Clinical trials: Angelman Syndrome
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
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.
Angelman Syndrome
Minocycline in the Treatment of Angelman Syndrome
There is mounting evidence to suggest that a treatment for Angelman syndrome is not just possible, but probable. The lack of known molecular targets associated with AS has hampered the development of specific therapeutics.
- Trial name
- NCT01531582
- Testing
- minocycline
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University of South Florida
Angelman Syndrome
Italian Angelman Syndrome Registry
The Italian Angelman Registry is a national registry for patients with Angelman Syndrome. No experimental intervention is involved in participation.
- Trial name
- RISA (NCT03650569)
- Where
- Italy
- Volunteers
- 82 people
- Sponsor
- FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS
Angelman Syndrome
Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome
This study is designed to determine the highest dose of levodopa/carbidopa that can be tolerated without any serious side effects by children with Angelman syndrome.
- Trial name
- NCT00829439
- Testing
- Levodopa/Carbidopa (4:1)
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Boston Children's Hospital
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
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
Expanded Access/Compassionate Use of Rugonersen in Patients With Angelman Syndrome
For a patient to be considered for this EAP, they must have consented to participate in the TANGELO Optional Open-label Extension (OOE), and continue to meet the inclusion/ exclusion criteria and have not received any other…
- Trial name
- NCT07136454
- Testing
- Rugonersen
- Sponsor
- Oak Hill Bio Ltd
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
- 66 people
- Sponsor
- Ultragenyx Pharmaceutical 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, Prader-Willi Syndrome
Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome
The overall purpose of this project is to establish the capability of screening for Angelman syndrome (AS) and Prader-Willi syndrome (PWS) in public health newborn screening (NBS) programs, with an aim of developing and…
- Trial name
- NCT05783791
- Testing
- Newborn Screening Assay
- Where
- United States
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Madison
Angelman Syndrome
Study of the Prevalence of Autistic Traits in Angelman Syndrome
The goal of this observational cross-sectional study is to establish the prevalence of autism spectrum disorder in children and adolescents with Angelman syndrome.
- Trial name
- NCT06337383
- Where
- Italy
- Volunteers
- 46 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
- 10 sites in United States, South Korea and 1 more
- Volunteers
- 165 people
- Sponsor
- OHB Pediatrics Ltd.
Primary Disease or Condition Being Studied: Angelman Syndrome (AS)
A Study of OV101 in Individuals With Angelman Syndrome (AS)
The purpose of this study is to assess the efficacy and safety of oral OV101 (gaboxadol) in pediatric subjects with Angelman syndrome.
- Trial name
- NEPTUNE (NCT04106557)
- Testing
- Gaboxadol
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 104 people
- Sponsor
- Ovid Therapeutics Inc.
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis
Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals…
- Conditions
- Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple, Fragile X Syndrome
- Trial name
- NCT06139172
- Testing
- Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual
- Where
- United States
- Volunteers
- 79 people
- Sponsor
- Rush University Medical Center
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
Angelman Syndrome Video Assessment (ASVA) Source Material Study
This is a longitudinal, observational, nonrandomized, fully remote study enrolling approximately 55 participant-caregiver dyads.
- Trial name
- ASVA SMS (NCT05637697)
- Where
- United States
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- The Emmes Company, LLC
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
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
Angelman Natural History Study - FAST Spain
The goal of this study is to conduct a prospective, longitudinal study to observe the natural clinical progression and disease outcome of AS patients receiving no disease-modified intervention, with the purpose of obtaining data…
- Trial name
- NCT06115109
- Testing
- Non intervention, Observational study
- Where
- 2 sites in Spain
- Volunteers
- 40 people
- Sponsor
- Puerta de Hierro University Hospital