The Natural History Of Metachromatic Leukodystrophy (HOME) Study, hosted by NORD’s IAMRARE™ Registry Program, represents an opportunity to address an area of unmet need, providing dynamic data collection and a novel framework for building regulatory-grade rare disease natural history studies incorporating patient-reported information.
The HOME Study enables patients and caregivers to virtually contribute directly to research from the comfort and safety of their home, without the demands and challenges of traveling to a study site. The goals of the study are to enhance understanding of metachromatic leukodystrophy, inform methods for building natural history studies to serve as external controls, reduce the burden for patient participation in clinical trials, and provide innovative methods for the use of natural history study data to help accelerate therapeutic drug development and FDA decision-making.
The primary aims of the HOME Study are to:
● Design and implement a natural history study to serve as a source of external control data, to augment or replace the concurrent control group in a clinical trial
● Pilot, test and develop guidance on how to design, conduct, and analyze the data from a natural history study for regulatory use
● Reduce burden of participation in trials and provide a potential solution to patient recruitment challenges, particularly for RCT’s
● Design approaches that support remote participation in studies.
Metachromatic leukodystrophy (MLD) is a rare hereditary disease characterized by accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central nervous system and the peripheral nervous system. There are three types of MLD based on the age symptoms appear: late-infantile MLD, juvenile MLD, and adult MLD. All subtypes ultimately affect both intellectual and motor function. Symptoms vary by type but can include difficulty talking, seizures, difficulty walking, and behavior and personality changes. MLD is caused by changes (mutations) in the ASA gene (also known as ARSA) and, in rare cases, the PSAP gene.
More than a half of the children affected by MLD show symptoms in the first 3 years of life. This form is called late-infantile MLD. Often the first signs of disease are from demyelination of the peripheral nervous system and include difficulty walking. Juvenile MLD (J-MLD) is less common and occurs in 20-30% of people with MLD. Onset is between 4 years old and sexual maturity, usually between 12 and 14 years of age. Often with J-MLD, the first signs include behavioral problems or new difficulty in school. In the United States, the incidence of MLD may range from approximately 1 in 40,000 individuals to 1 in 100,000 individuals. About 1 in 100 people are carriers of the ARSA mutation MLD.
Frequently Asked Questions
Who can join the study?
This study is open to anyone who has a confirmed diagnosis of metachromatic leukodystrophy, regardless of prior treatment of any kind, current trial involvement, or current involvement with other registries or natural history studies. Those with an MLD diagnosis, regarldess of whether they developed symptoms or not, are eligible to participate. Newly diagnosed patients are encouraged to join, and their input is important to inform all disease stages.
What types of data will be collected in HOME STUDY?
The data collected is uniform and includes but is not limited to
● Patient and family medical history
● Diagnostic information
● Disease progression
● Management of care
● Medical visits and hospitalizations
● Quality of life
● Participation in clinical trials
● Participant feedback on their experience with the HOME Study
How are the data collected?
Data are collected through a secure web-based system developed by the National Organization for Rare Disorders, Inc. (NORD), an independent non-profit committed to the identification, treatment, and cure of rare diseases. Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts. Data will also be collected via telephone and video-based assessments by the Study Coordinator at baseline (first visit) and at three (3), six (6), nine (9), and twelve (12) months after study enrollment. Participants will also provide information in a mobile app (the SHAPE app) designed specifically for this study.
How long will this study last?
After enrolling, you will participate for approximately one year. This study will be open for five years.
Who is a study participant?
A study participant is the individual who takes part in a research study and whose information is collected for that research i.e. the individual with a diagnosis of metachromatic leukodystrophy. Study participants may consent to enter and share their own personal data.
Who is a reporter/respondent?
A reporter/respondent is an individual who completes the surveys on behalf of the patient/study participant, when they are unable to do so on their own behalf.
Is the data safe?
Yes, the data is safe. The registry follows strict government guidelines to assure patient information is protected. The platform is served over HTTPS, which provides traffic encryptions so as to prevent eavesdropping and man-in-the-middle attacks. Communications between the registry platform application server and the database are also encrypted.
This study is sponsored by NORD with support from FDA CBER FDABAA-19-00123-A3/BAA PMWP#109.