Clinical trials: Intellectual Disabilities
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.
Hyperekplexia, CTNNB1 Gene Mutation
Hyperekplexia in Patients With CTNNB1 Mutation
A few years ago, a new genetic disorder (OMIM # 615075) has been associated with loss-of-function variations in the CTNNB1 gene.
- Trial name
- CTNNB1 (NCT05168969)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Intellectual Disability
Augmentative and Alternative Communication in Games With Virtual Reality in Intellectual Disabilities
Background: Games using motion capture from webcam have become increasingly popular. A population that lacks much stimulus in the teaching-learning process has under-explored the benefits of this kind of games: The Intellectually…
- Trial name
- NCT03033797
- Testing
- MoviLetrando, MoveHero
- Where
- Brazil
- Volunteers
- 165 people
- Sponsor
- Faculdade de Medicina do ABC
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
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
Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
The purpose of the study is to prospectively assess longitudinal changes in biomarkers (MECP2, potential biomarkers of target engagement and disease activity) in cerebrospinal fluid (CSF) and blood; characterize longitudinal…
- Trial name
- NCT06014541
- Where
- 5 sites in United States
- Volunteers
- 29 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Hunter Syndrome
An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment
This extension study of HGT-HIT-045 is designed to collect long-term safety data in pediatric participants with Hunter syndrome and cognitive impairment who are receiving intrathecal (IT) idursulfase-IT and intravenous (IV)…
- Trial name
- NCT01506141
- Testing
- Idursulfase-IT, Elaprase
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- Takeda
Hyperphagia, Prader-Willi Syndrome
Prader-Willi Syndrome and Appetite
Excessive weight gain is a cardinal feature of Prader-Willi syndrome (PWS) for which there is presently no effective treatment. It is caused by increased appetite, decreased perception of satiety and obsessive and compulsive…
- Trial name
- NCT00175305
- Testing
- Sandostatin LAR
- Where
- Canada
- Volunteers
- 10 people
- Sponsor
- University of British Columbia
Mucopolysaccharidosis II
A Study of Potential Treatment-Responsive Biomarkers and Clinical Outcomes in Hunter Syndrome
This is a six-part prospective, multicenter, multiregional observational study of patients with mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, to assess biomarkers potentially related to disease severity…
- Trial name
- NCT04007536
- Testing
- No Intervention
- Where
- 6 sites in United States, Netherlands and 1 more
- Volunteers
- 18 people
- Sponsor
- Denali Therapeutics Inc.
Health Knowledge, Intellectual Developmental Disorder
Easy-to-Read Content Effectiveness Evaluation
Individuals with intellectual disabilities face challenges in accessing medical services and health education due to communication barriers and limited support tools.
- Conditions
- Health Knowledge, Intellectual Developmental Disorder, Visual Impairment
- Trial name
- NCT07036575
- Testing
- Standard Visual Health Education, Easy-Read Instructor-Guided Education, Easy-Read Audio-Based Self-Learning
- Where
- Taiwan
- Volunteers
- 250 people
- Sponsor
- National Taiwan University Hospital
Rett Syndrome
Osteopathic Manipulative Treatment for Constipation in People With Rett Syndrome
Constipation consists of bowel symptoms characterized by difficulty or infrequency passage of stool, stiff stool, or a feeling of incomplete evacuation. However, its impact goes far beyond this definition.
- Trial name
- NCT05687214
- Testing
- Osteopathic manipulative treatment
- Where
- Italy
- Volunteers
- 12 people
- Sponsor
- Ariel University
Mucopolysaccharidosis II
An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II
A Phase II open-label, parallel group, 2 sites (Brazil), designed to evaluate the long term safety and efficacy of study drug for the treatment of the MPS II.
- Trial name
- NCT03708965
- Testing
- JR-141
- Where
- 2 sites in Brazil
- Volunteers
- 19 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Prader-Willi Syndrome
Stress and Brain Response Using MEG in PWS
Individuals with Prader-Willi Syndrome (PWS) have increased hunger and food seeking behaviour, as well as learning (cognitive) challenges.
- Trial name
- NCT04032639
- Where
- 2 sites in Canada
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
Developmental Disability, Development Delay
Early Detection of Children With Developmental Disabilities in Assiut Governorate
The study aimed to determine the effectiveness of a designed training program for nurses toward early detection of developmental disabilities among children (0-3 years).
- Conditions
- Developmental Disability, Development Delay, Motor Delay, Down Syndrome
- Trial name
- NCT06263777
- Testing
- Nurses training program on early detection of disability
- Where
- Egypt
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Beni-Suef University
Glut1 Deficiency Syndrome, De Vivo Disease
Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test
The study aims at validating the diagnostic performances of the METAglut1, a blood in vitro diagnostic test, for the simple and early diagnosis of the Glut1 deficiency syndrome (Glut1DS, or De Vivo disease).
- Conditions
- Glut1 Deficiency Syndrome, De Vivo Disease, Seizures, Movement Disorders
- Trial name
- METAglut1 (NCT03722212)
- Testing
- METAglut1
- Where
- 28 sites in France
- Volunteers
- 636 people
- Sponsor
- METAFORA biosystems
Organic, Including Symptomatic, Mental Disorders, Substance Use
Exploring the Comorbidity Between Mental Disorders and General Medical Conditions
Mental disorders have been shown to be associated with a number of general medical conditions (also referred to as somatic or physical conditions).
- Conditions
- Organic, Including Symptomatic, Mental Disorders, Substance Use, Schizophrenia, Mood [Affective] Disorders
- Trial name
- COMO-GMC (NCT03847753)
- Testing
- Organic Disorders, Substance Use Disorders, Schizophrenia Disorders
- Volunteers
- 5,940,299 people
- Sponsor
- University of Aarhus
Lesch-Nyhan Disease, Self-injurious Behavior
Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
The purpose of this research study is to gather scientific information about the effectiveness and safety of the study drug, Ecopipam (PSYRX 101), for the treatment of self-injurious behaviors when compared with the effectiveness…
- Trial name
- NCT01751802
- Testing
- Ecopipam
- Where
- 2 sites in United States, Spain
- Volunteers
- 9 people
- Sponsor
- Emalex Biosciences Inc.
Intellectual Disability
Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs
16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents.
- Trial name
- SEESIC (NCT03644797)
- Testing
- Exome sequencing
- Where
- France
- Volunteers
- 18 people
- Sponsor
- Hospices Civils de Lyon
Fragile X Syndrome
Metformin in Children and Adults With Fragile X Syndrome
Fragile X Syndrome (FXS) is caused by loss of FMR1 expression on the X chromosome that leads to increased mRNA translation, which results in hyperactivation of ERK (extracellular signal-regulated kinase) and mTORC1 (mechanistic…
- Trial name
- NCT03722290
- Testing
- Metformin
- Where
- Canada
- Volunteers
- 15 people
- Sponsor
- Université de Sherbrooke
Down Syndrome, Family
The Coping With and Caring for Infants With Special Needs Intervention in Down Syndrome Infants
The objective is to compare the impact of standard infant physical therapy and the family-centered program, Coping with and Caring for Infants with Special Needs (COPCA), on infants born with Down syndrome.
- Conditions
- Down Syndrome, Family, Physical Disability
- Trial name
- NCT06197035
- Testing
- Coping With and Caring for Infants With Special Needs, Standard Physiotherapy
- Where
- Spain
- Volunteers
- 40 people
- Sponsor
- University of Seville