Rare Daily Staff

The National Institutes of Health (NIH) has awarded approximately $31 million in grants in fiscal year 2019 to 20 teams—including five new groups—of scientists, clinicians, patients, families and patient advocates to study a wide range of rare diseases through the Rare Diseases Clinical Research Network.

An additional $7 million has been awarded to a separate data coordinating center to support these research efforts at Cincinnati Children’s Hospital Medical Center.

The research teams, called Consortia, will work to better understand rare diseases and move potential treatments closer to the clinic. New consortia include: The Global Leukodystrophy Initiative Clinical Trials Network, led by Children’s Hospital of Philadelphia; Congenital and Perinatal Infections Rare Diseases Clinical Research Consortium, led by the University of Alabama; Frontiers in Congenital Disorders of Glycosylation, led by Mayo Clinic; Hyperphenylalaninemia Disorders Consortium, led by Oregon Health and Science University; and Rare Disease Network for Myasthenia Gravis, led by George Washington University.

The consortia include basic and clinical investigators, patient advocacy groups, and biotechnology and pharmaceutical companies working together to advance therapeutic development for a specific rare disease.

For example, the NIH has awarded $7.8 million to a research team at George Washington University (GW) to establish a rare disease network for myasthenia gravis.

“Myasthenia gravis is a chronic autoimmune disease that affects how well the nerves and muscles communicate with each other. Often patients experience extreme weakness, struggle with their vision, and are even hospitalized because of difficulty breathing,” said Henry Kaminski, lead investigator and chair of the Department of Neurology and Meta Amalia Neumann Professor of Neurology at the GW School of Medicine and Health Sciences. “This grant will give the researcher community the needed infrastructure to study this rare disease in order to develop new therapies.”

The grant will fund research into the underlying pathophysiology of the disease, collecting and studying biospecimens in order to define disease variability and identify biomarkers, and establishing clinical outcome measures to enhance clinical trial readiness.

Through the grant, the research team will pilot their own clinical trial to determine whether a current cancer drug that works to eliminate cells producing harmful antibodies might also be effective for myasthenia gravis patients.

In order to increase the number of labs researching myasthenia gravis and aid further discovery in the field, the grant will also support a career enhancement program. This will include new training and educational opportunities for scientists, physicians, and the lay public. These opportunities will not only increase the pool of young investigators focusing their careers on rare diseases, specifically myasthenia gravis, but improve awareness of the unique needs of myasthenia gravis patients.

“The grant is not a just a single project, but the establishment of a resource that will drive research for many years,” said Kaminski. “Other rare disease networks funded in the last 10 years have advanced treatments for these disorders that otherwise would have been impossible.”

Returning Consortia that are partaking in the new funding include: Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe); Genetic Disorders of Mucociliary Clearance; Porphyrias Consortium; Urea Cycle Disorders Consortium; The North American Mitochondrial Disease Consortium (NAMDC); Dystonia Coalition; Brain Vascular Malformation Consortium: Predictors of Clinical Course; Nephrotic Syndrome Rare Disease Clinical Research Network III; Brittle Bone Disorders Consortium; Primary Immune Deficiency Treatment Consortium; Consortium of Eosinophilic Gastrointestinal Disease Researchers; Developmental Synaptopathies; The Inherited Neuropathy Consortium; Lysosomal Disease Network; and Vasculitis Clinical Research Consortium (VCRC).

Photo: Henry Kaminski, lead investigator and chair of the Department of Neurology and Meta Amalia Neumann Professor of Neurology at the GW School of Medicine and Health Sciences

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