NORD Launches Innovative Natural History Study on Metachromatic Leukodystrophy (MLD)

WASHINGTON, Oct. 1, 2020 /PRNewswire/ -- Today, the National Organization for Rare Disorders (NORD®) opened registration for a natural history study on metachromatic leukodystrophy (MLD), a lethal rare disease currently without an FDA-approved treatment. NORD's Natural History Of MEtachromatic Leukodystrophy (HOME) Study 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. This pilot project is funded through an award (#75F40119C10091*) to NORD from the US Food & Drug Administration (FDA), Center for Biologics Evaluation and Research (CBER).

The HOME Study, hosted by NORD's IAMRARE™ Registry Program, 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.

"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," said Peter L. Saltonstall, President and CEO of NORD. "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."

Metachromatic leukodystrophy (MLD) is a rare autosomal recessive genetic disorder that causes the destruction of the myelin sheath, the protective fatty layer surrounding the nerves in both the central and peripheral nervous systems. There are three types of MLD based on the age symptoms appear; regardless of the subtype, the last stage of this devastating disease is often characterized by blindness, psychosis and paralysis. Bone marrow transplantation may delay progression of the disease in some infantile-onset cases, while other treatment is symptomatic and supportive. It is a painful and debilitating disorder for those affected, as well as their caregivers.

"The HOME Study highlights the value of patient participation in research and therapy development, empowering MLD patients and caregivers to make a difference for themselves and for others who may be born with this condition in the future," said Pamela Gavin, NORD's Chief Strategy Officer. "The project also underscores the important contributions multi-stakeholder research collaborations can make to tackling novel frameworks, and NORD is grateful to those who volunteered to participate in our MLD advisory councils. Our hope is that the success of this study will support the efficient development of treatments and cures for MLD and progress our use of external control arms for the benefit of the entire rare disease community."

Visit our website for more information and to join NORD's HOME Study.*Funding for this press release was made possible, in part, by the Food and Drug Administration through award #75F40119C10091. Views expressed in written materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does any mention of trade names, commercial practices, or organization imply endorsement by the United States Government.*

About the National Organization for Rare Disorders (NORD)®

The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseases. NORD is committed to the identification, treatment and cure of more than 7,000 rare diseases, of which approximately 90% are still without an FDA-approved treatment or therapy. Rare diseases affect over 25 million Americans. More than half of those affected are children.

NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 37 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research and providing patient and family services for those who need them most. NORD is made strong together with over 325 disease-specific member organizations and their communities and collaborates with many other organizations on specific causes of importance to the rare disease patient community. Visit rarediseases.org.  

SOURCE National Organization for Rare Disorders (NORD)