Clinical trials: Intellectual Disabilities
Hunter Syndrome
Intensive Pharmacovigilance Program for Elaprase (SHP ELA-701)
The purpose of this non-interventional, observational study which is conducted in Mexico is to evaluate the safety profile of elaprase (idulsurfase) in participants with hunter syndrome (mucopolysaccharydosis II) being treated…
- Trial name
- NCT03582449
- Where
- 6 sites in Mexico
- Volunteers
- 5 people
- Sponsor
- Shire
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
Advanced or Metastatic Solid Tumors, Breast Cancer
A Study of PARG Inhibitor IDE161 in Participants With Advanced Solid Tumors
The purpose of this study is to characterize the safety, tolerability, and efficacy of IDE161 as a single agent and in combination with pembrolizumab.
- Conditions
- Advanced or Metastatic Solid Tumors, Breast Cancer, Ovarian Cancer, Prostate Cancer
- Trial name
- NCT05787587
- Testing
- IDE-161, Pembrolizumab
- Where
- 27 sites in United States
- Volunteers
- 216 people
- Sponsor
- IDEAYA Biosciences
Mucopolysaccharidosis II
Mucopolysaccharidosis Type II Observational
This is an observational study planned to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing…
- Trial name
- NCT04591834
- Testing
- Observational
- Where
- 3 sites in United States, Canada
- Sponsor
- REGENXBIO Inc.
Rett Syndrome, Rett Syndrome, Atypical
Rett Syndrome Registry
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome.
- Conditions
- Rett Syndrome, Rett Syndrome, Atypical, Genetic Disease, Genetic Diseases, X-Linked
- Trial name
- RSR (NCT05432349)
- Where
- 19 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- International Rett Syndrome Foundation
Prader-Willi Syndrome
Characterization of Serum Proteome in Subjects With Prader Willi Syndrome (PROTEOMARKER)
The lack of serum markers that can be used to identify the levels of steatosis in obese subjects, or that can indicate a rapid progression of the metabolic disease, in which it is very often difficult to perform analyzes with…
- Trial name
- PROTEOMARKER (NCT05761184)
- Testing
- Serum collection for proteomic analysis
- Where
- Italy
- Volunteers
- 52 people
- Sponsor
- Istituto Auxologico Italiano
Parents, Stress, Psychological
Internet-delivered ACT (I-Navigator ACT) for Parents of Children With Disabilities
The purpose of the project is to evaluate the feasibility, acceptability, and effectiveness of the internet-delivered Acceptance and Commitment Therapy treatment (I-Navigator ACT) for parents who experience stress, distress…
- Conditions
- Parents, Stress, Psychological, Anxiety, Depression
- Trial name
- NCT05940168
- Testing
- I-Navigator ACT, Navigator ACT group
- Where
- Sweden
- Volunteers
- 134 people
- Sponsor
- Karolinska Institutet
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
Physical Activity, Motor Skills Development
Feasibility and Acceptability of a Co-produced Intervention to Improve Physical Activity and Motor Competence Amongst Children With Intellectual Disabilities and/or Autism Spectrum Disorder: Movement Matters
The goal of this observational study is to find out whether an intervention designed to improve physical activity levels and movement skills is practical and acceptable for children aged 7-11 years with intellectual disabilities…
- Trial name
- MM (NCT07456514)
- Testing
- Movement Matters
- Where
- United Kingdom
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Liverpool John Moores 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
Down Syndrome
Gait Parameters of Persons With Down Syndrome With and Without Orthotics Using GaitRite
This is a research study of persons with Down Syndrome between 2 and 80 years old who are independently walking. The purpose of this study is to see what effect orthotics have on how people with Down Syndrome walk.
- Trial name
- NCT01390558
- Testing
- custom orthotics
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Oregon Health and Science University
Neurodevelopmental Disorders, Autism Spectrum Disorder
Patterns of Neurodevelopmental Disorders
The purpose of this study is to systematically evaluate the results of medical investigations to identify symptom and biological patterns and common etiologies of neurodevelopmental disorders.
- Conditions
- Neurodevelopmental Disorders, Autism Spectrum Disorder, Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection, Pediatric Acute-Onset Neuropsychiatric Syndrome
- Trial name
- NCT06213090
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Richard Frye
Fragile X Syndrome, Autism Spectrum Disorders
Acamprosate in Youth With Fragile X Syndrome
Fragile X syndrome (FXS) is the most common inherited form of developmental disability. FXS is inherited from the carrier parent, most often the mothers.
- Trial name
- NCT01300923
- Testing
- Acamprosate
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Indiana University
Gaucher's Disease
Effects of Enzyme Replacement in Gaucher's Disease
Gaucher disease is a lysosomal storage disease resulting from glycocerebroside accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase.
- Trial name
- NCT00001289
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Intellectual Disability
Targeted Next Generation Sequencing and Intellectual Disability
The purpose is to determine the benefit of next generation sequencing (NGS) targeted on genes involved in intellectual disability for etiologic diagnosis of intellectual disabilities.
- Trial name
- NGS-DI (NCT02889068)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 40 people
- Sponsor
- Central Hospital, Nancy, France
Prader-Willi Syndrome
Mitochondrial Complex I Dysfunction in PWS
Prader-Willi Syndrome (PWS) is characterized by profound infantile hypotonia, growth delay, cognitive impairment, muscle weakness and exercise intolerance.
- Trial name
- NCT03831425
- Testing
- Coenzyme Q10
- Where
- Canada
- Sponsor
- The Hospital for Sick Children
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.
Autism Spectrum Disorder, Fragile X Syndrome
Speech-in-noise Perception in Autism and Fragile X
The goal of this study is to identify which brain regions are active during speech-in-noise perception, as well as how those regions interact.
- Trial name
- NCT06088589
- Testing
- Mismatch negativity
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Prader-Willi Syndrome
Optimizing the Social Engagement System in Prader-Willi Syndrome: Insights From the Polyvagal Theory
The Polyvagal Theory focuses on how function and structure changed in the vertebrate autonomic nervous system during evolution. The theory is named for the vagus, a major cranial nerve that regulates bodily state.
- Trial name
- NCT03101826
- Testing
- Listening Project Protocol
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Indiana University
Rett Syndrome
Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome
Rett syndrome is a neurodevelopmental disorder characterized by cognitive impairment, communication dysfunction, stereotypic movement disorder, and growth failure.
- Trial name
- NCT00990691
- Testing
- Administration of a high dose of desipramine, Administration of a low dose of desipramine
- Where
- France
- Volunteers
- 36 people
- Sponsor
- Assistance Publique Hopitaux De Marseille