The HOME Study is a web-based natural history study for patients with metachromatic leukodystrophy. It is hosted by the National Organization for Rare Disorders (NORD); an independent non-profit patient advocacy organization dedicated to individuals with rare diseases and the organizations who serve them.~The study collects information from participants (or their authorized respondents, heretofore referred to collectively as participants) who are affected by metachromatic leukodystrophy.~Data are collected at pre-baseline, baseline, 3, 6, 9, and 12 months through online surveys, telephone Interviews, web-based virtual assessments with a clinical study coordinator, and a (optional - only for U.S. residents) mobile application. Data entered into this study includes name, date of birth, diagnosis, treatments, medical history, family history, quality of life, disease progression, treatment - past and proposed, general medical information, genetic test results and mutations, blood level results, upload of medical records.
The primary aims of the HOME Study are to:~Design and implement a natural history study for metachromatic leukodystrophy to serve as a source of external control data, to augment or replace concurrent controls in clinical trials;~Pilot test and develop guidance on how to design, conduct, and analyze the data from a natural history study to support adaptive trial designs for regulatory use;~Reduce burden of participation in trials and provide a potential solution to patient recruitment challenges, particularly for RCT's; and~Design approaches that support remote participation in studies.