Clinical trials: Disabilities, Intellectual
Trisomy 21
Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom
The main objective of this study is to estimate the intrinsic diagnostic qualities of the digital dPCR in the screening of T21 from a multicentrique sample of patients with pregnancies at high risk of T21 (risk > 1/250).
- Trial name
- DIgiT21 (NCT02872948)
- Testing
- Diagnostic
- Where
- France
- Volunteers
- 1,260 people
- Sponsor
- University Hospital, Grenoble
Intellectual Disability, Mild, Muscular Strength
Effects of a Progressive Adapted Physical Education Program on Muscular Strength and Endurance in Adolescents With Mild Intellectual Disability
This randomized controlled trial investigated the effects of a 10-week progressive adapted physical education program on muscular strength and muscular endurance in adolescents with mild intellectual disability.
- Trial name
- PAPE-MID (NCT07599033)
- Testing
- Progressive Adapted Physical Education Program
- Where
- Turkey (Türkiye)
- Volunteers
- 46 people
- Sponsor
- Inonu University
ADNP, Helsmoortel-Van Der Aa Syndrome
ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
ADNP, also known as Activity Dependent Neuroprotective Protein, is a rare neurodevelopmental disorder caused by mutations encompassing the ADNP gene on chromosome 20.
- Conditions
- ADNP, Helsmoortel-Van Der Aa Syndrome, Autism Spectrum Disorder
- Trial name
- NCT03718936
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Aneuploidy, Trisomy 21
Prenatal Test for Fetal Aneuploidy Detection
The purpose of this study is to develop and evaluate a blood test for pregnant women for detection of fetal aneuploidy.
- Trial name
- NCT01256606
- Where
- 6 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Roche Sequencing Solutions
Stereotyped Behavior, Mental Retardation
Phase II Study of Stereotypes and Mental Retardation: Neurobiological Basis
OBJECTIVES: I. Determine differences between persons with repetitive behavior disorders and matched controls on measures of motor control relevant to basal ganglia pathophysiology. II.
- Trial name
- NCT00004300
- Testing
- bromocriptine, sertraline hydrochloride
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Prader-Willi Syndrome
Long-term Interventional Follow-up Study of Children With Prader-Willi Syndrome Included in the OTBB3 Clinical Trial
This study is a prospective, multicentre, interventional cohort study in children with Prader-Willi Syndrome (PWS) over 4 years (no treatment administered). The duration of the preceding OTTB3 study is 26 weeks.
- Trial name
- OTBB3-FU (NCT05032326)
- Testing
- Follow-up study of the treated cohort, Follow-up study of the untreated cohort
- Where
- 12 sites in France
- Volunteers
- 80 people
- Sponsor
- University Hospital, Toulouse
Rett Syndrome
Intensive Anti-Scoliosis Postural Intervention for Individuals With Rett Syndrome Supported by a Smartphone Application
Background: Scoliosis is the most common orthopedic comorbidity in Rett syndrome (RTT), with a prevalence of 94% and a mean curve progression of 14-21° Cobb annually.
- Trial name
- NCT05488938
- Testing
- Rehabilitative Intervention
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Ariel University
Autism, Intellectual Disabilities With Other Behavioral Symptoms
Regulating Together for Intellectual Disability and Autism: A Group Behavioral Therapy for for Emotion Dysregulation
The goal of this study is to help children with autism and a co-occurring intellectual disability and their families learn practical strategies for managing issues like irritability, aggression, and other challenging behaviors.
- Conditions
- Autism, Intellectual Disabilities With Other Behavioral Symptoms, Intellectual Disability
- Trial name
- RT-ID (NCT07624448)
- Testing
- Regulating Together group therapy
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Mercy Hospital Kansas City
Down Syndrome
Physical Fitness in DS: A Comparison of Cuevas Medak and Rebound Exercises
This randomized clinical trial investigates the comparative effects of Cuevas Medak Exercises Vs Rebound Exercises on physical fitness in DS.
- Trial name
- DownSyndrome (NCT07248449)
- Testing
- Cuevas Medak Exercises
- Where
- Pakistan
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Down Syndrome
The Effects Of "Minds In Motion The Maze" on Balance and Gate In Children With Down Syndrome
This study explores the impact of "Minds In Motion: The Maze" on balance and gait in children with Down syndrome-a population often facing motor and coordination challenges.
