Clinical trials: Intellectual Disabilities
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
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
Prader-Willi Syndrome
Deep Brain Stimulation for the Treatment of Obesity in Patients With Prader-Willi Syndrome
The purpose of this study is to investigate the safety and efficacy of deep brain stimulation in obese patients with Prader Willi syndrome refractory to conventional treatment.
- Trial name
- DBSPW (NCT02297022)
- Testing
- Deep Brain Stimulation
- Where
- Brazil
- Volunteers
- 6 people
- Sponsor
- University of Sao Paulo General Hospital
Obesity
School-based Physical Activity Intervention for Obesity Among Adolescents With Intellectual Disability in Hong Kong
Considering that children with intellectual disability (ID) might be more vulnerable to obesity than their counterparts in the general population.
- Trial name
- NCT04463069
- Testing
- Adapted physical activity
- Where
- China
- Volunteers
- 86 people, healthy volunteers welcome
- Sponsor
- Hong Kong Baptist University
Down Syndrome, Hemiparesis
Kinematic Analysis of Manual Dexterity
The following study aims to standardize the instrumented BBT for the objective evaluation of upper limb joint kinematics using MoCap on a population of healthy subjects between 4 and 18 years of age.
- Conditions
- Down Syndrome, Hemiparesis, Healthy Subjects
- Trial name
- SUPERFUN (NCT07875127)
- Testing
- Inertial Measurement Unit and Box and Block test
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele Roma
Genetic Disorder, Prader-Willi Syndrome
Retrospective Observational Study on Efficacy and Safety of Norditropin® in Children With Prader-Willi Syndrome
This study is conducted in Europe. The aim of this observational study is to collect data from children with Prader-Willi Syndrome, who have been treated off-label with Norditropin® for more than 12 months to seek approval for…
- Trial name
- NCT00705172
- Testing
- somatropin
- Where
- 3 sites in Denmark, Germany and 1 more
- Volunteers
- 41 people
- Sponsor
- Novo Nordisk A/S
Down Syndrome
Natural History of Dysregulation and Aging of the Immune System in People With Trisomy 21 With and Without Thymectomy
Background: Down syndrome is a genetic disorder that can cause heart defects and other problems in the body. People with Down syndrome are more likely to have infections, autoimmunity, and blood diseases.
- Trial name
- NCT07416201
- Where
- United States
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Children With Down Syndrome
Interaction Effects of Vitamin D Supplementation and Aerobic Exercises on Balance and Physical Performance in Children With Down Syndrome
Objective: To investigate the interaction effects of vitamin D supplementation and aerobic exercises on balance control and physical performance in children with Down syndrome (DS).
- Trial name
- NCT03783338
- Testing
- Aerobic exercises and Vitamin D supplementation
- Where
- Egypt
- Volunteers
- 59 people
- Sponsor
- Cairo University
Tooth Decay, Intellectual Disability
Probiotics in Special Needs Patients at High Risk for Tooth Decay: a Randomized Controlled Trial.
The goal of this randomized clinical trial is to test the effect orally administration of Probiotics based on Lactobacillus rhamnosus LR04 and Lactobacillus plantarum LP14 as adjuvant in caries prevention in subjects who can not…
- Conditions
- Tooth Decay, Intellectual Disability, Caries,Dental
- Trial name
- NCT06063239
- Testing
- Test Group, Positive Control, Negative Control
- Where
- Italy
- Volunteers
- 70 people
- Sponsor
- G. d'Annunzio University
Down Syndrome
Effects of Vojta Therapy on Functional Mobility and Gait Parameters in Children With Down Syndrome
This randomized clinical trial investigates the effects of Vojta therapy on functional mobility and gait parameters in children with down syndrome.
- Trial name
- NCT07248267
- Testing
- Vojta Therapy, repetitive sensorimotor exercises
- Where
- Pakistan
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Williams Syndrome, Duplication
Defining the Brain Phenotype of Children With Williams Syndrome
Background: Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period.
- Trial name
- NCT01132885
- Where
- United States
- Volunteers
- 415 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Classical Lissencephalies and Subcortical Band Heterotopias
Combining Exome and Transcriptome Data to Unravel the Genetic Basis of the Lissencephalies
Malformations of cortical development (MCD) are a heterogenous group of brain malformations including lissencephaly, heterotopia and polymicrogyria.
- Trial name
- NCT05185414
- Testing
- Venipuncture and skin biopsy for RNA extraction
- Where
- Belgium
- Volunteers
- 50 people
- Sponsor
- Universitair Ziekenhuis Brussel
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
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC
Autism Spectrum Disorder, Down Syndrome
A Bicycle Training Intervention
The objectives of this study are to 1) demonstrate the effectiveness of the innovative bicycle training program in teaching youth with DS and ASD how to ride a standard two wheel bike, and 2) determine the effects of the…
- Trial name
- NCT02046889
- Testing
- Bicycle Training Intervention
- Where
- 3 sites in United States
- Volunteers
- 155 people
- Sponsor
- University of Michigan
Down's Syndrome
Eyelash Line Resection for Entropion Associated With Down's Syndrome
Surgical outcome of entropion associated with Down's syndrome was evaluated. Grading scale of superficial punctate keratopathy and score of wearing glasses to correct refractive errors were measured.
- Trial name
- NCT01758718
- Testing
- Eyelash line resection
- Where
- Japan
- Volunteers
- 24 people
- Sponsor
- Kyorin University
DDX3X, Mental Retardation, X-linked 102
DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
DDX3X syndrome is a genetic cause of intellectual disability and other neurologic features including, in some cases, autism. Variants in the DDX3X gene are thought to account for 1-3% of unexplained intellectual disability in…
- Conditions
- DDX3X, Mental Retardation, X-linked 102, Autism Spectrum Disorder
- Trial name
- NCT03718910
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Mucopolysaccharidosis, Hurler Syndrome
Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
Rationale: Chemotherapy administration before a donor stem cell transplant is necessary to stop the patient's immune system from rejecting the donor's stem cells.
- Conditions
- Mucopolysaccharidosis, Hurler Syndrome, Hunter Syndrome, Maroteaux-Lamy Syndrome
- Trial name
- NCT01043640
- Testing
- Campath-1H, Cyclophosphamide, Busulfan
- Where
- United States
- Volunteers
- 46 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Down Syndrome, Trisomy 21
The Human Trisome Project
The Human Trisome Project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions. Its biobank will provide de-identified samples to research.
- Trial name
- HTP (NCT02864108)
- Where
- United States
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Mucopolysaccharidosis II, MPS II
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
The purpose of the study is to evaluate the safety, tolerability and effect on leukocyte and plasma Iduronate 2-Sulfatase (IDS) enzyme activity of ascending doses of SB-913.
- Trial name
- NCT03041324
- Testing
- SB-913
- Where
- 5 sites in United States
- Volunteers
- 9 people
- Sponsor
- Sangamo Therapeutics