Clinical trials: Mental Retardation
Inherited Metabolic Diseases, Lysosomal Storage Disorders
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease.
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism
- Trial name
- UCBT-002 (NCT00654433)
- Testing
- ALD-101
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- Aldagen
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
Adrenomyeloneuropathy, Adrenoleukodystrophy
MD1003-AMN MD1003 in Adrenomyeloneuropathy
The primary objective of the trial is to demonstrate the superiority of biotin at 300 mg/day over placebo in the clinical improvement (walking tests) of patients with adrenomyeloneuropathy
- Conditions
- Adrenomyeloneuropathy, Adrenoleukodystrophy, AMN
- Trial name
- NCT02961803
- Testing
- MD1003 100 mg capsule
- Where
- 4 sites in France, Germany and 1 more
- Volunteers
- 67 people
- Sponsor
- MedDay Pharmaceuticals SA
Fragile X Syndrome
An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome
Study 22001, "A Double-Blind, Placebo-Controlled, Flexible-Dose Evaluation of the Efficacy, Safety, and Tolerability of STX209 in the Treatment of Irritability in Subjects with Fragile X Syndrome" currently is evaluating the…
- Trial name
- NCT01013480
- Testing
- Arbaclofen
- Where
- 9 sites in United States
- Volunteers
- 45 people
- Sponsor
- Seaside Therapeutics, Inc.
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
Prader-Willi Syndrome
A Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Participants With Prader-Willi Syndrome
The objective of this study is to assess the long-term safety and tolerability of Cannabidiol Oral Solution (CBD) in participants with Prader-Willi Syndrome.
- Trial name
- NCT03458416
- Testing
- Cannabidiol Oral Solution
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Radius Pharmaceuticals, Inc.
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.
Mucopolysaccharidosis II
Mucopolysaccharidosis Type II Natural History
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is caused by a deficiency of iduronate-2-sulfatase (IDS) leading to an accumulation of glycosaminoglycans (GAGs) in tissues of MPS II patients, resulting in…
- Trial name
- NCT03529786
- Where
- 3 sites in United States, Brazil and 1 more
- Volunteers
- 36 people
- Sponsor
- REGENXBIO Inc.
Rett Syndrome
Assessing the Safety and Efficacy of Full-Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) in the Treatment of Rett Syndrome (RTT)
This 18-week open-label study examines the effectiveness of Full-Spectrum Medicinal Cannabis Plant Extract containing 0.08% THC (NTI164) in treating Rett syndrome (RTT) in children and young people.
- Trial name
- NCT06621043
- Testing
- NTI164
- Where
- Australia
- Volunteers
- 14 people
- Sponsor
- Fenix Innovation Group
Mucopolysaccharidosis (MPS), Hunter Syndrome
Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
Hunter syndrome (Mucopolysaccharidosis II, [MPS II]) is a rare, genetically linked lysosomal storage disease (LSD) caused by deficiency of the enzyme, iduronate-2-sulfatase (I2S).
- Trial name
- NCT01822184
- Where
- 7 sites in United States, Argentina and 3 more
- Volunteers
- 100 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
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.
Prader-Willi Syndrome
Study of Tesomet With Open-label Extension in Subjects With Prader-Willi Syndrome
This study will evaluate the safety and efficacy of Tesomet (tesofensine + metoprolol) in subjects with PWS.
- Trial name
- PWS (NCT05198362)
- Testing
- Tesomet
- Where
- United States
- Sponsor
- Saniona
DCild Development Disorders, Pervasive, Autistic Disorder
A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD)
The purpose of the study is to evaluate the effectiveness of an oral solution of risperidone (an antipsychotic medication) versus placebo in the treatment of behavioral symptoms in children with Pervasive Developmental Disorders…
- Conditions
- DCild Development Disorders, Pervasive, Autistic Disorder, Developmental Disabilities, Asperger Syndrome
- Trial name
- NCT00261508
- Testing
- risperidone
- Volunteers
- 80 people
- Sponsor
- Janssen-Ortho Inc., Canada
ASD
Mental Imagery Therapy for Autism (MITA) - an Early Intervention Computerized Language Training Program for Children With Autism
Mental Imagery Therapy for Autism (MITA) is a highly innovative adaptive language therapy application for children with autism. MITA exercises are limitless in variations, therefore avoiding routinization.
- Trial name
- MITA-RCT (NCT07326423)
- Testing
- Mental Imagery Therapy for Autism (MITA), General executive function
- Where
- Brazil
- Volunteers
- 60 people
- Sponsor
- ImagiRation, LLC
Pregnant Individuals, Aneuploidy
The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
The goal of the ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) study is to compare the concordance of results of a novel non-invasive circulating fetal cell (CFC) assay to the results of…
- Conditions
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome
- Trial name
- ADVANCE (NCT07643896)
- Where
- 9 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- BillionToOne Inc.
Fragile X Syndrome
Investigation of Sulindac (HLX-0201) and Gaboxadol (HLX-0206) in Male Fragile X Syndrome Patients Aged 13-40
This study is to investigate the safety, tolerability and efficacy of Sulindac (HLX-0201) and Gaboxadol (HLX-0206) in males with Fragile X Syndrome (FXS) with confirmed full FMR1 mutation treated over a 10 week period in an…
- Trial name
- IMPACT-FXS (NCT04823052)
- Testing
- Sulindac (HLX-0201), dose strength 1, Sulindac (HLX-0201), dose strength 2, Gaboxadol (HLX-0206)
- Where
- 10 sites in United States, Australia
- Sponsor
- Healx Limited
Genetic Disorder, Prader-Willi Syndrome
Retrospective Observational Study on Efficacy and Safety of Norditropin® in Children With Prader-Willi Syndrome
This study is conducted in Europe. The aim of this observational study is to collect data from children with Prader-Willi Syndrome, who have been treated off-label with Norditropin® for more than 12 months to seek approval for…
- Trial name
- NCT00705172
- Testing
- somatropin
- Where
- 3 sites in Denmark, Germany and 1 more
- Volunteers
- 41 people
- Sponsor
- Novo Nordisk A/S
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
Fragile X Syndrome (FXS), Autism Spectrum Disorder (ASD)
A Study to Investigate the Effects and Safety of Codabakalner for the Treatment of FXS in Male Participants and Adult Participants With ADS
This is a Study to Investigate the Effects and Safety of Codabakalner for the Treatment of Fragile X Syndrome in Male Participants and Adult Participants with Autism Spectrum Disorders
- Trial name
- NCT07439510
- Testing
- Codabakalner
- Volunteers
- 120 people
- Sponsor
- Spinogenix