Integrated Database and Registry for Dup15q and Angelman Syndromes Aims to Improve Patient Care and Treatment
The new clinic network platform will establish a network of patient-powered data to increase caregivers’ understanding of the disorders
A new network platform, Linking Angelman and Dup15q Data for Expanded Research (LADDER), will offer caregivers access to information about a larger population of patients living with Dup15q or Angelman syndromes to better inform their decisions regarding treatments and interventions.
RTI International (RTI), a nonprofit research institute, together with Dup15q and Angelman Syndrome Patient Advocacy Groups and the 15q Clinical Research Network will develop and host the clinic network database to be shared across multiple national and international sites. This collaborative effort is funded by the Dup15q Alliance and the Angelman Syndrome Foundation (ASF).
“The database will establish a global network of patient-powered data that will be used to improve care for people living with Dup15q or Angelman syndrome,” said Anne Wheeler, PhD project lead and RTI researcher at the Center for Newborn Screening, Ethics, and Disability Studies. “Furthermore, the heightened level of data analysis and discovery will increase our understanding of the disorder and help researchers target therapies and advance clinical trials more quickly and efficiently.”
Dup15q and Angelman syndromes are rare neuro-genetic disorders that result from changes on chromosome 15. These changes are estimated to occur in one in 15,000 live births. Characteristics or symptoms of Dup15q and Angelman Syndromes include developmental delay, lack of speech, seizures, and walking and balance disorders. Dup15q syndrome is additionally associated with autism and significant intellectual disabilities. Because of their genetic relationship to autism and other disorders, many researchers believe that curing Dup15q or Angelman syndromes will lead to significant findings for similar disorders.
“The combination of data collection methods and cross disorder investigation is key to driving discovery in rare disorders like Dup15q and Angelman Syndromes,” says Vanessa Vogel-Farley, Executive Director of the Dup15q Alliance. “We are proud to support this first-of-its-kind project in 15q related disorders.”
RTI will support the development of the database by:
- Finalizing standardized forms for clinicians and parents;
- Developing a website and portals for data entry;
- Managing data from various clinic sites; and
- Working with external partners, like the Angelman Syndrome Natural History Study and the Global Angelman Registry, to link other existing datasets to the prospective clinical data.
In addition to developing and hosting the database, RTI will assist the Dup15q Alliance and ASF with data analysis and oversight, including establishing protocols and parameters for data usage and publication.
“We are excited to partner with RTI and Dup15q Alliance to provide a robust database that will be used to enhance research, care and aggressively move clinical trials forward,” says Amanda Moore CEO of ASF. “The ASF is honored to provide funding for such an essential database to support our mission of working towards a therapeutic cure.”