Clinical trials: Disabilities, Intellectual
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
Down Syndrome
TheraTogs Versus Reciprocal Electrical Stimulation on Children With Diplegic Cerebral Palsy: a Randomized Controlled Trial
Children with diplegic cerebral palsy exhibit postural restrictions as a result of both primary and secondary brain damage impairments. One of the main goals of cerebral palsy rehabilitation is to improve balance and stability.
- Trial name
- NCT05702632
- Testing
- 1- Reciprocal electrical stimulation, TheraTogs orthotic treatment, traditional physical therapy program
- Where
- Egypt
- Volunteers
- 15 people
- Sponsor
- Cairo University
Intellectual Disability
Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
Children with disabilities are frequently ignored by the general population, hence the development of movement evaluation and training devices for use in special education settings are relatively overlooked.
- Trial name
- NCT02486081
- Testing
- smart soccer ball
- Where
- 2 sites in Taiwan
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Chang Gung Memorial Hospital
Rett Syndrome, MECP2 Duplication
Biobanking of Rett Syndrome and Related Disorders
The overarching purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), RTT-related disorders including CDKL5, FOXG1, and individuals with MECP2…
- Conditions
- Rett Syndrome, MECP2 Duplication, CDKL5, FOXG1 Disorders
- Trial name
- NCT02705677
- Where
- 12 sites in United States
- Volunteers
- 752 people
- Sponsor
- University of Alabama at Birmingham
Prader-Willi Syndrome, Hyperphagia
Effects of Livoletide (AZP-531) on Food-related Behaviors in Patients With Prader-Willi Syndrome
This Phase 2b/3 double-blind, placebo-controlled study will evaluate the safety, tolerability, and effects of livoletide on food-related behaviors in patients with Prader-Willi Syndrome (PWS).
- Trial name
- ZEPHYR (NCT03790865)
- Testing
- Livoletide
- Where
- 37 sites in United States, Australia and 6 more
- Volunteers
- 158 people
- Sponsor
- Millendo Therapeutics SAS
Down Syndrome
Egcg, a dyrk1a Inhibitor as Therapeutic Tool for Reversing Cognitive Deficits in Down Syndrome Individuals.
There is a mounting evidence of the modulation properties of the major catechin in green tea, epigallocatechin-3-gallate (EGCG), on dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene overexpression in the…
- Trial name
- NCT01394796
- Testing
- Epigallocatechin-3-gallate (EGCG)
- Volunteers
- 31 people
- Sponsor
- Parc de Salut Mar
Intellectual Disability, Developmental Disability
Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
Currently, there are no national pre-requisites for training to become or to be hired as an ES (Employment Specialist). Staff providing employment services have a broad range of educational and training backgrounds.
- Trial name
- NCT06586827
- Testing
- VCU-RRTC Online Course, Zoom Technical Assistance Sessions (6 total)
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Virginia Commonwealth University
Mucopolysaccharidosis Type II
Core Outcome Set for Head, Neck and Respiratory Disease in Mucopolysaccharidosis II
The Mucopolysaccharidoses (MPS) are a family of genetic metabolic disorders, caused by specific enzyme deficiencies which result in accumulation of partially degraded glycosaminoglycans (GAGs) within various tissues.
- Trial name
- COHERE (NCT06022380)
- Where
- United Kingdom
- Volunteers
- 46 people
- Sponsor
- Manchester University NHS Foundation Trust
Healthy Volunteers, Down Syndrome
Leucettinib-21 First-in-Human Phase 1 in Healthy Volunteers and Subjects With Down Syndrome and Alzheimer's Disease
Leucettinib-21 First-in-Human Phase 1 Study in 6 Parts: Single (Part 1 and 5) and Multiple (Part 3 and 6) Ascending Doses, and Food-Effect (Part 2) in Healthy Subjects, and Single Dose (Part 4) in People with Down Syndrome (DS)…
- Conditions
- Healthy Volunteers, Down Syndrome, Alzheimer's Disease
- Trial name
- LEUCETTA (NCT06206824)
- Testing
- Leucettinib-21
- Where
- France
- Volunteers
- 152 people, healthy volunteers welcome
- Sponsor
- Perha Pharmaceuticals
Down Syndrome (DS)
The Effect of the HEP Approach in Infants With Down Syndrome
This study evaluates the effect of the HEP (Homeostasis-Enrichment-Plasticity) approach on motor and sensory development in infants with Down syndrome.
