Clinical trials: Disability Evaluation
Intellectual Disability, Epilepsy
MEHMO Natural History and Biomarkers
This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have…
- Conditions
- Intellectual Disability, Epilepsy, Hypogonadisms, Microcephaly
- Trial name
- NCT06019182
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
Lesch-Nyhan Syndrome
Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report
Lesch-Nyhan Syndrome (LNS) is a genetic disorder that results in a deficit in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, which affects purine metabolism.
- Trial name
- NCT05548751
- Where
- Turkey (Türkiye)
- Volunteers
- 1 people
- Sponsor
- Uskudar University
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
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.
CLIFAHDD, Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Aprepitant for the Treatment of CLIFAHDD
There are no drug treatments for individuals with Congenital Contractures of the Limb and Face, Hypotonia, and Developmental Delay (CLIFAHDD), an ultra-rare and severe neurodevelopmental disease.
- Conditions
- CLIFAHDD, Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay, NALCN Channelopathy, Ataxia - Other
- Trial name
- NCT07845825
- Testing
- Aprepitant Powder for Oral Suspension
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- The University of Texas Health Science Center at San Antonio
Fragile X Syndrome
Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome
The study objective is to explore the efficacy, safety and tolerability of STX209 for treatment of irritability in subjects with FSX.
- Trial name
- NCT00788073
- Testing
- STX209
- Where
- 12 sites in United States
- Volunteers
- 63 people
- Sponsor
- Seaside Therapeutics, Inc.
Sjogren-Larsson Syndrome (SLS)
Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
Sjogren-Larsson syndrome (SLS) is a rare genetic disease in which patients typically exhibit ichthyosis (dry, scaly skin), intellectual disability, spasticity, seizures and a distinctive maculopathy.
- Trial name
- SLS (NCT01971957)
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- University of Nebraska
Quality of Life
Assessment of Oral Health Related Quality of Life After Full Mouth Rehabilitation Under GA
To assess Oral health related quality of life (OHRQOL) after full mouth rehabilitation under GA in a group of Egyptian children with special healthcare need.
- Trial name
- NCT03497312
- Testing
- full mouth rehabilitation
- Volunteers
- 14 people
- Sponsor
- Cairo University
Epilepsy; Seizure, Neuromuscular Diseases
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family…
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability
- Trial name
- NCGENES2 (NCT03548779)
- Testing
- Pre-visit prep, usual care + exome seq
- Where
- 3 sites in United States
- Volunteers
- 548 people
- Sponsor
- University of North Carolina, Chapel Hill
Genetic, Diagnostic Strategies
A Study of the Value of Trio Genome Sequencing in the Etiological Evaluation of Early-Onset and/or Atypical Psychiatric Disorders Without Intellectual Disability or Congenital Anomalies
According to the World Health Organization, one in eight people worldwide has a mental disorder, defined as a significant impairment in thinking, emotional regulation, or behavior.
- Trial name
- PSYGEN (NCT07686653)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 255 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Autism, Developmental Delay Disorders
Project EARLY: Engagement, Assessment, Referral, & Linkage for Young Children
Emerging evidence demonstrates that Autism Spectrum Disorder (ASD) can be reliably diagnosed by age two, and that early identification and intervention can improve outcomes.
- Trial name
- NCT02359084
- Testing
- Family Navigation, Conventional Care Management
- Where
- 10 sites in United States
- Volunteers
- 340 people
- Sponsor
- Boston University
Writing Learning Disability
Biomechanical Assessment and Biofeedback-training System for Handwriting
The purpose of this study is to investigate the real-time kinetics of handwriting regarding the design of the utensil and fine motor performances from biomechanical perspectives. It includes three parts.
- Trial name
- NCT03822702
- Testing
- Biofeedback Training, Motor Training
- Where
- Taiwan
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- National Cheng-Kung University Hospital
Cornelia de Lange Syndrome
Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS)
Based on survey data, individuals with Cornelia de Lange Syndrome (CdLS) often experience symptoms of autonomic dysfunction however there are no reported studies in which these patients have had objective testing of the autonomic…
- Trial name
- NCT03113877
- Testing
- Autonomic Dysfunction Testing
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Mayo Clinic
Physical Disability, Cognitive Dysfunction
Evaluation of mediVR-KAGURA Guided Therapy
The objective is to evaluate mediVR-KAGURA guided therapy for the treatments of physical and cognitive dysfunctions regardless of baseline disease in a prospective interventional design.
- Trial name
- NCT04562662
- Testing
- mediVR KAGURA
- Where
- Japan
- Volunteers
- 20 people
- Sponsor
- Japan Society of Clinical Research
Child Development Disorder, Child Development
Investigation of the Usability of the Dynamic Scaffolding System
The aim of the present study was to compare the duration of use of the Dynamic Scaffolding System (DSS) in children with different levels of motor impairment, to report adverse events during use, and to examine parental…
- Conditions
- Child Development Disorder, Child Development, Assistive Technology
- Trial name
- NCT05727046
- Where
- 3 sites in Turkey (Türkiye)
- Volunteers
- 100 people
- Sponsor
- Karadeniz Technical University
Cerebral Palsy and Healthy Individuals
Transcultural Validation of Activities Scale for Kids (ASK)
The Activities Scale for Kids performance (ASKp) is one of the few self-assessment questionnaires in pediatric rehabilitation that measures child perception in performance of daily routine activities.
- Trial name
- NCT03325842
- Testing
- ASKp
- Where
- Italy
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University of Modena and Reggio Emilia
Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
ATTUNE: A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome (MDS)
The primary purpose of this study is to evaluate the safety and tolerability of ION440.
- Trial name
- NCT06430385
- Testing
- ION440
- Where
- 12 sites in United States, Austria and 3 more
- Volunteers
- 48 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Profound Multiple Intellectual Disabilities
Development of a Visio-behavioral Scale to Evaluate Visual Abilities of Patients With Profound Multiple Intellectual Disabilities (PLH-Vision)
The main objective of this study is to develop and validate a visio-behavioral scale of visual abilities for subjects with profound multiple intellectual disabilities.
- Trial name
- PLH-Vision (NCT03040609)
- Testing
- Visual-behavioral Scale at day 1, Test-retest at the end of 2 weeks, Test at 6 months
- Where
- France
- Volunteers
- 232 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Obesity, Prader Willi Syndrome
Macronutrient Regulation of Ghrelin and Peptide YY
The hyperghrelinemia of children with PWS provides a unique model by which to explore the hormonal and metabolic effects of orexigenic hormones in normal and pathologic conditions.
- Trial name
- NCT02464514
- Testing
- High carbohydrate meal, High fat meal
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Duke University