The Natural History of Metachromatic Leukodystrophy Study (HOME Study)

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.

Inclusion criteria

The study is open to English speaking individuals of all ages who have a diagnosis consistent with metachromatic leukodystrophy (MLD). MLD is defined as:

• Mutations in the ASA and PSAP genes identified by genetic testing;
• A diagnosis of MLD by MRI of the brain; or
• Sulfatase enzyme activity and urinary sulfatide excretion identified by biochemical testing.

Exclusion criteria

Patients will be excluded from the study if they do not meet inclusion criteria.

• Non-English speaking individuals
• No confirmed diagnosis of metachromatic leukodystrophy.