- Trial name
- HEP-DS (NCT07163780)
- Testing
- HEP Intervention, Traditional Therapy
- Where
- Turkey (Türkiye)
- Volunteers
- 26 people
- Sponsor
- Izgi Miray Demirbag
Angelman Syndrome, Prader-Willi Syndrome
Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome
The overall purpose of this project is to establish the capability of screening for Angelman syndrome (AS) and Prader-Willi syndrome (PWS) in public health newborn screening (NBS) programs, with an aim of developing and…
- Trial name
- NCT05783791
- Testing
- Newborn Screening Assay
- Where
- United States
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Madison
Lesch-Nyhan Disease
Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease
The purpose of this study is to determine the effects of ecopipam in patients with Lesch-Nyhan Disease (LND). Ecopipam specifically blocks the actions of one chemical in the brain that helps nerves talk to one another; ecopipam…
- Trial name
- NCT01065558
- Testing
- Ecopipam
- Where
- 2 sites in United States
- Volunteers
- 5 people
- Sponsor
- Psyadon Pharma
X-linked Adrenoleukodystrophy
IT and IV Lentiviral Gene Therapy for X-ALD
This is a Phase I/II clinical trial of gene therapy for treating X-linked adrenoleukodystrophy using a high-safety, high-efficiency, self-inactivating lentiviral vector (LV) TYF-ABCD1 to functionally correct the defective gene.
- Trial name
- NCT03727555
- Testing
- Intrathecal and intravenous LV gene therapy
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Down Syndrome
Transcranial Photobiomodulation With Near-Infrared Light for Language in Individuals With Down Syndrome
The aim of this study is to better understand the effects of transcranial photobiomodulation (tPBM) on neural oscillations of individuals diagnosed with Down syndrome.
- Trial name
- TransPhoM-DS (NCT04668001)
- Testing
- Near-Infrared Transcranial Photobiomodulation
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Massachusetts General Hospital
Intellectual Disability
Effectiveness of Active Video Games in Children With Intellectual Disabilities
Background: Children with intellectual disabilities (ID) are more vulnerable to obesity when compared to the normal children (Getchell et al., 2012; Maiano, 2011).
- Trial name
- NCT04277130
- Testing
- Intervention with active video games
- Volunteers
- 203 people
- Sponsor
- Hong Kong Baptist University
Developmental Disability, Intellectual Disability
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system.
- Conditions
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly
- Trial name
- NCT05295277
- Testing
- Standard of care genetic testing group
- Where
- 8 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Bionano Genomics
Trisomy 21, 18 and 13 Screening
T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk Patients
The purpose of this study is to evaluate the performance of non invasive screening in a population of pregnant women with and without in vitro fertilisation (IVF) concomitantly to regular first trimester trisomy 21 (T21)…
- Trial name
- DEPOSA (NCT02424474)
- Testing
- Genetic NIPT, Regular serum screening
- Where
- France
- Volunteers
- 933 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Anophthalmos
Molecular Analysis of Microphthalmia/Anophthalmia
This study will try to learn more about the genetic cause and symptoms of microphthalmia (small eyes) or anophthalmia (absence of one or both eyes).
- Trial name
- NCT00011843
- Where
- United States
- Volunteers
- 450 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Self-Injurious Behavior, Mental Retardation
Self-Injury: Diagnosis and Treatment
Self-injurious behavior is behavior in which a person hurts or harms himself. This behavior sometimes occurs in people with mental retardation or autism.
- Trial name
- NCT00065936
- Testing
- Naltrexone hydrochloride, Transcutaneous sensory nerve stimulation
- Where
- 2 sites in United States
- Volunteers
- 37 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Mucopolysaccharidosis (MPS), Hunter Syndrome
A Study of ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis [MPS] II)
The main aim of this study is to evaluate the ability of a prophylactic immune tolerizing regimen (ITR) to prevent or reduce the development of high titer anti-idursulfase antibodies in treatment-naïve participants with Hunter…
- Trial name
- NCT05494593
- Testing
- ELAPRASE, Rituximab, Methotrexate
- Where
- 8 sites in United States
- Sponsor
- Takeda
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