Clinical trials: Intellectual Disabilities
Rett Syndrome
Tolerability of the Immersive Virtual Reality System Grail in Subjects Affected by Rett Syndrome
The main goal of this study is to investigate the tolerability to the use of the GRAIL system in subjects affected by Rett syndrome, particularly referred to: 1.
- Trial name
- NCT05691582
- Testing
- GRAIL
- Where
- Italy
- Volunteers
- 9 people
- Sponsor
- IRCCS Eugenio Medea
Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies
Genetic Disease Gene Identification
This is a a study to identify inherited disease genes. The study will use molecular techniques to map genetic diseases using techniques such as Affymetrix SNP chips.
- Conditions
- Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies, Idiopathic Generalised Epilepsy, Familial Dementia
- Trial name
- NCT00916903
- Where
- United States
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- State University of New York - Upstate Medical University
Rett Syndrome
Open Label Trial of Triheptanoin (UX007) in Treatment of Rett Syndrome.
This is a single-center, exploratory, open-label study in 10 girls diagnosed with Rett Syndrome. The study will consist of the following 4 parts: Screening/Baseline run-in, Titration/Dose-Setting, Treatment, and Washout/Follow-up.
- Trial name
- UX007 (NCT03059160)
- Testing
- Tridecanoic Acid
- Volunteers
- 10 people
- Sponsor
- Sheba Medical Center
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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.
Down Syndrome
Liq-NOL Efficacy in Pediatric Patients With Down Syndrome
The purpose of this study is to measure the effects of LiQ-NOL supplementation on language production using the Clinical Evaluation of Language Fundamentals test, language sampling using the mean length of utterance test, and…
- Trial name
- NCT00891917
- Testing
- Ubiquinol-10 Syrup
- Where
- United States
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Muscle Hypotonia, Down Syndrome
Assessment of Hypotonia in Children With Down Syndrome
Hypotonia is a common trait in infants with Down syndrome, resulting in pathologies and delays in gaining basic motor skills. There are no screenings available to aid in early diagnosis, therefore, the purpose of this study is to…
- Conditions
- Muscle Hypotonia, Down Syndrome, Muscle, Floppy, CHILD Syndrome
- Trial name
- NCT05131542
- Where
- Spain
- Volunteers
- 50 people
- Sponsor
- Universidad de Murcia
Prader-Willi Syndrome
Observational Study of VYKAT™ XR in Patients With Prader-Willi Syndrome
Prospective observational study developed to generate more evidence of the safety profile, clinical characteristics and outcomes of patients with PWS treated with VYKAT XR.
- Trial name
- NCT07450664
- Testing
- VYKAT XR
- Where
- 25 sites in United States
- Volunteers
- 200 people
- Sponsor
- Soleno Therapeutics, Inc.
MPS II, Hunter Syndrome (MPS II)
RGX-121-3102 Gene Therapy in Participants With MPS II (Hunter Syndrome)
RGX-121 is a gene therapy which is intended to deliver a functional copy of the iduronate-2-sulfatase gene (IDS) to the central nervous system.
- Trial name
- NCT07236606
- Testing
- RGX-121-3102
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- REGENXBIO Inc.
Mild Intellectual Disability
Comparison of Orthodontic Aligner Treatment Protocols Managed Through Remote Monitoring Versus In-Person Care
This study aims to assess patient adherence to orthodontic treatment with dental aligners delivered through remote monitoring compared with in-person care.
- Trial name
- NCT07413003
- Testing
- Remotely monitored orthodontic aligner treatment, In-person monitored orthodontic aligner treatment
- Where
- Italy
- Volunteers
- 120 people
- Sponsor
- Oasi Research Institute-IRCCS
Intellectual Disabilities Global Developmental Delay
Dyadic Creative Arts Therapies-based Intervention for Children With Intellectual and Developmental Disabilities
Background: Interactions between parents and children with intellectual and developmental disabilities (IDD) tend to be directive and didactic lacking in playfulness and enjoyment.
