Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.

Autor:	Potter SN; RTI International, 3040 E. Cornwallis Road, Research Triangle Park, NC 27709-2194, USA., Reynolds E; RTI International, Research Triangle Park, NC, USA., Okoniewski KC; RTI International, Research Triangle Park, NC, USA., Edwards A; RTI International, Research Triangle Park, NC, USA., Gable J; RTI International, Research Triangle Park, NC, USA., Hill C; RTI International, Research Triangle Park, NC, USA., Bakalov V; RTI International, Research Triangle Park, NC, USA., Zentz S; RTI International, Research Triangle Park, NC, USA., Whiting C; RTI International, Research Triangle Park, NC, USA., Cheves E; RTI International, Research Triangle Park, NC, USA., Garbarini K; Angelman Syndrome Foundation, Aurora, IL, USA.; Dup15q Alliance, Matthews, NC, USA., Jalazo E; Department of Pediatrics, The University of North Carolina School of Medicine, Chapel Hill, NC, USA., Howell C; Dup15q Alliance, Matthews, NC, USA., Moore A; Angelman Syndrome Foundation, Aurora, IL, USA., Wheeler A; RTI International, Research Triangle Park, NC, USA.
Jazyk:	angličtina
Zdroj:	Therapeutic advances in rare disease [Ther Adv Rare Dis] 2024 May 27; Vol. 5, pp. 26330040241254122. Date of Electronic Publication: 2024 May 27 (Print Publication: 2024).
DOI:	10.1177/26330040241254122
Abstrakt:	Angelman syndrome (AS) and duplication 15q (dup15q) syndrome are rare neurogenetic conditions arising from a common locus on the long arm of chromosome 15. Individuals with both conditions share some clinical features (e.g. intellectual disability, epilepsy) and often require lifelong care. Disease-modifying therapies for both conditions are emerging, resulting in a significant need for a better understanding of the natural history of both AS and dup15q. Patient advocacy groups for both conditions recognized a need for a data repository that would link data on individuals from multiple sources to expand research, increase understanding of natural history, and accelerate the development of treatments, resulting in the Linking Angelman and Dup15q Data for Expanded Research (LADDER) Database. This paper describes the development and functionality of the LADDER Database - including challenges, lessons learned, and preliminary feasibility - and how it can be used as a model for other rare conditions. Competing Interests: KG is a former employee of and owns stock in Invitae Laboratories. EJ is a paid consultant for both RTI International and the ASF. AW has received funding from the ASF, Foundation for Angelman Syndrome Therapeutics (FAST), Ovid Therapeutics, Ionis Pharmaceuticals, and F. Hoffmann-La Roche. The remaining authors declare that they have no relevant competing interests. (© The Author(s), 2024.)
Databáze:	MEDLINE
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