Clinical trials: Disabilities, Intellectual
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Fragile X Syndrome
A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107
The objectives of this study are to determine the safety and tolerability of single oral doses of STX107 and to determine basic pharmacokinetic (PK) parameters following single oral doses of STX107 when administered via an oral…
- Trial name
- NCT00965432
- Testing
- STX107
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Seaside Therapeutics, Inc.
Intellectual Disability, Developmental Delay
Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
The study uses a randomized controlled study design of pediatric neurologists and developmental pediatricians and front-line (primary care) pediatricians to determine if use of FirstStepDx PLUS and Next StepDx PLUS are associated…
- Trial name
- NCT02414438
- Testing
- FirstStepDX PLUS and NextStepDX PLUS Webinar, FirstStepDX PLUS and NextStepDX PLUS Test Results
- Where
- United States
- Volunteers
- 217 people, healthy volunteers welcome
- Sponsor
- Qure Healthcare, LLC
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.
Prader-Willi Syndrome
A Phase 3 Extension Study of RAD011 (Cannabidiol Oral Solution) in Patients With Prader-Willi Syndrome
This is a Phase 3 open-label extension (OLE) study in patients diagnosed with Prader-Willi Syndrome (PWS) who completed the Maintenance Period of the randomized, placebo-controlled Phase 2/3 study SCOUT-015.
- Trial name
- NCT05387798
- Testing
- RAD011
- Sponsor
- Radius Pharmaceuticals, Inc.
Intellectual Disability, Mild, Intellectual Disability, Mild to Moderate
PGx Medication Safety Reviews of Persons With IDD
The purpose of this study is to assess the feasibility of a comprehensive medication review and PGx initiative as part of the care process for individuals in the care of CP Unlimited.
- Conditions
- Intellectual Disability, Mild, Intellectual Disability, Mild to Moderate, Developmental Disability
- Trial name
- NCT07092852
- Testing
- Cheek swab for PGx testing, Medication safety review
- Where
- 2 sites in United States
- Volunteers
- 700 people
- Sponsor
- GalenusRx, Inc.
Mucopolysaccharidosis (MPS), Hunter Syndrome
Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
Hunter syndrome (Mucopolysaccharidosis II, [MPS II]) is a rare, genetically linked lysosomal storage disease (LSD) caused by deficiency of the enzyme, iduronate-2-sulfatase (I2S).
- Trial name
- NCT01822184
- Where
- 7 sites in United States, Argentina and 3 more
- Volunteers
- 100 people
- Sponsor
- Shire
Healthy Volunteer, Down Syndrome
A Molecular and Functional Brain Imaging Study in Individuals With Down Syndrome and Healthy Controls Following Single Dose RG1662
This single-center, single-blind, placebo-controlled, parallel-group study with crossover component will evaluate the GABAAalpha5 receptor expression, occupancy and functional connectivity in the brains of individuals with Down…
- Trial name
- NCT01667367
- Testing
- RG1662
- Where
- United Kingdom
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Hoffmann-La Roche
Hyperphagia, Prader-Willi Syndrome
The Hunger Elimination or Reduction Objective (HERO ) Open -Label Extension (OLE) Trial
The goal of this clinical trial is to learn if ARD-101 works to treat hyperphagia-related behavior in patients with Prader-Willi syndrome (PWS) when used in a long term setting. It will also teach us about the safety of ARD-101.
- Conditions
- Hyperphagia, Prader-Willi Syndrome, Hyperphagia in Prader-Willi Syndrome
- Trial name
- NCT07197034
- Testing
- ARD-101
- Where
- 30 sites in United States, Australia and 3 more
- Volunteers
- 19 people
- Sponsor
- Aardvark Therapeutics, Inc.
Mucopolysaccharidosis II
An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in MPS II (Hunter Syndrome) Subjects
An extension of Global Phase III open-label, multicenter designed to evaluate the Long-term safety and efficacy of study drug for the treatment of the MPS II.
