Clinical trials: Disabilities, Intellectual
Intellectual Developmental Disorder, Malformations
The Belgian Genome Resource to Resolve Rare Diseases
Whole-exome (WES) or whole-genome sequencing (WGS) are recommended as first- or second-tier molecular tests for patients with developmental disorders (DD), but the clinical utility of WGS continues to be debated.
- Conditions
- Intellectual Developmental Disorder, Malformations, Dysmorphia, Developmental Delay (Disorder)
- Trial name
- BeSolveRD (NCT07051213)
- Testing
- Whole exome sequencing, Whole genome Sequencing
- Where
- Belgium
- Volunteers
- 567 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Hypotonia, Muscle, Obstructive Sleep Apnea
Long-term Evaluation of Nasopharyngeal Airway in Hypotonia
This research is studying the long term use of a nasal airway device (self-supporting nasopharyngeal airway; "ssNPA") in children with hypotonic upper airway obstruction to learn about its effectiveness and tolerability as a…
- Conditions
- Hypotonia, Muscle, Obstructive Sleep Apnea, Nasal Airway Obstruction
- Trial name
- NCT06614582
- Testing
- Self-Supporting Nasopharyngeal Airway (ssNPA)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Michigan
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Vaccine Refusal, Compliance, Patient
Vaccinations and People With Disabilities
The goal of this observational study is to learn about vaccinations hesitancy, delay or avoidance in children with chronic diseases, congenital anomalies or disabilities.
- Conditions
- Vaccine Refusal, Compliance, Patient, Disability, Intellectual, Congenital Disorders
- Trial name
- NCT05749419
- Where
- Israel
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Attention Deficit in Intellectual Disability
Outcomes Measures in Intellectual Disability
Objective quantitative primary endpoints are lacking in Clinical trials in intellectual disability. We propose to develop quantitative interactive attention evaluation criteria in patients with intellectual disability by using…
- Trial name
- EVALDI (NCT03878251)
- Testing
- Quantitative attention evaluation criteria in intellectual disability
- Where
- France
- Volunteers
- 40 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Down Syndrome, Alzheimer Disease
Cohort Study of Adult Patients With Down Syndrome at Risk of Developing Alzheimer's Disease (TriAL21)
TriAL21 study is an interventional, open, one arm, prospective, national and single center study. A total of 200 patients with Down syndrome, aged 35 years and over, without diagnosis of Alzheimer's disease will be enrolled into…
- Trial name
- NCT03901261
- Testing
- Neuro-imaging, Lumbar puncture
- Where
- France
- Volunteers
- 200 people
- Sponsor
- Institut Jerome Lejeune
Prader-Willi Syndrome
Growth Hormone in Children Under 2 Years With Prader-Willi in Hospital of Sabadell
The PWS is a genetic disease with intellectual disabilities associated with multiple manifestations in other body systems. It is characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the early years…
- Trial name
- NCT02205450
- Testing
- Recombinant Somatropin
- Where
- Spain
- Volunteers
- 16 people
- Sponsor
- Corporacion Parc Tauli
Pregnant Women, Prenatal Care
MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy
The primary objective of this study is to determine the performance characteristics (sensitivity and specificity) of the Verinata Health Test to detect fetal Trisomy 21 (T21) compared to karyotype results obtained by…
- Trial name
- MELISSA (NCT01122524)
- Where
- 11 sites in United States
- Volunteers
- 10,000 people
- Sponsor
- Verinata Health, Inc.
Down Syndrome
Resilience Training Intervention: Its Effect on Parental Acceptance/Rejection and Burden of Children With Down Syndrome
This research will test whether a resilience training program can help parents of children with Down syndrome feel more accepting of their child and experience less caregiving burden.
