Clinical trials: Disabilities, Intellectual
Rett Syndrome
Gene Editing as a Therapeutic Approach for Rett Syndrome
We designed the project to validate CRISPR/Cas9-based gene editing combined with AAV-based delivery for correction of the most common MECP2 mutations both in vitro and in vivo.
- Trial name
- MECPer-3D (NCT05740761)
- Testing
- Gene editing in vitro
- Where
- Italy
- Volunteers
- 40 people
- Sponsor
- University of Siena
Obstructive Sleep Apnea, Down Syndrome
Medications for Obstructive Sleep Apnea to Improve Cognition in Children With Down Syndrome
This is an open-label study of the combination of atomoxetine and oxybutynin (ato-oxy) in children with Down syndrome and obstructive sleep apnea (OSA) documented by polysomnography (PSG).
- Trial name
- MOSAIC (NCT05933603)
- Testing
- Atomoxetine and Oxybutynin (ato-oxy)
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- University of Arizona
Down Syndrome
Correlations Phenotype / Genotype in Down Syndrome
The purpose of this study is to correlate phenotype and genotype of Down syndrome patients in order to identify the biochemical reactions involved in their mental retardation and their other phenotypic characteristics.
- Trial name
- INTREPID (NCT01034280)
- Where
- France
- Volunteers
- 524 people
- Sponsor
- Institut Jerome Lejeune
Down Syndrome, Patau Syndrome
Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies
The purpose of this study is to evaluate the performance of the IONA® test which is a non-invasive prenatal test (NIPT) for Down's syndrome and other chromosomal abnormalities in twin pregnancies, from a maternal blood sample.
- Conditions
- Down Syndrome, Patau Syndrome, Edward's Syndrome
- Trial name
- TWIN (NCT03200041)
- Testing
- Blood sample
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Premaitha Health
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
Down Syndrome
Effects of Bubble Cushion Exercises on Postural Control in Children With Down Syndrome
Conducted as a quasi-experimental study. It involves 22 children aged 6-9 years, recruited from different special education schools, who will participate in supervised balance and weight-shifting exercises for 30-45 minutes…
- Trial name
- NCT07756944
- Testing
- Bubble cushion exercises
- Where
- Pakistan
- Volunteers
- 22 people
- Sponsor
- Riphah International University
Down Syndrome, Refractive Errors
Dilated Versus Non-Dilated Wavefront Corrections for Patients With Down Syndrome
Individuals with Down syndrome (DS) live with visual deficits due, in part, to elevated levels of higher-order optical aberrations (HOA).
- Trial name
- NCT05059041
- Testing
- Dilated Refraction, Non-Dilated Refraction
- Where
- 2 sites in United States
- Volunteers
- 42 people
- Sponsor
- Ohio State University
Physical Conditioning, Human
Effect of Rhythmic Gymnastics Training in Children With Down Syndrome
Some of the clinical characteristics of people with Down syndrome (DS) are orthopedic, cardiovascular, neuromuscular, visual, cognitive and perceptual disorders, which directly affect the quality of their movements.
- Trial name
- NCT06284707
- Testing
- swimming training, rhythmic gymnastics training
- Where
- Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Castilla-La Mancha
Intellectual Disability
Motor and Cognitive Dual-task Gait Training Effect Functional Outcome in Intellectual Disability
To find out the comparative effects of motor and cognitive dual gait training on improving the balance control and mobility skills among intellectual disable patients.
- Trial name
- NCT05334498
- Testing
- Motor dual-task gait training, Cognitive dual-task gait training
- Where
- Pakistan
- Volunteers
- 54 people
- Sponsor
- Riphah International University
Mental Disorders
Effects of Emotion on Episodic Memory in Typically Developing Children and Children With Williams-Beuren Syndrome
It's well established in the literature that emotional events are more likely to be remembered than neutral events. Although this Emotional Enhancement of Memory (EEM) has been well demonstrated in the adult literature, little is…
- Trial name
- EEM-TAdev (NCT03688516)
- Testing
- Manipulation of valence and modality, Spatial and recognition memory, Source and content memory
- Where
- France
- Volunteers
- 280 people, healthy volunteers welcome
- Sponsor
- Hôpital le Vinatier
Pes Planus Down Syndrome Patients
Down Syndrome and Effects of Foot Muscle Exercise
Down syndrome (DS) is a common chromosomal pediatric disorder and accounts for approximately 8 % of all congenital anomalies. Children with DS experience delays in Cognitive, Physical, Speech and Language development.
