Clinical trials: Intellectual Developmental Disorder
X-Linked Adrenoleukodystrophy
A Study to Prospectively Assess Disease Progression in Male Children With X-ALD
This is a non-interventional, multi-center study that follows general principles of periodic assessment of X-ALD patients in routine practice.
- Trial name
- NCT03278899
- Where
- 3 sites in United States
- Volunteers
- 100 people
- Sponsor
- NeuroVia, Inc.
Prader-Willi Syndrome
A Study of Pitolisant in Patients With Prader-Willi Syndrome
This is a Phase 3, randomized, double-blind, placebo-controlled, multicenter, global clinical study to assess the efficacy and safety of pitolisant in patients living with Prader-Willi syndrome.
- Trial name
- NCT06366464
- Testing
- Pitolisant tablet
- Where
- 57 sites in United States, Australia and 11 more
- Volunteers
- 134 people
- Sponsor
- Harmony Biosciences Management, Inc.
Prader-Willi Syndrome
Cannabidiol Oral Solution for the Treatment of Patients With Prader-Willi Syndrome
The primary objective of this study is to assess the efficacy of cannabidiol oral solution on hyperphagia-related behavior in patients with Prader-Willi Syndrome (PWS).
- Trial name
- NCT02844933
- Testing
- Cannabidiol
- Where
- 7 sites in United States
- Volunteers
- 7 people
- Sponsor
- Radius Pharmaceuticals, Inc.
Fragile X Syndrome
Open Label Study Investigating Safety and Efficacy of NPL2009 50 mg - 150 mg on Prepulse Inhibition Tests and Continuous Performance Tasks, Adults With Fragile X Syndrome
This is an open label exploratory study to investigate the safety and effects of a single dose of NPL-2009(50 mg - 150 mg) on Prepulse Inhibition (PPI) Tests and Continuous Performance Tasks (CPT) in adults with Fragile X Syndrome
- Trial name
- NCT00637221
- Testing
- NPL-2009
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Neuropharm
Fragile X Syndrome
Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome
To explore the efficacy, safety and tolerability of STX209 (arbaclofen) administered for the treatment of social withdrawal in adolescents and adults with fragile X syndrome (FXS)
- Trial name
- Harbor-A (NCT01282268)
- Testing
- arbaclofen
- Where
- 24 sites in United States
- Volunteers
- 125 people
- Sponsor
- Seaside Therapeutics, 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
Chronic Troublesome Sialorrhea, Cerebral Palsy
Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
The objective of this study is to investigate the efficacy and safety of NT 201 compared with placebo for the treatment of chronic troublesome sialorrhea associated with neurological disorders (e.g.
- Conditions
- Chronic Troublesome Sialorrhea, Cerebral Palsy, Stroke, Traumatic Brain Injury
- Trial name
- SIPEXI (NCT02270736)
- Testing
- NT 201
- Where
- 31 sites in Georgia, Hungary and 4 more
- Volunteers
- 256 people
- Sponsor
- Merz Pharmaceuticals GmbH
Fragile X Syndrome (FXS)
A Study of OV101 in Individuals With Fragile X Syndrome
The purpose of this study is to assess the safety, tolerability and efficacy of oral OV101 (gaboxadol) in subjects with Fragile X syndrome.
- Trial name
- ROCKET (NCT03697161)
- Testing
- OV101 (gaboxadol)
- Where
- 6 sites in United States
- Volunteers
- 36 people
- Sponsor
- Ovid Therapeutics Inc.
Microdeletion Syndromes, Trisomy 21
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on…
- Conditions
- Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- Microdel Triad (NCT02109770)
- Where
- 2 sites in United States
- Volunteers
- 216 people
- Sponsor
- Natera, Inc.
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.
Hemophilia B, Mucopolysaccharidosis I
Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX
Long-term follow-up of subjects who received SB-318, SB-913, or SB-FIX in a previous trial and completed at least 52 weeks post-infusion follow-up in their primary protocol.
- Conditions
- Hemophilia B, Mucopolysaccharidosis I, Mucopolysaccharidosis II
- Trial name
- LTFU (NCT04628871)
- Testing
- SB-318, SB-913, SB-FIX
- Where
- 5 sites in United States
- Volunteers
- 13 people
- Sponsor
- Sangamo Therapeutics
Fragile X Syndrome
Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS
ZYN002 is a pharmaceutically manufactured Cannabidiol that is developed as a clear gel that can be applied to the skin (called transdermal delivery).
- Trial name
- NCT03802799
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 26 sites in United States, Australia and 2 more
- Volunteers
- 476 people
- Sponsor
- Zynerba Pharmaceuticals, 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.
Genetic Disorder, Prader-Willi Syndrome
Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers
This trial is conducted in United States of America (USA). The aim of this trial is to examine the bioequivalence of Norditropin® versus Genotropin® in healthy adult volunteers.
- Conditions
- Genetic Disorder, Prader-Willi Syndrome, Growth Disorder, Idiopathic Short Stature
- Trial name
- NCT01401244
- Testing
- somatropin
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Novo Nordisk A/S
Pregnant Women, Prenatal Care
MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy
The primary objective of this study is to determine the performance characteristics (sensitivity and specificity) of the Verinata Health Test to detect fetal Trisomy 21 (T21) compared to karyotype results obtained by…
- Trial name
- MELISSA (NCT01122524)
- Where
- 11 sites in United States
- Volunteers
- 10,000 people
- Sponsor
- Verinata Health, Inc.
MPS II, Hunter Syndrome (MPS II)
An Extension Study to Assess the Long-term Safety and Efficacy of Hunterase (Idursulfase Beta)
The objective of this study is to assess the long-term safety and efficacy of Hunterase for approximately 1 year in subjects who completed the end of study (EOS) visit (Visit 54) tests in the Phase 3 Hunterase study and patients…
- Conditions
- MPS II, Hunter Syndrome (MPS II), Hunter Syndrome, Hunterase
- Trial name
- NCT07344376
- Testing
- Hunterase
- Where
- South Korea
- Volunteers
- 30 people
- Sponsor
- GC Biopharma Corp
Mucopolysaccharidosis Type II, Metabolic Diseases
A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
It is a phase I open-label single-dose, dose-escalation cohort study to evaluate of the tolerance, safety, and pharmacokinetics of GNR-055 in healthy volunteers
- Trial name
- NCT04539340
- Testing
- GNR-055
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- AO GENERIUM
Mucopolysaccharidosis II
An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007
This is a multiregional open-label extension (OLE) to assess the safety, tolerability, and efficacy of long-term treatment with tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant intravenous…
- Trial name
- NCT06075537
- Testing
- tividenofusp alfa
- Where
- 30 sites in United States, Argentina and 12 more
- Volunteers
- 99 people
- Sponsor
- Denali Therapeutics Inc.
Aneuploidy, Trisomy 21
Non-Invasive Chromosomal Evaluation of Trisomy Study
This study is being conducted to provide clinically annotated samples to support continued improvements in the Ariosa Test content, methodology, specimen processing and quality control.
- Conditions
- Aneuploidy, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- NICHE (NCT02201862)
- Where
- 3 sites in United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
Down Syndrome, Edwards Syndrome
Non-Invasive Screening for Fetal Aneuploidy
The purpose of this study is to determine if a laboratory test developed by the Sequenom Center for Molecular Medicine (SCMM) that uses a new marker found in the mother's blood can better identify pregnancies that have a child…
- Trial name
- NCT00847990
- Testing
- Maternal blood screening test for fetal aneuploidy
- Where
- 25 sites in United States
- Volunteers
- 5,000 people
- Sponsor
- Sequenom, Inc.