Clinical trials: Disabilities, Intellectual, open to volunteers
Silver Russell Syndrome, Beckwith-Wiedemann Syndrome
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of…
- Conditions
- Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus, Angelman Syndrome
- Trial name
- IDMet (NCT05945576)
- Where
- 20 sites in France
- Volunteers
- 2,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Intellectual Disabilities (F70-F79), Autism Spectrum Disorder
Emotion Processing and Regulation in People With Intellectual Disability
BACKGROUND Intellectual disability (ID) is neurodevelopmental disorder with social impairments, in areas such as interpersonal communication skills and emotion regulation.
- Trial name
- EPRID (NCT06894264)
- Testing
- Emotion regulation
- Volunteers
- 40 people
- Sponsor
- Karolinska Institutet
Glycogen Storage Disease, GSD Type 0A
Rare Glycogen Storage Diseases Natural History Study
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon…
- Conditions
- Glycogen Storage Disease, GSD Type 0A, GSD Type 0B, GSD VII
- Trial name
- NCT06795152
- Testing
- No intervention
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Amyloid Plaque, Beta-Amyloid
A Study to Assess the Effects of ACI-24.060 in Alzheimer's Disease and in Down Syndrome (ABATE Study)
The purpose of this study is to assess the safety, tolerability, immunogenicity and pharmacodynamic effects of ACI-24.060 in subjects with prodromal Alzheimer's disease and in non-demented adults with Down syndrome.
- Conditions
- Amyloid Plaque, Beta-Amyloid, DSAD, Prodromal Alzheimer's Disease
- Trial name
- NCT05462106
- Testing
- ACI-24.060 at Dose A in Study Part 1a, ACI-24.060 at Dose B in Study Part 1a, ACI-24.060 at Dose C in Study Part 1a
- Where
- 26 sites in United States, Spain and 1 more
- Volunteers
- 304 people
- Sponsor
- AC Immune SA
Falls, Intellectual Disabilities (F70-F79)
Falls In Spanish People With Intellectual Disabilities: Risk Factors And Predictive Equation. Falls.Di Study
This multicenter study aims to understand the specific risk factors for falls in Spanish people with intellectual disabilities in order to design an instrument to assess the risk of future falls in this population.
- Conditions
- Falls, Intellectual Disabilities (F70-F79), Risk Factors
- Trial name
- Falls_Di (NCT07282704)
- Where
- Spain
- Volunteers
- 600 people
- Sponsor
- Fundación Hospitalarias Betanzos
Prader-Willi Syndrome
Register of Patients With Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is a rare syndrome with a prevalence of 15 to 20 000 at birth. PWS represents a large fraction of mental retardation syndromes due to a genetic cause and the most frequent cause of genetic obesity.
- Trial name
- NCT02829684
- Testing
- Data collection
- Where
- France
- Volunteers
- 500 people
- Sponsor
- University Hospital, Toulouse
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Down Syndrome
Effects of Task-oriented Training on Visual-motor Integration and Upper Limb Function in Children With Down Syndrome
The condition known as Down Syndrome (DS) is caused by trisomy 21, or the presence of an extra copy of chromosome 21. DS is the most common survivable autosomal aneuploidy and one of the genetically complicated problem compatible…
- Trial name
- NCT06943261
- Testing
- task oriented training, conventional therapy
- Volunteers
- 28 people
- Sponsor
- Riphah International University
Brain Disorders, Aicardi Syndrome
Brain Development Research Program
Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus…
- Trial name
- NCT00305305
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- University of California, San Francisco
Prader-Willi Syndrome
A 2-Part Study to Assess Efficacy, Safety and Tolerability of BMB-101 for the Treatment of Patients With Prader-Willi Syndrome.
The goal of this clinical trial is to evaluate the safety and effects of a new drug called BMB-101 in people with Prader-Willi Syndrome (PWS).
- Trial name
- NCT07266324
- Testing
- BMB-101
- Where
- 2 sites in Australia
- Volunteers
- 16 people
- Sponsor
- Bright Minds Biosciences Pty Ltd
Asthma in Children, Intellectual Disabilities (F70-F79)
Smart Inhaler and Remote Asthma Management in Adolescents With Intellectual and Developmental Disabilities
Correct use of daily medications containing inhaled corticosteroids is key for asthma control, yet children with intellectual and developmental disabilities (IDD) face additional barriers to proper inhaler use.
