Clinical trials: Disabilities, Intellectual
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Intellectual Impairment
Effects of Balance Training on Gait and Functional Strength in Children With Intellectual Disabilities
Intellectual impairment is a developmental condition that first appears in childhood and causes substantial intellectual or cognitive limitations as well as inadequate adaptation to the demands of daily life.
- Trial name
- NCT05922215
- Testing
- Dynamic Balance training, Static balance training
- Where
- Pakistan
- Volunteers
- 22 people
- Sponsor
- Riphah International University
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Williams Syndrome, Induced Pluripotent Stem Cell (Ips Cell)
A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls
This study aims to collect peripheral blood samples from children with Williams syndrome (WS) and healthy children, establish a cell line of induced pluripotent stem cells (iPSCs) derived from the subjects, and further induce and…
- Trial name
- NCT07537374
- Testing
- one-time peripheral blood collection
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Qilu Hospital of Shandong 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
Silver Russell Syndrome, Prader-Willi Syndrome
Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome
There is currently no drug with pediatric marketing authorization capable of limiting the advance in bone maturation of children with aggressive adrenarche.
- Trial name
- ANASILPRA (NCT01520467)
- Testing
- Anastrozole
- Where
- France
- Volunteers
- 27 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
FOXP1, Mental Retardation With Language Impairment and With or Without Autistic Features
FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
FOXP1, also known as Forkhead-box Protein P1, is a transcription factor protein belonging to the FOX gene family. Disruptions in the FOXP1 gene cause a phenotype characterized by global developmental delay, speech deficits, mild…
- Conditions
- FOXP1, Mental Retardation With Language Impairment and With or Without Autistic Features, Autism Spectrum Disorder
- Trial name
- NCT03718923
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Down Syndrome
Evaluating The Safety Of Donepezil Hydrochloride (Aricept) For Up To 1 Year In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome - Follow-Up To A 10-Week, Double-Blind, Placebo-Controlled Trial
The purpose of this study is to determine the safety of donepezil hydrochloride (Aricept) in children with Down syndrome who have finished the preceding 10-week, double-blind study of donepezil hydrochloride.
- Trial name
- NCT00675025
- Testing
- Donepezil hydrochloride (Aricept)
- Where
- 31 sites in United States
- Volunteers
- 117 people
- Sponsor
- Eisai Inc.
Down Syndrome
Nordic Walk on Balance and Functional Strength in Children With Down Syndrome
Down syndrome (DS) is one of the more commonly occurring genetic disorders, where mental retardation is combined with nutritional diseases.
- Trial name
- NCT06943508
- Testing
- Conventional Therapy, Nordic Walk
- Where
- Pakistan
- Volunteers
- 32 people
- Sponsor
- Riphah International University
Down Syndrome, Occupational Therapy
Occupational Therapy Home Programs in Children With Down Syndrome
Children with Down Syndrome frequently encounter difficulties with sensory functions and feeding, such as oral sensory processing issues and developmental disorders.
- Conditions
- Down Syndrome, Occupational Therapy, Feeding Problem
- Trial name
- NCT06244108
- Testing
- Occupational therapy home program
- Where
- Turkey (Türkiye)
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Bezmialem Vakif University
Sleep Apnea, Obstructive, Down Syndrome
A Pilot Study to Evaluate the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep Apnea
Obstructive sleep apnea (OSA) affects up to 1% of the general pediatric population and is associated with adverse behavior and quality of life, as well as long term cardiopulmonary system complications.
- Trial name
- NCT02344108
- Testing
- Inspire® Upper Airway Simulation System (Model 3028 IPG )
- Where
- 5 sites in United States
- Volunteers
- 42 people
- Sponsor
- Christopher Hartnick, M.D.
Challenging Behaviour
Evaluation of Parent Intervention for Challenging Behaviour in Children With Intellectual Disabilities (EPICC-ID)
Children with intellectual disabilities are likely to present with challenging behaviour. Parent mediated interventions have shown utility in influencing child behaviour, although there is a paucity of UK research into…
- Trial name
- NCT03086876
- Testing
- Level 4 Stepping Stones Triple P (SSTP)
- Where
- 4 sites in United Kingdom
- Volunteers
- 261 people
- Sponsor
- University College, London
Down Syndrome, Down Syndrome (Trisomy 21)
Sleep Intervention and Quality of Life in Down Syndrome
Aim 1 of the proposed project will be to adapt the virtual Mindfulness-Based Therapy for Insomnia (MBTI) for individuals with Down syndrome (DS).
- Trial name
- SleepDS (NCT06783725)
- Testing
- Mindfulness-Based Therapy for Insomnia, Wait-list control
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Alabama at Birmingham
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
Effects of Cuevas Medek Exercises on Trunk Control and Balance in Children With Down Syndrome
Down syndrome, a genetic condition caused by the presence of an extra copy of chromosome 21. This additional genetic material affects the normal development of the brain and body, leading to intellectual and developmental delays.
- Trial name
- NCT06461858
- Testing
- cuevas medek technique (exercise), conventional therapy
- Where
- Pakistan
- Volunteers
- 32 people
- Sponsor
- Riphah International University
Hunter Syndrome, Mucopolysaccharidosis II (MPS II)
Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase
Study TKT024EXT was a long-term, single-arm, open-label extension of Study TKT024, a one year Phase 2/Phase 3 registration study.
- Trial name
- NCT00630747
- Testing
- Idursulfase
- Where
- 52 sites in United States, Brazil and 8 more
- Volunteers
- 94 people
- Sponsor
- Shire
Transition-age Youth, Developmental Disabilities
Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
The purpose of this study is to determine the extent to which Project TEAM (Teens making Environment and Activity Modifications) is an effective, socially valid, and feasible intervention that prepares youth with developmental…
- Conditions
- Transition-age Youth, Developmental Disabilities, Cerebral Palsy, Autism
- Trial name
- ProjectTEAM (NCT02714868)
- Testing
- Project TEAM, Matched Comparison
- Volunteers
- 82 people
- Sponsor
- Boston University Charles River Campus
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
Rett Syndrome
A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome
This study will examine the potential efficacy and safety of Rett-T for core motor deficits of Rett syndrome, and will explore biological markers of safety and treatment response.
- Trial name
- NCT04041713
- Testing
- Rett-T
- Where
- Canada
- Volunteers
- 35 people
- Sponsor
- Holland Bloorview Kids Rehabilitation Hospital
Rett Syndrome
Single-Dose AAV-MECP2 Safety/Tolerability and Efficacy in Rett Syndrome
Rett syndrome (RTT) is a serious neurodevelopmental disorder that has a significant impact on patients and their families. Patients suffer from severe social dysfunction and poor quality of life, and there is currently no…
- Trial name
- NCT06856759
- Testing
- Intrathecal injection of AAV-MECP2 for the treatment of Rett syndrome
- Where
- China
- Volunteers
- 8 people
- Sponsor
- Guangzhou Women and Children's Medical Center