Clinical trials: Intellectual Disability
Adrenoleukodystrophy
A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients.
This is a Phase II/III, randomized, double-blind, placebo-controlled, multicenter, two parallel-group study in male patients with the AMN phenotype of X-linked adrenoleukodystrophy (X-ALD) to assess the efficacy and safety of…
- Trial name
- Advance (NCT03231878)
- Testing
- MIN-102
- Where
- 10 sites in United States, France and 6 more
- Volunteers
- 105 people
- Sponsor
- Minoryx Therapeutics, S.L.
MECP2 Duplication Syndrome
A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)
Methyl-CpG binding protein 2 (MECP2) is a dosage-sensitive, X-linked gene critical for central nervous system development and functional maintenance, which gain-of-function causes MECP2 duplication syndrome (MDS).
- Trial name
- HERO (NCT06615206)
- Testing
- HG204
- Where
- China
- Volunteers
- 6 people
- Sponsor
- HuidaGene Therapeutics Co., Ltd.
ALD (Adrenoleukodystrophy)
Study to Assess PXL065 in Subjects With Adrenomyeloneuropathy (AMN) Form of X-linked Adrenoleukodystrophy (X-ALD or ALD)
A randomized open-label Phase 2a study to assess the pharmacokinetics and pharmacodynamic parameters of PXL065 after 12 weeks of treatment in male subjects with adrenomyeloneuropathy (AMN).
- Trial name
- NCT05200104
- Testing
- PXL065
- Sponsor
- Poxel SA
Down Syndrome
A Screening Protocol to Assess Adults and Adolescents With Down Syndrome for Eligibility For Upcoming Study of RG1662 (Study BP27832)
This is a single visit study in which people with Down syndrome aged 12-30 will attend the clinical center to undergo assessments to evaluate their eligibility for potential enrollment in the future BP27832 Phase II clinical…
- Trial name
- NCT01920633
- Where
- 22 sites in United States, Argentina and 5 more
- Volunteers
- 135 people
- Sponsor
- Hoffmann-La Roche
Mucopolysaccharidosis (MPS)
Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
Mucopolysaccharidosis (MPS) type II (MPS II; Hunter syndrome) is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S) and occurs almost exclusively in boys, with an incidence of…
- Trial name
- NCT02095015
- Where
- 14 sites in United States, Canada and 5 more
- Volunteers
- 159 people
- Sponsor
- Shire
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Fragile X Syndrome
Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome
This Phase IIb study is designed to assess whether 3 doses of AFQ056 are safe and effective in treating the behavioral symptoms of Fragile X Syndrome.
- Trial name
- NCT01253629
- Testing
- AFQ056
- Where
- 31 sites in United States, Australia and 8 more
- Volunteers
- 175 people
- Sponsor
- Novartis Pharmaceuticals
Aggressive Behavior in Fragile X Syndome
Inhibition of Aggressive Behavior in Participants With Fragile X Syndrome
The goal of this clinical trial is to learn if drug SRX246 works to treat irritability, agitation, aggression and self-injury (IAAS) behaviors in adult males with Fragile X Syndrome (FXS).
- Trial name
- NCT07328529
- Testing
- SRX246
- Where
- 3 sites in United States
- Volunteers
- 80 people
- Sponsor
- Azevan Pharmaceuticals
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
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.
Down Syndrome, Adaptive Behavior
Life Skills Improved in Children With Down Syndrome After Using Assistive Technology
Enhancing independence and quality of life are key modifiable outcomes that are short- and long-term goals for children with Down syndrome (DS) and for their parents.
- Conditions
- Down Syndrome, Adaptive Behavior, Quality of Life
- Trial name
- NCT05343468
- Testing
- The MapHabit System
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- MapHabit, Inc.
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
Prader-Willi Syndrome
Clinical Study of Diazoxide Choline Controlled-Release Tablet (DCCR) in Patients With Prader-Willi Syndrome
This is a single-center, open-label, single-arm study with a double-blind, placebo-controlled, randomized withdrawal extension. Patients are initiated on a DCCR dose of about 1.5 mg/kg (maximum starting dose of 145 mg) and are…
- Trial name
- NCT02034071
- Testing
- DCCR
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Essentialis, Inc.
Aneuploidy
National Prevalence and Impact of Noninvasive Prenatal Testing
Information on pregnant women undergoing non-invasive prenatal testing (NIPT) at one of the Obstetrix Medical Groups Outpatient Centers between January 2012 and June 2014 will be retrospectively gathered and an analysis of the…
- Trial name
- NCT02284399
- Testing
- non-invasive prenatal testing
- Where
- 7 sites in United States
- Volunteers
- 4,488 people, healthy volunteers welcome
- Sponsor
- Obstetrix Medical Group
AMN, AMN Gene Mutation
Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
The course of AMN-related disabilities over time is poorly or incompletely understood due to a limited number of patients and lack of treatments.
- Conditions
- AMN, AMN Gene Mutation, X-ALD
- Trial name
- CYGNET (NCT05008874)
- Testing
- Natural History Observation
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 65 people
- Sponsor
- SwanBio Therapeutics, Inc.
Down Syndrome
A 4-Week Safety Study of Oral ELND005 in Young Adults With Down Syndrome Without Dementia
This is a prospective, randomized, double-blind, placebo-controlled, parallel-group, three-arm, multicenter study of the safety and PK of ELND005 administered orally for 4 weeks.
- Trial name
- DS201 (NCT01791725)
- Testing
- ELND005
- Where
- 3 sites in United States
- Volunteers
- 23 people
- Sponsor
- OPKO Health, Inc.
Hunter Syndrome
An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment
This extension study of HGT-HIT-045 is designed to collect long-term safety data in pediatric participants with Hunter syndrome and cognitive impairment who are receiving intrathecal (IT) idursulfase-IT and intravenous (IV)…
- Trial name
- NCT01506141
- Testing
- Idursulfase-IT, Elaprase
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- Takeda
Trisomy 21
Non-invasive Chromosomal Examination of Trisomy Study
The purpose of this blinded, multi-center, prospective, case-controlled study is to compare the Ariosa Harmony™ Prenatal Test for trisomy 21 detection with a standard first-trimester prenatal screening test consisting of serum…
- Trial name
- NEXT (NCT01511458)
- Where
- 36 sites in United States, Belgium and 4 more
- Volunteers
- 18,955 people
- Sponsor
- Roche Sequencing Solutions
Hepato-splenomegaly, Dysostosis Multiplex
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood
- Conditions
- Hepato-splenomegaly, Dysostosis Multiplex, Seizures, Mental Retardation
- Trial name
- BioGM1/BioGM2 (NCT02298647)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
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.