- Trial name
- NCT05251935
- Testing
- Foot Muscle Exercise Protocol, Arch Support Insole and One Leg Balance Activities
- Where
- Pakistan
- Volunteers
- 47 people
- Sponsor
- Ziauddin University
Adrenoleukodystrophy, Batten Disease
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn…
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell
- Trial name
- DUOC-01 (NCT02254863)
- Testing
- DUOC-01
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Joanne Kurtzberg, MD
Intellectual Disability
Physical Activity, mHealth and Intellectual Disability - a Pilot Study
The main objective of this pilot study is to assess distant procedures, study experiences and feasibility of a planned randomized controlled trial investigating the use of a mHealth support tool on physical activity for…
- Trial name
- NCT04929106
- Testing
- mHealth support tool
- Where
- Norway
- Volunteers
- 9 people
- Sponsor
- University Hospital of North Norway
Hypothalamic Obesity, Prader-Willi Syndrome
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment
The purpose of this study is to evaluate the safety, tolerability, and PK of RM-718 in healthy subjects with obesity and in patients with MC4R Pathway Impairment
- Conditions
- Hypothalamic Obesity, Prader-Willi Syndrome, PWS
- Trial name
- NCT06239116
- Testing
- Part C: RM-718, Part D: RM-718
- Where
- 7 sites in United States
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Neurodevelopmental Disorders, Autism
Early Life Anemia and Children's Risk of Neurodevelopmental Disorders: National and Regional Register-based Studies
The overall project aim is to study children's neurodevelopmental outcomes (including diagnoses of autism, ADHD, and intellectual disability) following exposure to maternal anemia during pregnancy or anemia during the first year…
- Conditions
- Neurodevelopmental Disorders, Autism, ADHD, Intellectual Disability
- Trial name
- NCT06199362
- Where
- Sweden
- Volunteers
- 2,400,000 people, healthy volunteers welcome
- Sponsor
- Karolinska Institutet
Behavioral Manifestations of Lesch-Nyhan Disease
Trial of Kuvan in Lesch-Nyhan Disease
To assess the possibility that treatment with Kuvan (a form of tetrahydrobiopterin) will lessen the abnormal behavior and/or neurology commonly found in Lesch-Nyhan disease (LND); to assess biochemical changes as measured in…
- Trial name
- NCT00935753
- Testing
- sapropterin
- Where
- United States
- Sponsor
- University of California, San Diego
Pain Relief
Vibration and Cold for Pain Relief During Peripheral Intravenous Cannulation in Children With Intellectual Disability
Needle procedures are the most common and important source of pain and distress in children in the health care setting. Children with intellectual disability from any cause experience pain more frequently than healthy children.
- Trial name
- NCT02434731
- Testing
- Buzzy® device
- Where
- Italy
- Volunteers
- 71 people
- Sponsor
- IRCCS Burlo Garofolo
Rett Syndrome
Esketamine for the Treatment of Rett Syndrome
The goal of this interventional study is to learn about the efficacy and safety of Esketamine for treating children with Rett syndrome (RTT).
- Trial name
- NCT06199700
- Testing
- Esketamine hydrochloride
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Children's Hospital of Fudan University
Down Syndrome
Turkish Adaptation of Segmental Assessment of Trunk Control Scale
In infants with Down syndrome at risk in terms of neurosensory motor development retardation, the level of trunk control can determine the level of trunk control towards motor development in infants with down syndrome.
- Trial name
- NCT04657276
- Where
- Turkey (Türkiye)
- Volunteers
- 27 people
- Sponsor
- Hacettepe University
Down Syndrome, Trisomy 21
Executive Function Play Opportunities for Children With Down Syndrome
The Executive Function Play Opportunities (EXPO) study is a sequential, multiple assignment, randomized trial (SMART) evaluating adaptive caregiver-mediated intervention pathways for improving executive function (EF) in children…
- Trial name
- EXPO (NCT07792382)
- Testing
- EXPO, EXPO Extended, EXPO Foundations
- Where
- 2 sites in United States, Italy
- Volunteers
- 150 people
- Sponsor
- Colorado State University