Current Clinical Trials
Active Angelman Syndrome
Research Studies
KIK-AS
This is a Phase 1/2, open-label, multiple-dose, dose-escalating study to evaluate the safety, tolerability, and plasma and cerebrospinal fluid (CSF) concentrations of GTX-102 in pediatric patients with Angelman syndrome. Approximately 20 patients (male and female) ≥ 4 and ≤ 17 years of age with a genetically confirmed diagnosis of full maternal UBE3A gene deletion (within 15q11.2-q13 region) will be enrolled.
Angelman Syndrome Natural History Study
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. This study will gain a better understanding of the disease progression and clinical features of AS by observing children with AS over an extended period of time.
Tangelo (Roche/Genentech)
Tangelo
The Tangleo clinical trial, sponsored by Hoffman La Roche is now open. This is a study of the safety and tolerability of RO7248824 in children with Angelman syndrome.
Below is a preliminary list of inclusion criteria:
Inclusion Criteria
Diagnosis of Angelman syndrome
Between 1 and 12 years old
Stable medical status for 4 weeks prior to screening visit
Ability to tolerate blood draws
Able to undergo LP and IT injection, under sedation or anesthesia 3 times during an 8-week period
See https://clinicaltrials.gov/ct2/show/NCT04428281?cond=Angelman+syndrome&draw=2&rank=3 for more info
More Information and Screening Enrollment
Find more information on the Roche website.
Questions about this study and enrollment interest can be directed to:
888-662-6728 (U.S. and Canada) or global-roche-genentech-trials@gene.com
Reference Study ID Number: BP41674
Halos
HALOS
The HALOS clinical trial, sponsored by Ionis Pharmaceuticals is now open. This is a study of the safety and tolerability of ION582 in individuals with Angelman syndrome. ION582 is an investigational antisense medicine designed to increase production of UBE3A protein.
This is a Phase 1-2a, open-label dose-escalation study of ION582. Following a screening period of up to 4 weeks, eligible participants will receive intrathecal (IT) injections of ION582. Participants will be followed for up to 32 weeks after dosing.
Currently, the study is taking place at:
Chicago, IL
Participant Requirements
Inclusion Criteria
Diagnosis of Angelman syndrome (mutation or deletion)
Between 2 and 50 years old
Currently receiving stable doses of anti-epileptic medication, behavioral management medications, sleep medications, gabapentin, cannabidiol, and including special diets, supplements or nutritional support for at least 3 months prior to first dose.
Parent must be willing to not share personal or study information on social media or websites until notified tha the study is completed.
To learn more, please click here
Neuren Pharmaceuticals Limited
The primary purpose of this study is to investigate the safety, tolerability and pharmacokinetics of treatment with NNZ-2591 oral solution in children and adolescents with Angelman syndrome. The secondary purpose is to investigate measures of efficacy. Subjects will receive treatment of orally administered NNZ-2591 oral solution (50 mg/mL) at weight-banded doses for a total of 13 weeks
https://clinicaltrials.gov/ct2/show/NCT05011851?cond=Angelman+syndrome&draw=2&rank=2