This page showcases industry‑facing collaborations and resources designed to unite clinicians, researchers, and companies in accelerating Angelman syndrome clinical trial readiness, data sharing, and therapeutic development.
The Bayley Scales of Infant And Toddler Development is a standardized developmental assessment with norms provided for children birth to 42 months of age that measures cognitive, expressive communication, receptive communication, fine motor, and gross motor abilities.
The Angelman Syndrome Biomarkers and Outcome Measures Consortium (ABOM) is a collaborative initiative focused on identifying, validating, and standardizing biomarkers and clinical outcome measures that are meaningful, reliable, and specific to Angelman syndrome. ABOM brings together leading researchers, clinicians, and industry stakeholders to generate the tools and data necessary to support regulatory pathways and accelerate therapeutic development.
By aligning on robust, sensitive endpoints and measurable biological markers, ABOM aims to reduce uncertainty in clinical trials and improve the likelihood of success for emerging treatments. The consortium plays a critical role in ensuring that clinical research in Angelman syndrome is scientifically rigorous, patient-centered, and regulatory-informed.
To learn more contact amoore@angelman.org
Autism BrainNet promotes innovative, high-quality research on postmortem brain tissue with the goal of improving the understanding of the biological causes of autism and related neurodevelopmental conditions.
There have been several donations from the Angelman syndrome community and you can learn more about this at 877-333-0999 or email info@autismbrainnet.org.
The Angelman Syndrome Foundation’s Clinical Trials Committee is a multidisciplinary advisory group dedicated to advancing safe and effective therapies for Angelman syndrome. Co-chaired by Elizabeth Jalazo, MD and Elizabeth Berry‑Kravis, MD, the committee brings together experts in neurology, genetics, clinical research, and patient advocacy. Their work involves evaluating trial designs, advising on patient‑centered outcome measures, ensuring ethical standards, and supporting the translation of promising preclinical findings into meaningful clinical studies for the community.
To schedule a time to meet with the committee contact Amanda Moore at amoore@angelman.org.
The CAB is a group of parent advocates and expert parents/carers has come together with a shared mission: to discuss and advise on the latest developments, challenges, and issues related to Angelman Syndrome, ensuring that the voices of families are represented at every level.
CAB members trained with EURORDIS, a global organization dedicated to rare disease advocacy, to be able to effectively engage in crucial conversations with researchers, clinicians, and policymakers.
The LADDER Learning Network is a global, multi-site collaborative that connects expert clinicians, researchers, and families living with Angelman syndrome to improve care and accelerate research. It links providers to share insights on complex cases, connects patients to clinical trials, and brings together real-world data to help pave the way for transformative treatments.
Designed with clinical trial readiness at its core, the LADDER Network offers a robust foundation to support therapeutic development. With established sites, standardized care protocols, trained investigators, and an engaged patient population, LADDER is uniquely positioned to streamline study startup, reduce recruitment delays, and enhance trial quality—helping industry partners bring treatments to families faster.
For more information, contact swelch@angelman.org
Linking Angelman and Dup15q Data for Expanded Research (LADDER), is a strategic collaboration between the Angelman Syndrome Foundation and the Dup15q Alliance.
LADDER is a database that brings together information about Angelman and Dup15q syndromes, collected from sources all over the world including:
The data in LADDER can be accessed by:
Researchers at UConn Health used stem cells derived from patients with Angelman syndrome to identify the underlying cellular defects that cause AS. The researchers report that the brain cells of individuals with Angelman syndrome fail to properly mature, causing a cascade of other developmental deficits that result in Angelman syndrome.
See an article published in Nature
The mission of Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.