Clinical trials: Intellectual Disability
Prader-Willi Syndrome
A Study of Pitolisant in Participants With Prader-Willi Syndrome
The purpose of this study is to assess safety of pitolisant in eligible participants with Prader-Willi syndrome (PWS) who completed the End of Treatment (EOT) visit in a parent study (HBS-101-CL-002 [Open Label Extension (OLE)]…
- Trial name
- NCT07219485
- Testing
- Pitolisant
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Harmony Biosciences Management, Inc.
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC
Down Syndrome, Obstructive Sleep Apnea
Effects of Hypoglossal Nerve Stimulation on Cognition and Language in Down Syndrome and Obstructive Sleep Apnea
This study is a prospective, single-arm study conducted under a common implant and follow-up protocol. The objective will be to follow fifty-seven (57) adolescents and young adults (10-21 years of age), with Down syndrome…
- Trial name
- NCT04801771
- Testing
- Inspire Upper Airway Stimulation (UAS) System
- Where
- 8 sites in United States
- Volunteers
- 57 people
- Sponsor
- Inspire Medical Systems, 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
Prader-Willi Syndrome
Study of the Efficacy and Safety of Somatropin in Japanese Participants With PWS
This is a multicenter, open label, multi cohort study to evaluate the efficacy and safety of somatropin in a cohort of Japanese participants with PWS.
- Trial name
- NCT04697381
- Testing
- somatropin - GH naïve pediatric cohort, somatropin - GH treated cohort, somatropin - adult cohort
- Where
- 5 sites in Japan
- Volunteers
- 33 people
- Sponsor
- Pfizer
Down Syndrome
Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (HCl) (Aricept) In Treating Cognitive Dysfunction Exhibited By Children With Down Syndrome
The purpose of this study is to determine whether donepezil HCl is effective and safe in improving cognitive dysfunction exhibited by children and adolescents with Down syndrome (DS).
- Trial name
- NCT00570128
- Testing
- Donepezil HCl
- Where
- 31 sites in United States
- Volunteers
- 129 people
- Sponsor
- Eisai Inc.
Rett Syndrome
ANAVEX2-73 Study in Pediatric Patients With Rett Syndrome
ANAVEX2-73-RS-003 is a Phase 2/3, double-blind, randomized, placebo-controlled dose escalation safety, tolerability and efficacy study in patients 5-17 years of age with RTT using endpoints including multiple clinical and…
- Trial name
- EXCELLENCE (NCT04304482)
- Testing
- ANAVEX2-73 oral liquid
- Where
- 12 sites in Australia, Canada and 1 more
- Volunteers
- 92 people
- Sponsor
- Anavex Life Sciences Corp.
Prader-Willi Syndrome
A 5 Treatment Period Pharmacokinetic Study Evaluating Dose Proportionality and Food Effects of Diazoxide Choline Controlled-Release Tablet (DCCR)
Open label, parallel-group, single site, 5 treatment-period study with 4 dose levels of DCCR, 1 of which is administered both with and without food.
- Trial name
- NCT02893618
- Testing
- Diazoxide choline controlled-release tablet
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Essentialis, Inc.
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.
Hunter Syndrome, Mucopolysaccharidosis II (MPS II)
Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase
Study TKT024EXT was a long-term, single-arm, open-label extension of Study TKT024, a one year Phase 2/Phase 3 registration study.
- Trial name
- NCT00630747
- Testing
- Idursulfase
- Where
- 52 sites in United States, Brazil and 8 more
- Volunteers
- 94 people
- Sponsor
- Shire
Sanfilippo Syndrome
Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
Sanfilippo syndrome Type A, or Mucopolysaccharidosis (MPS) IIIA, is a rare lysosomal storage disease caused by deficiency of the enzyme heparan N-sulfatase (sulfamidase).
