Clinical trials: Intellectual Disabilities
Fragile X Syndrome
Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)
The purpose of this study is to generate long-term safety, tolerability and efficacy data for AFQ056 in eligible adolescent patients with FXS who have participated in the CAFQ056B2214 study, the PK study CAFQ056B2131, or another…
- Trial name
- NCT01433354
- Testing
- AFQ056
- Where
- 28 sites in United States, Australia and 11 more
- Volunteers
- 119 people
- Sponsor
- Novartis Pharmaceuticals
Fragile X Syndrome
A Study of RO4917523 in Patients With Fragile X Syndrome
This multi-center, randomized, double-blind, placebo-controlled, parallel-group study will investigate the efficacy and safety of RO4917523 in adolescent and adult patients with fragile X syndrome.
- Trial name
- NCT01517698
- Testing
- RO4917523 0.5 mg, RO4917523 1.5 mg
- Where
- 51 sites in United States, Argentina and 8 more
- Volunteers
- 185 people
- Sponsor
- Hoffmann-La Roche
Infertility, Miscarriage
Preimplantation Genetic Diagnosis (PGD) by Array Comparative Genome Hybridization (CGH) and Blastocyst Biopsy
This study evaluates the effect of single embryo transfer (SET) with and without array CGH for the evaluation of the complete chromosome complement of the blastocyst. Patients will be allocated at random into two groups.
- Trial name
- NCT01332643
- Testing
- Preimplantation Genetic Diagnosis
- Where
- Peru
- Volunteers
- 120 people
- Sponsor
- Reprogenetics
Rett Syndrome
Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms
This study evaluates the safety, tolerability and efficacy of Sarizotan in reducing respiratory abnormalities in Rett Syndrome in an initial double blind 24 week period followed by an open label treatment phase of up to 168 weeks…
- Trial name
- STARS (NCT02790034)
- Testing
- Sarizotan low dose, Sarizotan high dose
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 129 people
- Sponsor
- Newron Pharmaceuticals SPA
Prader-Willi Syndrome
PWS Outcomes Assessment Study
This is a longitudinal study during which qualitative interviews will be conducted with caregivers of Soleno C601/C602 study subjects.
- Trial name
- NCT04102839
- Testing
- Interview
- Where
- United States
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- Soleno Therapeutics, Inc.
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
Infantile Refsum's Disease, Zellweger Syndrome
Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
OBJECTIVES: I. To Evaluate the therapeutic efficacy of cholic acid during provision of compassionate treatment to patients with identified inborn errors of bile acid synthesis and metabolism II.
- Conditions
- Infantile Refsum's Disease, Zellweger Syndrome, Adrenoleukodystrophy, Peroxisomal Disorders
- Trial name
- NCT00007020
- Testing
- Cholic Acids
- Where
- United States
- Volunteers
- 85 people
- Sponsor
- Mirum Pharmaceuticals, 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
Hunter Syndrome
An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients
The objective of this study is to evaluate the effect of anti-idursulfase antibodies on idursulfase safety (measured by infusion related adverse events) between patients who develop anti-idursulfase antibodies and patients who do…
- Trial name
- NCT00882921
- Testing
- Idursulfase
- Where
- 6 sites in United States, Brazil and 1 more
- Volunteers
- 26 people
- Sponsor
- Shire
Down Syndrome
A Study of ACI-24 in Adults With Down Syndrome
This study is a prospective multicenter, placebo-controlled, double-blind, randomized study to assess the effect of one dose ACI-24 versus placebo over a 74-week treatment period and 26-week safety follow-up period.
- Trial name
- NCT04373616
- Testing
- ACI-24
- Sponsor
- AC Immune SA
Aneuploidy, Trisomy 21
Prenatal Test for Fetal Aneuploidy Detection
The purpose of this study is to develop and evaluate a blood test for pregnant women for detection of fetal aneuploidy.
- Trial name
- NCT01256606
- Where
- 6 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Roche Sequencing Solutions
Rett Syndrome
Open-Label Extension Study of Trofinetide for the Treatment of Girls and Women With Rett Syndrome
To investigate the safety and tolerability of long-term treatment with oral trofinetide in girls and women with Rett syndrome
- Trial name
- LILAC™ (NCT04279314)
- Testing
- Trofinetide
- Where
- 21 sites in United States
- Volunteers
- 154 people
- Sponsor
- ACADIA Pharmaceuticals Inc.
Mucopolysaccharidosis II
Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)
The purpose of this study is to determine whether the administration of iduronate-2-sulfatase enzyme in a weekly or every other week therapy frequency is safe and efficacious in patients with MPS II.
- Trial name
- NCT00069641
- Testing
- Iduronate-2-sulfatase enzyme replacement therapy
- Where
- 9 sites in United States, Brazil and 2 more
- Volunteers
- 96 people
- Sponsor
- Shire
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
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.
Prader-Willi Syndrome
An Open-Label Study of Oral NNZ-2591 in Prader-Willi Syndrome (PWS-001)
A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Prader-Willi Syndrome.
- Trial name
- PWS-001 (NCT05879614)
- Testing
- NNZ-2591
- Where
- 4 sites in United States
- Sponsor
- Neuren Pharmaceuticals Limited
Down Syndrome-Associated Alzheimer's Disease (DS-AD)
A Study to Evaluate Mivelsiran in Adult Participants With Early-Stage Down Syndrome-Associated Alzheimer's Disease (DS-AD)
The purpose of the study is to evaluate the effect of mivelsiran in adult participants with early-stage DS-AD and to characterize the safety, tolerability, and pharmacodynamics (PD) of mivelsiran.
- Trial name
- NCT07636811
- Testing
- Mivelsiran
- Where
- 10 sites in United States, Spain
- Volunteers
- 58 people
- Sponsor
- Alnylam Pharmaceuticals
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.
Fragile X Syndrome
Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX)
This trial will evaluate the efficacy and safety of ZYN002, a clear cannabidiol gel that can be applied to the skin (called transdermal application) twice a day for the treatment of behavioral symptoms of Fragile X Syndrome…
- Trial name
- CONNECT-FX (NCT03614663)
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 21 sites in United States, Australia and 1 more
- Volunteers
- 212 people
- Sponsor
- Zynerba Pharmaceuticals, Inc.
Hunter Syndrome
A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®
Elaprase (idursulfase), a large molecular protein, is not expected to cross the blood brain barrier at therapeutic levels when administered intravenously.
- Trial name
- NCT00920647
- Testing
- Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Shire