- Trial name
- NCT06541782
- Testing
- Dyadic CAT-based Intervention, Psycho-Educational Parent Counseling
- Where
- Israel
- Volunteers
- 60 people
- Sponsor
- University of Haifa
Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II)
Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
Hypothesis: Children diagnosed with a lysosomal disease will exhibit developmental, adaptive, and behavioral strengths and difficulties depending upon 1) biomedical risk factors (i.e.
- Conditions
- Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II), Mucopolysaccharidosis Type III (MPS III), Mucopolysaccharidosis Type VI (MPS VI)
- Trial name
- NCT01938014
- Where
- 3 sites in United States
- Volunteers
- 19 people
- Sponsor
- University of Chicago
Fragile X Syndrome
Probiotic Intervention for Microbiome Modifications and Clinical Improvements in Fragile X Syndrome
The primary objective of this clinical trial is to evaluate efficacy of probiotic mixture which contains Lactobacillus casei, Lactobacillus salivarius and Bifidobacterium breve, in children with Fragile X aged 3-18 years.
- Trial name
- NCT06279858
- Testing
- Probiotics
- Where
- Serbia
- Volunteers
- 15 people
- Sponsor
- Specila hospital for cerebral palsy and developmental neurology
Mental Retardation
"Cognitus & Moi": a New Cognitive Remediation Tool
Holders children with intellectual disabilities have great difficulty in adapting to social situations and relationships.Cognitive impairment associated with intellectual disability are important factors to understand their…
- Trial name
- COGNITUS (NCT02797418)
- Testing
- Cognitive remediation program
- Where
- France
- Volunteers
- 18 people
- Sponsor
- Hôpital le Vinatier
Fragile X Syndrome, Fragile X Mental Retardation Syndrome
A Trial of Metformin in Individuals With Fragile X Syndrome
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 25 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
- Met (NCT03479476)
- Testing
- Metformin
- Where
- 3 sites in United States, Canada
- Volunteers
- 120 people
- Sponsor
- University of California, Davis
Prader-Willi Syndrome
A Study of Diazoxide Choline in Patients With Prader-Willi Syndrome
The purpose of this is study is to evaluate the effects of DCCR (diazoxide choline controlled release tablets) in children and adults with Prader-Willi syndrome.
- Trial name
- NCT03440814
- Testing
- DCCR
- Where
- 29 sites in United States, United Kingdom
- Volunteers
- 127 people
- Sponsor
- Soleno Therapeutics, Inc.
Hepato-splenomegaly, Dysostosis Multiplex
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood
- Conditions
- Hepato-splenomegaly, Dysostosis Multiplex, Seizures, Mental Retardation
- Trial name
- BioGM1/BioGM2 (NCT02298647)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Fragile X Syndrome
Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Fragile X Syndrome (FXS) is the most common known inherited form of mental impairment, developmental disability and autism. Minocycline is an antibiotic that has recently been used to treat the mouse model for Fragile X, and was…
- Trial name
- NCT00858689
- Testing
- Minocycline
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- FRAXA Research Foundation
Obstructive Sleep Apnea
Optimizing the Management of OSA in Children With Down Syndrome
The objective of this retrospective descriptive study is to assess current practices for the screening and surgical treatment of OSA in children with Down syndrome at the Strasbourg University Hospital and to disseminate a…
- Trial name
- SAOS-21 (NCT07334444)
- Where
- France
- Volunteers
- 30 people
- Sponsor
- University Hospital, Strasbourg, France
Tuberous Sclerosis Complex, TSC Related Cognitive Disability
Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a genetic disease that leads to mental retardation in over 50% of patients, and to learning problems, behavioral problems, autism and epilepsy in up to 90% of patients.
- Conditions
- Tuberous Sclerosis Complex, TSC Related Cognitive Disability, TSC Related Autism, TSC Related Learning Problems
- Trial name
- RAPIT (NCT01730209)
- Testing
- Everolimus
- Where
- Netherlands
- Volunteers
- 60 people
- Sponsor
- Erasmus Medical Center