Clinical trials: Angelman Syndrome
Angelman Syndrome
Clinical Trial of Levodopa/Carbidopa ( Sinemet) Therapy in Angel Man Syndrome
The purpose of this study is to evaluate the safety and effectiveness (how well a drug works) of Carbidopa/levodopa (Sinemet) in individuals with Angelman syndrome.
- Trial name
- NCT03235037
- Testing
- Levodopa
- Volunteers
- 10 people
- Sponsor
- Bennett Lavenstein
Angelman Syndrome
REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome
The purpose of this study is to evaluate the efficacy and safety of obudanersen in children and adults with Angelman syndrome caused by a deletion or mutation of the UBE3A gene.
- Trial name
- NCT06914609
- Testing
- obudanersen
- Where
- 41 sites in United States, Australia and 10 more
- Volunteers
- 156 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Angelman Syndrome
Nutritional Formulation for Angelman Syndrome
Low carbohydrate diets such as the ketogenic (KD) and low glycemic index (LGIT) diets have been shown to be effective in treating drug resistant seizures in children with Angelman syndrome (AS).
- Trial name
- FANS (NCT03644693)
- Testing
- Nutritional Formulation Containing Exogenous Ketones
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of Colorado, Denver
Angelman Syndrome
Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome
Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide.
- Trial name
- EYEANGEL (NCT06737718)
- Testing
- Eye tracking, Data collection from patients' medical files, questionnaires
- Where
- France
- Volunteers
- 60 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Angelman Syndrome
BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.
Purpose of the study is to evaluate the efficacy and safety of intrathecally administered rugonersen in pediatric and adult participants with Angelman syndrome.
- Trial name
- NCT07605429
- Testing
- rugonersen
- Where
- 6 sites in United States, Taiwan
- Volunteers
- 165 people
- Sponsor
- OHB Pediatrics Ltd.
Autism Spectrum Disorder
An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder
The investigators hypothesize that EPI-743 may provide clinical benefit to children with Autism Spectrum Disorder.
- Trial name
- Autism (NCT02226458)
- Testing
- EPI-743
- Sponsor
- Edison Pharmaceuticals Inc
Angelman Syndrome
Natural History Study for Patients With Angelman Syndrome
This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world).
- Trial name
- NatHisAngelman (NCT06229769)
- Where
- Belgium
- Volunteers
- 30 people
- Sponsor
- Centre Hospitalier Universitaire de Liege
Sleep Disorders
Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities
The purpose of this study is to establish the efficacy and safety of Circadin in children with neurodevelopmental disorders and to determine the dose, this randomized, placebo-controlled study is planned to evaluate the efficacy…
- Trial name
- NCT01906866
- Testing
- Circadin 2/5/10 mg
- Where
- 28 sites in United States, Finland and 3 more
- Volunteers
- 125 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
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.
Angelman Syndrome
An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome
This open-label study (OV101-18-002) will evaluate the long-term (52 weeks) safety of OV101 in subjects with AS and provide additional OV101 treatment to those subjects who completed Study OV101-15-001 (NCT02996305).
- Trial name
- ELARA (NCT03882918)
- Testing
- OV101
- Where
- 11 sites in United States, Israel
- Volunteers
- 141 people
- Sponsor
- Healx AI
Angelman Syndrome
A Phase 1/2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome
The purpose of this study is to evaluate the safety and efficacy of MVX-220 gene therapy in children and adults with Angelman syndrome with UBE3A gene deletion, uniparental disomy, or imprinting center defect genotypes.
- Trial name
- ASCEND-AS (NCT07181837)
- Testing
- MVX-220
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- MavriX Bio, LLC
Angelman Syndrome, Fragile X Syndrome
Single Dose Pharmacokinetic (PK) Study
The trial is a Phase 1 Single Dose PK Study in Adolescent Subjects with Fragile X syndrome (FXS) or Angelman syndrome (AS). The primary objective of the study is to evaluate the pharmacokinetics (PK) of OV101 following a single 5…
- Trial name
- NCT03109756
- Testing
- OV101
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Ovid Therapeutics Inc.
Angelman Syndrome
Angelman Syndrome Natural History Study-FAST UK
The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of Angelman syndrome (AS) in children and adults.
- Trial name
- NCT05100810
- Testing
- Natural History Study
- Where
- United Kingdom
- Volunteers
- 40 people
- Sponsor
- University of Oxford
Angelman Syndrome
Study on the Brain Network of Angelman Syndrome
The aims of study on Angelman syndrome: 1. Establish the Angelman syndrome database 2. Explore the brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data
- Trial name
- NCT03358823
- Where
- China
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Fudan University
Angelman Syndrome, Nervous System Diseases
Dietary Supplements for the Treatment of Angelman Syndrome
Angelman syndrome (AS) is a complex genetic disorder that affects the nervous system. The purpose of this study is to determine the effectiveness of certain dietary supplements in treating the symptoms of AS.
- Trial name
- NCT00348933
- Testing
- Betaine, Creatine, Metafolin
- Where
- 4 sites in United States
- Volunteers
- 90 people
- Sponsor
- University of California, San Diego
Angelman Syndrome
Characterization of Angelman Syndrome
Angelman Syndrome (AS) is a developmental disorder that is caused by a deficiency of a maternally transmitted gene. It is inherited at birth, and affects movement, speech, and social demeanor.
- Trial name
- NCT00296764
- Where
- 6 sites in United States
- Volunteers
- 302 people
- Sponsor
- Boston Children's Hospital
Angelman Syndrome
Long-term Extension of GTX-102 in Angelman Syndrome
The primary objective of the study is to evaluate the long-term safety profile of GTX-102 in participants with Angelman Syndrome (AS)
- Trial name
- NCT06415344
- Testing
- GTX-102
- Where
- 23 sites in United States, Australia and 6 more
- Volunteers
- 255 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Angelman Syndrome
A Study to Investigate the Safety, Tolerability, Pharmacokinetics (PK) and Pharmacodynamics (PD) of RO7248824 in Participants With Angelman Syndrome (AS)
This is a phase I, multicenter, non-randomized, adaptive, open-label, multiple ascending, intra-participant, dose-escalation study with a long-term extension (LTE) part and an optional open-label extension (OOE) part.
- Trial name
- NCT04428281
- Testing
- RO7248824
- Where
- 12 sites in United States, Italy and 2 more
- Volunteers
- 74 people
- Sponsor
- Hoffmann-La Roche
Angelman Syndrome, Neurodevelopmental Conditions
A Natural History Study of Angelman Syndrome
The goal of this observational study is to learn about the natural progression of Angelman syndrome (AS) in children and adults with a confirmed genetic diagnosis of AS.
- Trial name
- GLOW-AS (NCT07417137)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Massachusetts General Hospital