- Trial name
- NCT05594992
- Testing
- JR-141
- Where
- 10 sites in United States, Argentina and 6 more
- Volunteers
- 80 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Vanishing Twin, Trisomy 21
Verification of Risk Assignment for Whole Chromosome Using SNP-based NIPT in Vanishing Twin Pregnancies
The purpose of this study is to collect blood samples from women carrying a vanishing twin pregnancy to further develop Natera's non-invasive prenatal screening test to provide information about possible chromosomal conditions…
- Conditions
- Vanishing Twin, Trisomy 21, Trisomy 13, Trisomy 18
- Trial name
- VANISH (NCT05004337)
- Where
- 21 sites in United States
- Volunteers
- 136 people
- Sponsor
- Natera, Inc.
Mental Retardation, Developmental Delay
Biomarker for Sanfilippo Type A-B-C-D Disease (BioSanfilippo)
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of Sanfilippo Disease Type A-B-C-D from blood (plasma)
- Trial name
- BioSanfilippo (NCT02298686)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Hunter Syndrome
The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients
The objective of this study is to evaluate the long term safety and efficacy of once weekly dosing of idurasulfase-beta 0.5mg/kg administered in Hunter Syndrome(Mucopolysaccharidosis II) Patients
- Trial name
- NCT02044692
- Where
- South Korea
- Volunteers
- 34 people
- Sponsor
- Green Cross Corporation
Alzheimer Disease, Down Syndrome
Hero: A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics (PK) and Pharmacodynamics (PD) of ION269 in Participants With Down Syndrome (DS) at Risk for Alzheimer's Disease (AD)
The primary purpose of this study is to evaluate the safety and tolerability of ION269 in adults with Down syndrome with evidence of brain amyloid positivity.
- Trial name
- NCT06673069
- Testing
- ION269
- Where
- 6 sites in United States, Spain
- Volunteers
- 1 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Down Syndrome
Phosphoproteomic Profile of Children With Down Syndrome
One of the major causes of cognitive disorders limiting the learning abilities of children with Down's syndrome is excess activity of the DYRK1A protein kinase, whose gene is located on chromosome 21.
- Trial name
- PEPS (NCT06279208)
- Testing
- Blood sample
- Where
- 9 sites in France
- Volunteers
- 60 people
- Sponsor
- Perha Pharmaceuticals
Rett Syndrome
A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)
The primary objectives of this study are to evaluate the safety of a single intrathecal (IT) dose of TSHA-102 in females with typical Rett syndrome, to select the TSHA-102 dose with the best benefit/risk profile based on the…
- Trial name
- NCT05606614
- Testing
- TSHA-102
- Where
- 9 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Taysha Gene Therapies, Inc.
Pediatric Obstructive Sleep Apnea, Down Syndrome (DS)
Pediatric Down Syndrome Post-Approval Study
The purpose of this Post Approval research study is to assess ongoing safety and effectiveness of the Inspire therapy in adolescents and young adults (age 13-18) with Down syndrome and severe sleep apnea.
- Trial name
- NCT06851338
- Testing
- Hypoglossal Nerve Stimulation
- Where
- 6 sites in United States
- Volunteers
- 60 people
- Sponsor
- Inspire Medical Systems, Inc.
Prader-Willi Syndrome
A Study of Oral ARD-101 in Patients With Prader-Willi Syndrome
A Phase 2, Single-Arm, Open-Label Study to Evaluate the Safety and Efficacy of ARD-101 in Patients with Prader-Willi Syndrome
- Trial name
- NCT05153434
- Testing
- ARD-101
- Where
- 2 sites in United States
- Volunteers
- 19 people
- Sponsor
- Aardvark Therapeutics, Inc.
Mucopolysaccharidosis II
A Study of JR-141 in Patients With Mucopolysaccharidosis Type II
The purpose of this study in patients with mucopolysaccharidosis type II (MPS II) is below, to collect the safety information of JR-141 to evaluate the plasma pharmacokinetics of JR-141 to explore the efficacy of JR-141 on MPS…
- Trial name
- NCT03128593
- Testing
- JR-141
- Where
- 8 sites in Japan
- Volunteers
- 14 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Trisomy 21, Trisomy 18
Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13)
This study will assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13. The results obtained from Vanadis NIPT will be compared with the study site's current prenatal screening methods.
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- NCT03559374
- Testing
- Vanadis NIPT system
- Where
- Italy
- Volunteers
- 1,200 people
- Sponsor
- PerkinElmer, Wallac Oy