Natural History Study on Metachromatic Leukodystrophy To Use Innovative Methodology

As reported in Biospace, the National Organization for Rare Disorders (NORD) has just opened registration for patients to take part in a natural history study on metachromatic leukodystrophy (MLD), a lethal genetic disorder. The disease is currently amongst the 95% of rare diseases without any FDA-approved options. The Natural History Of Metachromatic Leukodystrophy (HOME) Study, aims to improve the scientific understanding of the disease, as well as to test out a new study method. To keep patients safe, the study will take place online.

Metachromatic Leukodystrophy

Metachromatic leukodystrophy is a rare genetic disease that results from damage to the nerve cell’s protective coating, the myelin sheath, in the central and peripheral nervous systems. There are three subtypes which are divided by age of onset. However, all are progressive and characterized by motor issues, intellectual delay, speech difficulty, seizures, behavior changes, and trouble walking. There is no cure, but symptomatic treatment options exist.

The Natural History Study

The NORD researchers will collect a vast amount of data on patients utilizing a novel framework which uses patient’s reports to build natural history studies for rare diseases. In theme with 2020, the HOME study will be virtual, allowing patients to participate without the burdens of travel and potential COVID-19 exposure.
The researchers aim to create a fuller scientific picture of the disease, as well as demonstrate the success and ability of the novel research methods they are using to build a natural history study.  They hope that by making patient participation easier by putting it online that they will create a new precedent for clinical trials. They also hope their unique research method will catch on as a faster method to use natural history studies to speed up drug development.
 President and CEO of NORD Peter L. Saltonstall said,
“Through this ground-breaking project, NORD aims to make a significant contribution to regulatory science by proving the utility of well-designed patient studies, integrating data sources, and presenting a set of good practices to inform future research. It is through innovative new approaches like the HOME Study and with the support of FDA that we can raise the voices of patients and caregivers and create lasting, meaningful change in the process of rare disease drug development.”

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