinnati
Rett Syndrome
To Investigate the Efficacy of Treatment With Oral NA-921 (Bionetide) Versus Placebo in Females With Rett Syndrome
Primary Objective • To investigate the efficacy of treatment with oral Bionetide versus placebo in girls and women with Rett syndrome Key Secondary Objective To investigate the efficacy of treatment with oral Bionetide versus…
- Trial name
- NCT06840496
- Testing
- Bionetide
- Where
- 18 sites in United States, Australia
- Volunteers
- 210 people
- Sponsor
- Biomed Industries, Inc.
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
Cornelia de Lange Syndrome
Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome
This research project is a randomized cross-over pilot trial which aims to test the efficacy of N-acetylcysteine (NAC) for the treatment of Repetitive Behaviors (RB) and self-injurious behavior (SIB) in patients with Cornelia de…
- Trial name
- NCT04381897
- Testing
- N-acetyl cysteine
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
Down Syndrome, Patau Syndrome
Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies
The purpose of this study is to evaluate the performance of the IONA® test which is a non-invasive prenatal test (NIPT) for Down's syndrome and other chromosomal abnormalities in twin pregnancies, from a maternal blood sample.
- Conditions
- Down Syndrome, Patau Syndrome, Edward's Syndrome
- Trial name
- TWIN (NCT03200041)
- Testing
- Blood sample
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Premaitha Health
Down Syndrome
Down Syndrome Speech Intelligibility Diagnostic Treatment Study
The 'Down syndrome speech intelligibility diagnostic treatment study' is a pilot clinical intervention study assessing the efficacy of an integrative speech treatment approach for individuals with Down syndrome (DS).
- Trial name
- NCT04059354
- Testing
- Speech therapy addressing phonology and motor learning
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- University of Wisconsin, Madison
Down Syndrome
Anomalies of Nocturnal Gaz Exchanges in Patients With Down Syndrome
Recently, retrospective studies have shown that Down Syndrome children have a higher CO2 (carbone dioxide) sleep pressure than the general pediatric population. This increase does not seem to be always related to sleep apnea.
- Trial name
- NCT03903666
- Testing
- Nocturnal gaz exchanges measurement
- Where
- France
- Volunteers
- 48 people
- Sponsor
- Institut Jerome Lejeune
Pes Planus Down Syndrome Patients
Down Syndrome and Effects of Foot Muscle Exercise
Down syndrome (DS) is a common chromosomal pediatric disorder and accounts for approximately 8 % of all congenital anomalies. Children with DS experience delays in Cognitive, Physical, Speech and Language development.
- Trial name
- NCT05251935
- Testing
- Foot Muscle Exercise Protocol, Arch Support Insole and One Leg Balance Activities
- Where
- Pakistan
- Volunteers
- 47 people
- Sponsor
- Ziauddin University
Autism Spectrum Disorder
An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder
The investigators hypothesize that EPI-743 may provide clinical benefit to children with Autism Spectrum Disorder.
- Trial name
- Autism (NCT02226458)
- Testing
- EPI-743
- Sponsor
- Edison Pharmaceuticals Inc
Mucopolysaccharidosis II
To Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome Patients
The purpose of this study is to evaluate the safety and efficacy of GC1111 (recombinant human iduronate-w-sulfatase) in Hunter Syndrome (Mucopolysaccharidosis II) patients
- Trial name
- NCT01301898
- Testing
- GC1111_0.5mg/kg, GC1111_1.0mg/kg, Elaprase_0.5mg/kg
- Where
- South Korea
- Volunteers
- 31 people
- Sponsor
- Green Cross Corporation
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.
Posture, Balance
Training Balance Among People With Neurodevelopmental Disabilities
This study is a case control pilot study to investigate the impact of a short-term intervention on training anticipatory postural adjustments in a population of people with neurodevelopmental disabilities.
- Conditions
- Posture, Balance, Cerebral Palsy, Autism
- Trial name
- TAPAS (NCT04293120)
- Testing
- Training with weighted ball
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- University of Hartford
Fragile X Syndrome
Combined Treatment of Minocycline and Lovastatin to Treat Individuals With Fragile X Syndrome
The purpose of this study is to determine whether Lovastatin, Minocycline and the combination Lovastatin/Minocycline are effective in treating behavioral symptoms in Fragile X individuals.
- Trial name
- LovaMiX (NCT02680379)
- Testing
- Minocycline, then Minocycline/Lovastatin, Lovastatin, then Minocycline/Lovastatin
- Where
- Canada
- Volunteers
- 22 people
- Sponsor
- Université de Sherbrooke
Obstructive Sleep Apnea (OSA), Down Syndrome
Endotype DIrected Treatment for OSA in Down Syndrome
Down syndrome is the most common genetic cause of intellectual disability. People with Down syndrome often have obstructive sleep apnea (OSA), a condition where people have difficulties with breathing while asleep.
- Trial name
- EDIT OSA (NCT07280468)
- Testing
- ato-oxy, Oxygen
- Where
- 5 sites in United States
- Volunteers
- 200 people
- Sponsor
- University of Arizona
Intellectual Disability
Handgrip Strength, Trunk Muscle Endurance, and Functional Mobility in Adolescents With Mild Intellectual Disability
This comparative, cross-sectional observational study examined handgrip strength, trunk muscle endurance, and functional mobility in adolescents aged 12-18 years with mild intellectual disability and compared their performance…
- Trial name
- NCT06934850
- Where
- Turkey (Türkiye)
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Inonu University
Mucopolysaccharidosis II
A Study of JR-141 in Patients With Mucopolysaccharidosis II (BR21)
A Phase II open-label, randomized, parallel group, 2 sites (Brazil), designed to evaluate the safety and efficacy of 3 doses of study drug for the treatment of the MPS II.
- Trial name
- NCT03359213
- Testing
- JR-141
- Where
- 2 sites in Brazil
- Volunteers
- 18 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.