- Conditions
- Asthma in Children, Intellectual Disabilities (F70-F79), Developmental Disability, Autism Spectrum Disorder
- Trial name
- IDD (NCT07746921)
- Testing
- Use of active remote smart inhaler in the home setting, Use of passive remote smart inhaler in the home setting
- Where
- United States
- Volunteers
- 34 people
- Sponsor
- Children's Hospital Los Angeles
Prader-Willi Syndrome
Regulating Together for Prader-Willi Syndrome: A Group Behavioral Therapy for Emotion Dysregulation
The goal of this study is to help teens with Prader-Willi Syndrome (PWS) and their families learn practical strategies for managing issues like irritability, meltdowns, and anxiety.
- Trial name
- RT-PWS (NCT07607730)
- Testing
- Regulating Together group therapy
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Mercy Hospital Kansas City
Mother, Menstrual Hygiene Management
Menstrual Management Using a Mobile Application in Adolescent Girls With Mild Intellectual Disabilities
In the study conducted to determine the effectiveness of menstruation management training given with a mobile application (Bağımsız Yapabilirim) in female adolescents with mild intellectual disabilities in the independent living…
- Conditions
- Mother, Menstrual Hygiene Management, Hand Hygiene, Intellectual Disability, Mild
- Trial name
- Independent (NCT07016932)
- Testing
- Education with mobile application
- Where
- Turkey (Türkiye)
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- Selcuk University
Congenital Malformations
Contribution of Optical Genome Mapping (OGM) in the Diagnosis of Multiple Congenital Malformations With or Without Intellectual Disability Without Genetic Abnormality
Congenital malformations result from an embryonic or foetal developmental disorder (DD) affecting one or more systems (cardiac, skeletal, nervous, etc.). These are referred to as multiple congenital anomalies (MCAs).
- Trial name
- CARTOGEN-N (NCT07370792)
- Testing
- blood sample
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Céline PEBREL-RICHARD
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
Down Syndrome, Recurrent B Acute Lymphoblastic Leukemia
A Study to Compare Blinatumomab Alone to Blinatumomab With Nivolumab in Patients Diagnosed With First Relapse B-Cell Acute Lymphoblastic Leukemia (B-ALL)
This phase II trial studies the effect of nivolumab in combination with blinatumomab compared to blinatumomab alone in treating patients with B-cell acute lymphoblastic leukemia (B-ALL) that has come back (relapsed).
- Trial name
- NCT04546399
- Testing
- 3-Dimensional Conformal Radiation Therapy, Asparaginase Erwinia chrysanthemi, Biospecimen Collection
- Where
- 227 sites in United States, Australia and 2 more
- Volunteers
- 461 people
- Sponsor
- National Cancer Institute (NCI)
Rett Syndrome, Family Caregivers
Adapting a Psychosocial Support Intervention for the Rett Syndrome Community
This study seeks to adapt Caregiver Speaks, a psychosocial supportive intervention delivered through Facebook, for parent caregivers of children living with Rett Syndrome.
- Conditions
- Rett Syndrome, Family Caregivers, Social Support, Psychological Support
- Trial name
- NCT07730112
- Testing
- Those who have patients prescribed Daybue, Caregiver Speaks + Daybue
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Colorado State University
Down Syndrome
Effects of High Intensity Interval Training in Down Syndrome
Down Syndrome (DS), a genetic condition marked by the presence of an extra chromosome 21, is associated with various cognitive and physical challenges.
- Trial name
- NCT06777394
- Testing
- High intensity interval training, Routine treatmet
- Where
- Pakistan
- Volunteers
- 30 people
- Sponsor
- Riphah International University
B Acute Lymphoblastic Leukemia Associated With Down Syndrome, Down Syndrome
A Study to Learn More About the Health of Persons With Down Syndrome After Treatment for Acute Leukemia
This study attempts to learn more about the health of persons with Down syndrome after treatment for acute leukemia. Children with Down syndrome are at increased risk for side effects during treatment for acute leukemia, but it…
- Conditions
- B Acute Lymphoblastic Leukemia Associated With Down Syndrome, Down Syndrome, Myeloid Leukemia Associated With Down Syndrome
- Trial name
- NCT05702645
- Testing
- Biospecimen Collection, Clinical Evaluation, Neurocognitive Assessment
- Where
- 73 sites in United States, Canada
- Volunteers
- 330 people
- Sponsor
- Children's Oncology Group
Genetic Disease, STXBP1 Encephalopathy With Epilepsy
STXBP1 and SYNGAP1 Related Disorders Natural History Study
The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for clinical treatment trials.
- Conditions
- Genetic Disease, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability
- Trial name
- NCT06555965
- Testing
- Non-interventional study
- Where
- 5 sites in United States
- Volunteers
- 600 people
- Sponsor
- Children's Hospital of Philadelphia