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
A Trial of Levodopa in Angelman Syndrome
This study is designed to determine whether levodopa will lead to an improvement in the development and tremor in children with Angelman syndrome (AS).
- Trial name
- NCT01281475
- Testing
- Levodopa
- Where
- 7 sites in United States
- Volunteers
- 67 people
- Sponsor
- Wen-Hann Tan
Angelman Syndrome
An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome
A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Angelman syndrome
- Trial name
- AS-001 (NCT05011851)
- Testing
- NNZ-2591
- Where
- 3 sites in Australia
- Volunteers
- 17 people
- Sponsor
- Neuren Pharmaceuticals Limited
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
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
Williams Syndrome, Angelman Syndrome
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II.
- Conditions
- Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome
- Trial name
- NCT00004351
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
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, 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
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
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, Chromosome 15q Duplication (dup15q) Syndrome
Angelman Syndrome (AS) Biomarker Study
The primary objective of this study is to measure ubiquitin-protein ligase E3A (UBE3A) protein levels in cerebrospinal fluid (CSF) and to evaluate its utility as a biomarker in support of the development of therapies for AS.
- Trial name
- NCT04103333
- Testing
- Lumbar Puncture, Blood Collection
- Where
- 5 sites in United States
- Volunteers
- 20 people
- Sponsor
- Biogen
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
Trisomy 21, Trisomy 18
Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a…
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
- Trial name
- MAPS (NCT01852708)
- Where
- 9 sites in United States, Spain and 1 more
- Volunteers
- 1,059 people, healthy volunteers welcome
- 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
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
HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome
The purpose of this study is to evaluate the safety and tolerability of ascending doses of ION582 administered intrathecally in participants with Angelman syndrome.
- Trial name
- NCT05127226
- Testing
- ION582
- Where
- 11 sites in United States, Australia and 4 more
- Volunteers
- 71 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
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
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