Clinical trials: Intellectual Disability
Mucopolysaccharidosis Type II, Metabolic Diseases
A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
It is a phase I open-label single-dose, dose-escalation cohort study to evaluate of the tolerance, safety, and pharmacokinetics of GNR-055 in healthy volunteers
- Trial name
- NCT04539340
- Testing
- GNR-055
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- AO GENERIUM
Autism Spectrum Disorder, Intellectual Disability
Expert Guiding Technology to Help Individuals With Developmental Challenges Build Life and Vocational Skills
Clinical trials will evaluate the efficacy of expert guiding technology to support instructors to better help individuals with developmental challenges due to ASD and ID learn life and vocational skills.
- Trial name
- NCT04518358
- Testing
- Use of Expert Guiding Technology (GAINS) to Improve Live and Vocational Skills for Individuals with Developmental Challenges
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- John T. Nosek
Trisomy 21
Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom
The main objective of this study is to estimate the intrinsic diagnostic qualities of the digital dPCR in the screening of T21 from a multicentrique sample of patients with pregnancies at high risk of T21 (risk > 1/250).
- Trial name
- DIgiT21 (NCT02872948)
- Testing
- Diagnostic
- Where
- France
- Volunteers
- 1,260 people
- Sponsor
- University Hospital, Grenoble
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
Fragile X Syndrome
Study of Acamprosate in Fragile x Syndrome
In this research study we want to understand the effectiveness of a drug treatment, acamprosate, for interfering symptoms (i.e., inattention/hyperactivity, social impairment) associated with Fragile X Syndrome (FXS).
- Trial name
- NCT01911455
- Testing
- acamprosate
- Where
- 2 sites in United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Down Syndrome
Effect of Hippotherapy in Children With Down Syndrome
Purpose: The aim of this study was to determine the effect of hippotherapy on balance, functional mobility, and functional independence in children with Down syndrome (DS).
- Trial name
- NCT05297149
- Testing
- Hippotherapy, Home exrecises
- Where
- Turkey (Türkiye)
- Volunteers
- 34 people
- Sponsor
- Halic University
Intellectual Disability, Cerebral Palsy
Oral Health Promotion Among Preschool Children With Special Needs
Establishing good oral health-related habit is challenging among younger children, especially for preschool children with special needs, as they have physical, mental, sensory, behavioural, emotional, and chronic medical…
- Conditions
- Intellectual Disability, Cerebral Palsy, Developmental Disorders, Developmental Delay
- Trial name
- NCT03522337
- Testing
- Visual pedagogy (social stories), Conventional leaflets
- Where
- China
- Volunteers
- 306 people
- Sponsor
- The University of Hong Kong
Hypothyroidism, Trisomy 21
Use of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients
Children with levothyroxine (T21) have developmental delay and other functional gastrointestinal (GI) issues that may negatively affect L-T4 tolerability and absorption.
- Trial name
- NCT04747275
- Testing
- Liquid stable levothyroxine (L-T4) Tirosint-SOL, Oral tablet levothyroxine (L-T4)
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Children's Mercy Hospital Kansas City
Hemophilia B, Mucopolysaccharidosis I
Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX
Long-term follow-up of subjects who received SB-318, SB-913, or SB-FIX in a previous trial and completed at least 52 weeks post-infusion follow-up in their primary protocol.
- Conditions
- Hemophilia B, Mucopolysaccharidosis I, Mucopolysaccharidosis II
- Trial name
- LTFU (NCT04628871)
- Testing
- SB-318, SB-913, SB-FIX
- Where
- 5 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sangamo Therapeutics
Rett Syndrome
Biomarkers in Rett Syndrome
Rett syndrome (RTT) is an X-linked genetic disorder that causes severe neurological development disorder. In its classic form, it seems to affect almost exclusively females with an incidence of up to one in 10,000 females.
- Trial name
- BIRS (NCT06346444)
- Testing
- Diagnostic test and behavioral
- Where
- 4 sites in Ireland, Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Adrenoleukodystrophy, Metachromatic Leukodystrophy
HSCT for High Risk Inherited Inborn Errors
Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD, or Krabbe disease).
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease
- Trial name
- NCT00383448
- Testing
- Clofarabine, Total body Irradiation, Melphalan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
Prader-Willi Syndrome
A Clinical Evaluation of Non-Invasive Vagus Nerve Stimulation for Temper Outbursts in People With PWS
The goal of the VNS4PWS clinical study is to test the efficacy, safety, and acceptability of transcutaneous vagus nerve stimulation (tVNS) treatment in people with PWS.
- Trial name
- VNS4PWS (NCT06144645)
- Testing
- tVNS, intermittent stimulation, tVNS, continuous stimulation
- Where
- 18 sites in United States
- Volunteers
- 102 people
- Sponsor
- Foundation for Prader-Willi Research
Down Syndrome
Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (HCl) (Aricept) In Treating Cognitive Dysfunction Exhibited By Children With Down Syndrome
The purpose of this study is to determine whether donepezil HCl is effective and safe in improving cognitive dysfunction exhibited by children and adolescents with Down syndrome (DS).
- Trial name
- NCT00570128
- Testing
- Donepezil HCl
- Where
- 31 sites in United States
- Volunteers
- 129 people
- Sponsor
- Eisai Inc.
Intellectual Disability, Multiple Congenital Anomaly
Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and…
- Conditions
- Intellectual Disability, Multiple Congenital Anomaly, Rare Diseases
- Trial name
- NCT03424772
- Testing
- Whole genome sequencing
- Where
- 14 sites in China
- Volunteers
- 100 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Abuse Prevention
Protect Yourself: Abuse Prevention for People With Intellectual Disabilities
The purpose of this study is to help individuals and their caregivers develop a plan on how to recognize, deal with and respond to abusive situations.
- Trial name
- AP4ID (NCT03998605)
- Testing
- Abuse Prevention Program, Control Condition
- Where
- United States
- Sponsor
- Double S Instructonal Systems
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Longitudinal Studies of Brain Structure and Function in MPS Disorders
Neurobehavioral function and quality of life are compromised in many patients with mucopolysaccharidosis (MPS) disorders. The long-term goals of this research are to: 1) more accurately inform patients/parents regarding potential…
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV
- Trial name
- NCT01870375
- Where
- 4 sites in United States, Canada
- Volunteers
- 100 people
- Sponsor
- University of Minnesota
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Down Syndrome, Edwards Syndrome
Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02787486
- Testing
- Blood sampling for Laboratory Developed Test (LDT) analysis
- Where
- 8 sites in United States
- Volunteers
- 760 people
- Sponsor
- Progenity, Inc.
Hyperphagia, Prader-Willi Syndrome
ARD-101 for Treatment of PWS: The Hunger Elimination or Reduction Objective Trial
The goal of this clinical trial is to learn if ARD-101 works to treat hyperphagia-related behavior in patients with Prader-Willi syndrome (PWS). It will also teach us about the safety of ARD-101.
- Trial name
- HERO (NCT06828861)
- Testing
- ARD-101
- Where
- 31 sites in United States, Australia and 3 more
- Volunteers
- 68 people
- Sponsor
- Aardvark Therapeutics, Inc.