Clinical trials: Disabilities, Intellectual
Fragile X Syndrome
Biomarker and DNA Collection in Subjects Participating in Protocol 22003
The subjects that meet the inclusion and exclusion criteria and consent to participate in protocol 22003 will be offered participation in 22003A which will evaluate secreted protein before and after treatment with STX209 and…
- Trial name
- NCT00892580
- Testing
- STX209
- Where
- 8 sites in United States
- Volunteers
- 32 people
- Sponsor
- Seaside Therapeutics, Inc.
Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
Long-term Follow-up of Participants With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
This is a multi-center, long-term safety and efficacy follow-up study for participants with cerebral adrenoleukodystrophy (CALD) who have received Lenti-D Drug Product (eli-cel) in a parent clinical study (Study ALD-102 or Study…
- Conditions
- Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD), X-Linked Adrenoleukodystrophy (X-ALD)
- Trial name
- NCT02698579
- Testing
- No interventional drug product utilized in this follow-up study
- Where
- 13 sites in United States, Argentina and 7 more
- Volunteers
- 64 people
- Sponsor
- Genetix Biotherapeutics Inc.
Rett Syndrome
Study of ANAVEX2-73 in Patients With Rett Syndrome
Phase 2 safety, tolerability and efficacy study is designed as a double-blind, randomized, placebo-controlled study. 7-week placebo-controlled study of ANAVEX2-73 oral solution for the treatment of patients with RTT 18 years or…
- Trial name
- NCT03758924
- Testing
- ANAVEX2-73
- Where
- 8 sites in United States
- Volunteers
- 31 people
- Sponsor
- Anavex Life Sciences Corp.
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.
Fragile X Syndrome
Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)
The aim of this study is to characterize the pharmacokinetics and safety/tolerability of AFQ056 in children with Fragile X Syndrome(FXS)
- Trial name
- NCT01482143
- Testing
- AFQ056
- Where
- 4 sites in United States, Spain
- Volunteers
- 21 people
- Sponsor
- Novartis Pharmaceuticals
Prader-Willi Syndrome
A Study to Assess RAD011 (Cannabidiol Oral Solution) for the Treatment of Participants With Prader-Willi Syndrome
This was a study investigating RAD011 in participants diagnosed with Prader-Willi Syndrome (PWS). The primary objective of the Phase 2 part of this study was to assess the safety and tolerability of multiple dose levels of RAD011…
- Trial name
- NCT05098509
- Testing
- RAD011
- Where
- 8 sites in United States
- Volunteers
- 4 people
- Sponsor
- Radius Pharmaceuticals, Inc.
Metastatic Castration Resistant Prostate Cancer
A Study of Rucaparib in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency
The purpose of this study is to determine how patients with metastatic castration-resistant prostate cancer, and evidence of a homologous recombination gene deficiency, respond to treatment with rucaparib.
- Trial name
- TRITON2 (NCT02952534)
- Testing
- Rucaparib
- Where
- 149 sites in United States, Australia and 10 more
- Volunteers
- 277 people
- Sponsor
- pharmaand GmbH
Mucopolysaccharidosis II, MPS II
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
The purpose of the study is to evaluate the safety, tolerability and effect on leukocyte and plasma Iduronate 2-Sulfatase (IDS) enzyme activity of ascending doses of SB-913.
- Trial name
- NCT03041324
- Testing
- SB-913
- Where
- 5 sites in United States
- Volunteers
- 9 people
- Sponsor
- Sangamo Therapeutics
Trisomy 21 and Other Fetal Aneuploidy
Automated Screen for Fetal Aneuploidy
The purpose of this study is to develop and evaluate a blood test and automated microfluidic test platform for the prenatal screening of fetal aneuploidy.
- Trial name
- FAST1 (NCT03635359)
- Testing
- blood test
- Where
- 6 sites in Australia, Belgium and 4 more
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- BioCeryx
Down Syndrome, Aneuploidy
Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies
To collect samples for the purpose of developing and optimizing an in vitro noninvasive prenatal diagnostic (NIPD) test. The NIPD test employs circulating cell free (ccff) DNA extracted from whole blood samples collected from…
- Trial name
- CHARMM-AP (NCT01052688)
- Testing
- Maternal blood draw of 30 to 50ml
- Where
- 10 sites in United States
- Volunteers
- 150 people
- Sponsor
- Sequenom, Inc.
Cerebral Adrenoleukodystrophy (CALD)
A Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
The purpose of this study is to evaluate the efficacy and safety of Lenti-D Drug Product (also known as elivaldogene autotemcel or Skysona, hereafter referred to as eli-cel) after myeloablative conditioning with busulfan and…
- Trial name
- NCT03852498
- Testing
- Lenti-D
- Where
- 8 sites in United States, France and 4 more
- Volunteers
- 35 people
- Sponsor
- Genetix Biotherapeutics Inc.
Fragile x Syndrome
Ganaxolone Treatment in Children With Fragile X Syndrome
This Phase 2 proof-of-concept study is a double-blind, randomized, placebo-controlled, crossover study to investigate ganaxolone treatment in children with fragile x syndrome (FXS).
- Trial name
- NCT01725152
- Testing
- Ganaxolone
- Where
- 2 sites in United States, Belgium
- Volunteers
- 59 people
- Sponsor
- Marinus Pharmaceuticals
Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18)
Non-Invasive Determination of Fetal Chromosome Abnormalities
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome…
- Conditions
- Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Klinefelter Syndrome (47, XXY)
- Trial name
- NCT00891852
- Where
- 7 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Lenetix Medical Screening Laboratory
Hunter Syndrome
Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094
This extension study will allow participants that completed Study HGT-HIT-094 to continue receiving Elaprase treatment in conjunction with idursulfase IT or to continue receiving Elaprase treatment and begin concurrent IT…
- Trial name
- NCT02412787
- Testing
- Idursulfase-IT, Elaprase
- Where
- 9 sites in United States, Australia and 5 more
- Volunteers
- 56 people
- Sponsor
- Shire
Mucopolysaccharidosis II
Long-term Follow-Up for RGX-121
RGX-121-5101 is an observational long-term follow-up study to the RGX-121-101 or RGX-121-1102 studies where participants received RGX-121, a gene therapy intended to deliver a functional copy of the iduronate-2-sulfatase gene…
- Trial name
- NCT04597385
- Testing
- Long-term Follow-Up
- Where
- 4 sites in United States, Brazil
- Volunteers
- 27 people
- Sponsor
- REGENXBIO 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.
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
Rett Syndrome
Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
- Trial name
- ASPIRE (NCT07480564)
- Testing
- TSHA-102
- Where
- 3 sites in United States
- Volunteers
- 4 people
- Sponsor
- Taysha Gene Therapies, Inc.
Down Syndrome, Fetal Aneuploidy
Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies
Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.
- Trial name
- NCT01555346
- Where
- 29 sites in United States, Canada
- Volunteers
- 3,062 people
- Sponsor
- Sequenom, Inc.
Hunter Syndrome
Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment
Study HGT-HIT-094 is a multicenter study designed to determine the effect on clinical parameters of neurodevelopmental status of monthly IT administration of idursulfase-IT 10 mg for 12 months in pediatric patients with Hunter…
- Trial name
- AIM-IT (NCT02055118)
- Testing
- idursulfase-IT, No IT treatment
- Where
- 9 sites in United States, Australia and 5 more
- Volunteers
- 58 people
- Sponsor
- Shire