Research

ASTRal

The ASTRal (Angelman Syndrome Translational Research) project will identify and characterize the AS population in Ireland and will generate a greater understanding of unmet clinical and research needs in people with AS in Ireland. The information gathered and pathways developed via this project will optimize care for the AS population in Ireland, contribute vital information to the international AS community, and act as a template for the development of clinical and research pathways for other rare neurogenetic diseases in Ireland.

This project will prepare the landscape to deliver clinical trials of advanced new therapies to Irish children with neuro-genetic conditions, putting the necessary elements in place for safe, expert and equitable delivery. This project will help Children’s Health Ireland to expand its portfolio of clinical research and trials in the area of rare neurogenetic diseases, a key strategic area of growth for the organization.

Clinical Trials

As of November 2024 there are a number of active clinical trials for Angelman Syndrome. There are wonderful websites which explain Angelman Syndrome therapeutics in great detail and keep to to date with industry activity

FAST (Foundation for Angelman Syndrome Therapeutics) works by funding scientific research, supporting clinical trials, and advocating for greater awareness and treatment options. Its mission is to improve the lives of those affected by AS through scientific innovation and advocacy. Also check out UK chapter FAST UK
www.angelmanclinicaltrials.com is another great site collaborated on by a number of Angelman organisations. It provides information on the clincal trial process and the latest happenings in the industry.

Angelman Syndrome Alliance

The ASA (Angelman Syndrome Alliance) is an association of several parent organizations. Angelman Syndrome Ireland (ASI) are part of this consortium. The primary goal is to promote scientific research into Angelman syndrome.

A research grant is awarded every two years.

In addition, the ASA regularly organizes scientific conferences to present research results, network scientists and enable exchange with parent organizations.

In addition, a CAB (Community Advisory Board) was set up to advise pharmaceutical companies on study design and study procedure.

Visit ASA Website

Global Angelman Syndrome Registry (GASR)

The Global Angelman Syndrome Registry is a project designed for individuals diagnosed with Angelman syndrome and those working towards research and treatments.

Parents and caregivers are driving the collection of data by contributing to the largest dataset on Angelman syndrome by entering details of their loved one/s diagnosis, medical history, development and more in a series of online modules. The Global Angelman Syndrome Registry is a tool for understanding developmental progress, medication and seizure management, but more importantly, it provides an invaluable resource to advance the search for therapeutics.

Personal Data & Privacy

The Global Angelman Syndrome Registry is on a cloud based Amazon Web Server hosted in Australia by Queensland University of Technology, who host a number of other patient registries. It has medical-grade security. All information we receive from you will be treated confidentially and will be encrypted and stored on a secure server. The Rare Disease Registry Framework incorporates several levels of security to protect against data loss and unauthorised access to registry information.

Any Registry data disseminated to the public domain will be aggregated and de-identified, as patient names, dates of birth and other information which could potentially lead to the identification of participants will be removed from the analysis and replaced with a unique identification number.

Visit GASR Website