Angelman Syndrome Clinic
Director: Dr. Gali Havazelet-Heimer
Coordinator of the Multidisciplinary Center for Neurogenetics: Etty Bason
Coordinating nurse: Noit Levy-Soretz
Clinical dietician: Ronit Fechthold-Goldman
Physiotherapist: Michal Sussman Blumenfeld
Contact:
Phone: 03-5302687
Fax: 03-5305031
Clinic hours:
Tuesday, 8:00-15:00, by appointment only
Location:
Edmond and Lily Safra Children's Hospital, Neurology Unit, Floor 3
Sheba Tel Hashomer Medical Center hosts the sole clinic in Israel dedicated to Angelman Syndrome, ranking as the second largest clinic of its kind in Europe. The multi-professional clinic was set up in 2012 to offer a holistic solution to the diverse and complex issues faced by Angelman syndrome patients and their families, and we strive to provide support in a central and organized way. Our clinic team works in close cooperation with the Israeli Association for Angelman Syndrome.
What is Angelman syndrome?
Angelman's Syndrome is a rare neurodevelopmental genetic disorder that affects approximately 1 in 15,000 births. It is characterized by significant delays in motor and cognitive development, almost a complete absence of spoken language, movement and balance issues, hyperactivity and behavioral challenges, sleep disturbances, and a higher incidence of epilepsy.
Clinic services
Diagnosis: Children referred with suspected Angelman Syndrome undergo counseling and necessary tests, including EEG and genetic tests.
Treatment and Follow-up: Patients come for a focused day of treatment and follow-up, where they meet with doctors and therapists, and undergo clinical tests based on their specific needs.
Innovative treatments and research - the Sheba Medical Center is the only center outside the United States participating in Phase 2 research on Gaboxadol in patients with Angelman syndrome over the age of 18. This is a multicenter, randomized, double-blind, placebo-controlled clinical research initiated in 2017. It is the first clinical trial in Angelman syndrome conducted by a commercial pharmaceutical company. The study is planned to include 75 patients from 13 of the largest medical centers in the United States as well as the Angelman Clinic at Sheba.
Seminars and lectures - the clinic staff actively participates in the seminar days for the patients' families held every year at the initiative of the Israeli Association for Angelman Syndrome. They also regularly participate in international conferences alongside researchers and professionals in the field.