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.
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.
Study Type
OBSERVATIONAL
Enrollment
21
National Organization for Rare Disorders
Danbury, Connecticut, United States
Change in Gross Motor Function Classification System - Metachromatic Leukodystrophy (GMFC-MLD)
The GMFC-MLD consists of seven levels and is applicable from the age of 18 months. It represents all clinically relevant stages from normal (level 0) to loss of all gross motor function (level 6).
Time frame: Baseline, 3, 6, 9, 12 months
Change in Expressive Language Function Classification - Metachromatic Leukodystrophy (ELFC-MLD)
Describes expressive language.
Time frame: Baseline, 3, 6, 9, 12 months
Change in WHO Motor Milestone
Assessment of six milestones that are fundamental to acquiring self-sufficient, erect locomotion.
Time frame: Baseline, 3, 6, 9, 12 months
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