- Trial name
- NCT07306923
- Testing
- resilience training intervention
- Where
- Egypt
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Ain Shams University
Down Syndrome
Oxygen Uptake Kinetics During Submaximal Exercise in Adults With Down Syndrome
This study aims to compare the rate at which oxygen uptake adapts to submaximal, moderate intensity exercise (oxygen uptake kinetics) between adults with and without Down syndrome, to determine the contribution of oxygen uptake…
- Trial name
- NCT05995223
- Testing
- Submaximal exercise protocol
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- University of Nevada, Las Vegas
Prader-Willi Syndrome, Hyperphagia
Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome
The investigators propose a randomized double-blind 8 week treatment trial of intranasal oxytocin (IN-OXT) vs. placebo in 24 subjects aged 5 to 18 years with PWS in order to assess IN-OXT's affect on (1) Eating behaviors (2)…
- Trial name
- OXT-PWS (NCT02629991)
- Testing
- Intranasal Oxytocin (IN-OXT)
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Montefiore Medical Center
Diabetes Mellitus, Type 2, Prediabetic State
Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
People with learning (intellectual) disabilities have more health problems than the rest of the population; they are less likely to access help and have lifestyles that may increase their risk of getting diabetes (for example…
- Conditions
- Diabetes Mellitus, Type 2, Prediabetic State, Intellectual Disability
- Trial name
- NCT02513277
- Where
- United Kingdom
- Volunteers
- 930 people, healthy volunteers welcome
- Sponsor
- University of Leicester
Down Syndrome, Edwards Syndrome
Non-Invasive Screening for Fetal Aneuploidy
The purpose of this study is to detect whole chromosome abnormalities in maternal blood.
- Trial name
- NCT02317965
- Testing
- Maternal Blood Draw
- Where
- 10 sites in United States
- Volunteers
- 340 people
- Sponsor
- Progenity, Inc.
Aggressive Behavior in Fragile X Syndome
Inhibition of Aggressive Behavior in Participants With Fragile X Syndrome
The goal of this clinical trial is to learn if drug SRX246 works to treat irritability, agitation, aggression and self-injury (IAAS) behaviors in adult males with Fragile X Syndrome (FXS).
- Trial name
- NCT07328529
- Testing
- SRX246
- Where
- 3 sites in United States
- Volunteers
- 80 people
- Sponsor
- Azevan Pharmaceuticals
Intellectual Disability, Developmental Disability
Written Language Intervention for Adults With Intellectual and Developmental Disabilities
The purpose of this study is to evaluate the effects of a written language intervention using functional texts for young adults with intellectual and developmental disabilities.
- Trial name
- NCT05851937
- Testing
- Written language intervention
- Where
- United States
- Volunteers
- 55 people
- Sponsor
- Baylor University
Covid19
Testing for COVID-19 in High Risk Children With Intellectual and Developmental Disabilities (COV-IDD)
The purpose of this study is to understand how to prevent COVID-19 spread in a school like the Mary Cariola Center (MCC) in Rochester, NY by answering questions like these: how do activities in the school alter chances of…
- Trial name
- NCT04887129
- Testing
- COVID-19 RT-PCR test, COVID-19 Vaccine Education Campaign
- Where
- United States
- Volunteers
- 392 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Down Syndrome
DS-Connect®: The Down Syndrome Registry
The goal of this study is to develop a registry for Down syndrome (DS) to facilitate research participation by individuals with Down syndrome.
- Trial name
- NCT01950624
- Where
- United States
- Volunteers
- 100,000 people
- Sponsor
- University of Colorado, Denver
Alzheimer's Disease in Down Syndrome
Goal Attainment Scaling (GAS) Sub-Study
This is an optional sub-study that will enroll participants from LIFE-DSR parent protocol. The aim is to assess change over 16 months in individuals with Down syndrome through individualized goals set by their caregivers.
- Trial name
- NCT06484426
- Where
- 5 sites in United States
- Volunteers
- 46 people
- Sponsor
- LuMind IDSC Foundation
Mucopolysaccharidosis II
A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)
This is a Phase 2/3, multiregional, two-arm, double-blind, randomized, active (standard-of-care)-controlled study of the efficacy and safety of tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant…
- Trial name
- COMPASS (NCT05371613)
- Testing
- tividenofusp alfa, idursulfase
- Where
- 30 sites in United States, Argentina and 12 more
- Volunteers
- 65 people
- Sponsor
- Denali Therapeutics Inc.
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.