- Trial name
- NCT06955052
- Testing
- "Minds In Motion The Maze", conventional treatment
- Where
- Pakistan
- Volunteers
- 20 people
- Sponsor
- Riphah International University
Intellectual Disability, Exercise
Effects of Guided Exercise on Functional Performance and Independence in Adults With Intellectual Disability
Adults with intellectual disabilities (ID) have significantly lower levels of fitness compared to the general population. The health benefits of enhanced muscular strength in the general population are well established.
- Conditions
- Intellectual Disability, Exercise, Obesity
- Trial name
- NCT04616638
- Testing
- Resistance Training for Empowerment (RT-POWER), A traditional RT intervention
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- University of Delaware
Down Syndrome
Caregiver-Involved Nutrition Education in Down Syndrome
This single-arm, quasi-experimental pre-post study evaluated an 8-week online nutrition education program for individuals with Down syndrome and their caregivers in Ataşehir, Istanbul, Türkiye.
- Trial name
- NCT07330128
- Testing
- Caregiver-Involved Nutrition Education
- Where
- Turkey (Türkiye)
- Volunteers
- 62 people
- Sponsor
- Hülya YILMAZ ÖNAL
Hypothyroidism, Trisomy 21
Use of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients
Children with levothyroxine (T21) have developmental delay and other functional gastrointestinal (GI) issues that may negatively affect L-T4 tolerability and absorption.
- Trial name
- NCT04747275
- Testing
- Liquid stable levothyroxine (L-T4) Tirosint-SOL, Oral tablet levothyroxine (L-T4)
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Children's Mercy Hospital Kansas City
Hypotonia-Cystinuria Syndrome, Muscle Hypotonia
PREPL in Health and Disease
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
- Conditions
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers, Dwarfism, Growth Hormone Deficiency
- Trial name
- PHD (NCT02263781)
- Testing
- Blood draw, muscle biopsy
- Where
- Belgium
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Autism Spectrum Disorder, Fra(X) Syndrome
Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X Syndrome
The purpose of this study is to accumulate and quantitatively analyze data on the microbiome, serotonin signaling and genetics, and inflammatory cytokines from patients with Autism Spectrum Disorder and Fragile X Syndrome.
- Trial name
- NCT04869930
- Testing
- specimen collection
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Nova Mentis Life Science Corp
Myotonic Dystrophy 1, Huntington Disease
NIPD on cffDNA for Triplet Repeat Diseases
The purprose of this study is to develop and validate an analytical NIPD test for triplet repeat disesases by NGS analysis from maternal blood, searching for the familial mutation in families at risk of having one of the…
- Conditions
- Myotonic Dystrophy 1, Huntington Disease, Fragile X Syndrome
- Trial name
- NCT04698551
- Testing
- Non invasive prenatal diagnosis
- Where
- France
- Volunteers
- 36 people
- Sponsor
- University Hospital, Montpellier
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis
Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals…
- Conditions
- Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple, Fragile X Syndrome
- Trial name
- NCT06139172
- Testing
- Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual
- Where
- United States
- Volunteers
- 79 people
- Sponsor
- Rush University Medical Center
Genetic Disorder, Prader-Willi Syndrome
Retrospective Observational Study on Efficacy and Safety of Norditropin® in Children With Prader-Willi Syndrome
This study is conducted in Europe. The aim of this observational study is to collect data from children with Prader-Willi Syndrome, who have been treated off-label with Norditropin® for more than 12 months to seek approval for…
- Trial name
- NCT00705172
- Testing
- somatropin
- Where
- 3 sites in Denmark, Germany and 1 more
- Volunteers
- 41 people
- Sponsor
- Novo Nordisk A/S
Obstructive Sleep Apnea, Down Syndrome
Treatment of Obstructive Sleep Apnea With Personalized Surgery in Children With Down Syndrome (TOPS-DS)
The overall objective of this randomized clinical trial is to test the effectiveness of a personalized approach to the surgical treatment of OSA in children with Down syndrome (DS).The estimated prevalence of obstructive sleep…
- Trial name
- TOPS-DS (NCT05508971)
- Testing
- DISE-Directed Surgery, Adenotonsillectomy
- Where
- 7 sites in United States
- Volunteers
- 304 people
- Sponsor
- Oregon Health and Science University
Rett Syndrome, RTT
The Diagnostic Experience of Male Rett Syndrome
The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome.
- Trial name
- NCT06346106
- Testing
- Male Rett
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Children's Hospital Colorado
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