Orphan Conditions Get Increased NIH Funding

Muscular Dystrophy Association Applauds New Federal Support For Neuromuscular Diseases

Main Category: Muscular Dystrophy / ALS
Also Included In: Neurology / Neuroscience
Article Date: 09 Oct 2009

The National Institutes of Health has announced a $117 million expansion of its Rare Diseases Clinical Research Network, adding 14 research consortia, or groups, to the Network's second phase and will continue funding the five original groups. Having long recognized the research challenges for communities affected by rare disorders, the National Institutes of Health established the Office of Rare Disease Research in 1993 to ensure an increased focus on rare disorder treatment discovery. The recent funding announcement of the 19 consortia represents an extraordinary increase and an innovative collaborative approach involving a cross section of NIH institutes.

Three of the new disease groups will be directed by Muscular Dystrophy Association-supported physician/researchers.

Dr. Salvatore DiMauro of Columbia University, a world renowned expert on mitochondrial and metabolic diseases whose research is supported by MDA, will be the principal investigator for the North American Mitochondrial Diseases Consortium. Mitochondria produce the energy that nerve and muscle cells need to function.

DiMauro said, "For me, a researcher interested in mitochondrial diseases for the past 30 years, an NIH-sponsored North American Consortium is the recognition, at long last, that this group of disorders is an important public health problem."

"People with mitochondrial diseases have long felt like orphans in the large community of patients with inborn errors of metabolism because their disorders were not clinically uniform nor readily identified by the general public. MDA has supported mitochondrial disease patients and research for over two decades," DiMauro added.

The new disease groups will create specialized international research networks, allowing collaboration and sharing of data. They also include patient advocacy groups, crucial for providing patients for clinical trials, something that has always been a challenge because the number of patients affected by these diseases is so low.

The research conducted with the new NIH funding will focus on the history, epidemiology, diagnosis and treatment of over 95 rare diseases. A rare disease is defined as a disease or condition that affects less than 200,000 people in the United States.

Dr. Michael Shy is a leading researcher of Charcot-Marie-Tooth disease, an inherited neurological disorder, and heads the North American CMT Network, funded by MDA. He is also the director of the MDA Clinic at Wayne State University in Detroit and has been named principal investigator for the Inherited Neuropathies Consortium.

"I am certain that it will speed up discovery of treatments and cures. Developing a system in which all patients are evaluated the same way in the U.S., Europe and beyond will provide the natural history data needed to plan treatment trials. Partnerships with scientists and clinicians ensure that treatment trials will be rationally based."

Another MDA-supported researcher, Dr. Robert Griggs of Rochester University in New York has served for five years as principal investigator of the Consortium for Clinical Investigations of Neurologic Channelopathies, focusing on diseases such as episodic ataxias and non-dystrophic myotonic disorders. This consortium is one of the original network groups. As a result of his consortium's outstanding work, it has been awarded additional federal funding for two more years.

MDA has provided vital funding to support Griggs' work for over 20 years.

In addition, Dr. Chester B. Whitley, of the University of Minnesota, has been named the principal investigator for the Lysosomal Storage Disease Consortium. The consortium includes an aggressive Pompe disease research initiative. Pompe disease is one of the diseases included in MDA's programs. MDA funded the basic research that led to the first specific treatment for the disease.

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Source
Muscular Dystrophy Association