- Trial name
- NCT02060526
- Testing
- Recombinant human heparan N-sulfatase [rhHNS]
- Where
- 10 sites in United States, Argentina and 6 more
- Volunteers
- 21 people
- Sponsor
- Shire
Down Syndrome
Phase 1/2 Trial of AEF0217 in Participants With Down Syndrome
AEF0217-102 clinical trial assesses the safety, tolerability, plasma exposure and preliminary indications of pharmacodynamic activity of AEF0217 in female and male adult participants with Down syndrome between 18 and 35 years…
- Trial name
- MDDS (NCT05748405)
- Testing
- AEF0217
- Where
- 3 sites in Spain
- Volunteers
- 40 people
- Sponsor
- Aelis Farma
Fragile X Syndrome
Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)
This study is a multicenter, double-blind, randomized, placebo-controlled study to assess the safety and tolerability of 3 doses of MRM-3379 in male participants with Fragile X Syndrome ages 16 to 45 (inclusive).
- Trial name
- NCT07209462
- Testing
- Low dose of MRM-3379, Middle Dose of MRM-3379, High dose of MRM-3379
- Where
- 18 sites in United States, Spain
- Volunteers
- 60 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Fragile X Syndrome, FXS
A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome
This is a single-center, randomized, double-blind, 2-period crossover study to explore the effects of BPN14770 on cognitive function and behavior in subjects with Fragile X Syndrome.
- Conditions
- Fragile X Syndrome, FXS, Fra(X) Syndrome
- Trial name
- NCT03569631
- Testing
- BPN14770
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Tetra Discovery Partners
Fragile X Syndrome
Study of SPG601 in Adult Men With Fragile X Syndrome
This Phase 2 study described herein will evaluate the safety, efficacy, tolerability, pharmacokinetics and pharmacodynamics of SPG601 in adult men with Fragile X syndrome.
- Trial name
- NCT06413537
- Testing
- SPG601
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Spinogenix
Prader-Willi Syndrome
Phase 3 Study of Intranasal Carbetocin (LV-101) in Patients With Prader-Willi Syndrome
This Phase 3 study is designed to test the effectiveness of intranasal carbetocin (LV-101) in participants with Prader-Willi syndrome (PWS). Carbetocin is an oxytocin analog (a man-made chemical that is like oxytocin).
- Trial name
- CARE-PWS (NCT03649477)
- Testing
- 3.2 mg intranasal carbetocin, 9.6 mg intranasal carbetocin
- Where
- 24 sites in United States, Australia and 1 more
- Volunteers
- 130 people
- Sponsor
- Levo Therapeutics, Inc.
Rett Syndrome
To Study the Efficacy & Safety of Oral NA-921 (Bionetide) in Girls and Women with Rett Syndrome
To study the efficacy \& safety of oral Bionetide versus placebo in girls and women with Rett syndrome
- Trial name
- NCT06849973
- Testing
- Drug: Bionetide
- Where
- 16 sites in United States, Australia
- Volunteers
- 187 people
- Sponsor
- Biomed Industries, Inc.
Rett Syndrome
Open-Label Extension Study of Trofinetide for Rett Syndrome
To investigate the safety and tolerability of continued long-term treatment with oral trofinetide in girls and women with Rett syndrome
- Trial name
- NCT04776746
- Testing
- trofinetide
- Where
- 21 sites in United States
- Volunteers
- 77 people
- Sponsor
- ACADIA Pharmaceuticals Inc.
Down Syndrome
Safety, Tolerability and Immunogenicity of ACI-24 Vaccine in Adults With Down Syndrome
The purpose of this study is to test in adults with Down Syndrome the safety, tolerability and immunogenicity of a vaccine, ACI-24.
- Trial name
- 3-Star (NCT02738450)
- Testing
- ACI-24 low dose, ACI-24 high dose
- Where
- 4 sites in United States
- Volunteers
- 20 people
- Sponsor
- AC Immune SA
Mucopolysaccharidosis II
Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS II
Phase 1, open-label, sequential ascending dose-escalation study. Designed to evaluate the safety and efficacy of a single IV infusion of investigational gene therapy HMI-203.
- Trial name
- NCT05238324
- Testing
- Genetic HMI-203
- Where
- 6 sites in United States, Canada
- Sponsor
- Homology Medicines, Inc