Clinical trials: Angelman Syndrome, open to volunteers
Silver Russell Syndrome, Beckwith-Wiedemann Syndrome
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of…
- Conditions
- Silver Russell Syndrome, Beckwith-Wiedemann Syndrome, Transient Neonatal Diabetes Mellitus, Angelman Syndrome
- Trial name
- IDMet (NCT05945576)
- Where
- 20 sites in France
- Volunteers
- 2,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Angelman Syndrome
CHAMPION: A Study to Evaluate the Efficacy and Safety of Obudanersen (ION582) in Children and Adults With Angelman Syndrome (AS)
The primary purpose of the study is to evaluate efficacy of obudanersen in participants with AS due to uniparental disomy or imprinting defects (UPD/ID) as measured through expressive communication.
- Trial name
- NCT07782827
- Testing
- obudanersen
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Angelman Syndrome
Angelman Syndrome Natural History Study
The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be…
- Trial name
- NCT04507997
- Where
- 11 sites in United States, Canada
- Volunteers
- 300 people
- Sponsor
- Boston Children's Hospital
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
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
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
Angelman Syndrome
The Global Angelman Syndrome Registry
The Global Angelman Syndrome Registry is an online patient organisation driven registry to collect information about the natural history of children and adults with Angelman Syndrome.
- Trial name
- GASR (NCT05293184)
- Testing
- Observational study only
- Where
- Australia
- Volunteers
- 5,000 people
- Sponsor
- Foundation for Angelman Syndrome Therapeutics, Australia
Epilepsy, Angelman Syndrome
Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy
Recent studies have shown that the aperiodic part of the signal (neuronal avalanches) of electroencephalography (EEG) contains important information about the dynamics of neuronal networks.
- Conditions
- Epilepsy, Angelman Syndrome, Dup15q Syndrome
- Trial name
- NCT06353620
- Testing
- High Density EEG recording, Rey Complex Figure Test
- Where
- Italy
- Volunteers
- 120 people
- Sponsor
- IRCCS Eugenio Medea
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.
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