New Medical Network Helping Angelman, Dup15q Patients Find Healthcare Providers
A new medical network connects Angelman syndrome (AS) and dup15q syndrome patients with specialized, high-quality care globally.
The initiative, called the LADDER Learning Network, derives from a partnership between the Angelman Syndrome Foundation (ASF) and Dup15q Alliance. Angelman is caused by a missing or malfunctioning UBE3A gene present in the maternal 15q chromosome and causes severe neurological impairment. Dup15q syndrome is a related developmental disorder.
LADDER will connect patient families through ASF and Dup15q Alliance clinics to the more than 40 healthcare professionals around the world who have extensive experience treating the two rare conditions. Angelman is thought to occur in 1 in 15,000 births, while dup15q is estimated to exist in 1 in 5,000 births.
“Access to high-quality medical care is key for those with AS and dup15q to thrive,” Amanda Moore, ASF CEO, said in a press release. “Through our ASF clinics, deserving families now have access to competent and knowledgeable care teams to get the answers they desperately seek.”
The network comprises 18 clinics in the U.S. and six partner clinics abroad and includes specialists such as genetic counselors, clinical geneticists, neurologists, psychiatrists, psychologists, speech pathologists, physical therapists, and occupational therapists.
Four new clinics are expected to be added to the network this year. Two clinics opened in February — one each at Boston Children’s Hospital and Children’s Hospital Los Angeles.
“The connections we’re making not only improve quality of life, but they are paving the way for possible life-transforming treatments,” Moore said. “We will continue to work hard every day to support families in their journeys.”
The aim for the LADDER Learning Network is to:
- Link patient families to experienced and highly specialized medical providers through the organizations’ clinics.
- Connect care providers with each other through monthly video calls so that they can exchange information and insight about cases.
- Connect the industry with possible locations for clinical trials. The added benefit is that patients will be in place when such trials are ready.
- Maintain the global LADDER database to lessen the paperwork burden on families.
Established in 2019, LADDER (Linking Angelman and Dup15q Data for Expanded Research) links data on Angelman syndrome and dup15q syndrome patients that is collected from multiple sources including registries, research studies, caregiver reports, and clinic visits. The goal is to enhance research and accelerate treatment development.
“While Angelman syndrome and dup15q are different, the same set of medical providers often care for both populations of individuals,” said Elizabeth Jalazo, MD, the network’s clinical director. “The combination of data collection and cross-disorder investigation is key to driving discovery.”
To date, ASF has invested more than $12.4 million in global research, and plans to add $1.6 million toward studies this year. For its part, the Dup15q Alliance has pledged 44% of this year’s budget to clinics and investigations.
“We envision a world where families, clinicians, and advocates enable dup15q individuals to live life to their full potential,” said Carrie Howell, Dup15q Alliance executive director. “Dup15q clinics allow us to empower individuals living with dup15q syndrome by providing them access to the best medical care in the world for this disorder.”