10/8/2009: CMTA Announces Partnership with INC and Rare Disease Clinical Research NetworkThe CMTA is proud to announce its partnership with the newly created Inherited Neuropathies Consortium (INC) in conjunction with the National Institutes of Health’s Rare Diseases Clinical Research Network and Wayne State University. Led by CMTA Medical Director Michael E. Shy, MD, the INC is one of 19 newly funded consortia that will receive approximately $117 million over the next 5 years from the NIH. The INC will be comprised of a global team of scientists from the following institutions:
Wayne State University
University of Pennsylvania
National Hospital for Neurology and Neurosurgery-London, England
Dubowitz Neuromuscular Centre in the University College of London Institute of Child Health
Miami Institute of Human Genomics, University of Miami Miller School of Medicine
University of Rochester School of Medicine
Goals and Objectives of the Inherited Neuropathies Consortium:
Despite the advances in identifying the genes that cause CMT and in understanding the molecular organization of the Peripheral Nervous System, there are no effective treatments for any type of CMT. Clinical trials are now underway for CMT1A, the most common form of CMT. However, natural history data is lacking for most other forms of inherited neuropathies. To perform natural history studies will require carefully analyzing patients with different kinds of CMT in a uniform manner so that high quality clinical data is available to investigators developing clinical trials or studying the pathogenesis of CMT in humans. It will also be necessary to identify genetic modifiers that contribute to phenotypic variability in patients with identical CMT mutations, even within the same family. Finally, there is a need to provide easily available information to patients and their physicians about the various forms of CMT. This is particularly challenging since there are so many different genes and different phenotypes within the CMT population.
The INC will address these issues through the creation and maintenance of a multi-center consortium of investigators with (1) demonstrated expertise in investigating and treating patients with inherited neuropathies, (2) expertise in identifying the genetic causes of the different types of CMT, and (3) experience in interacting with patient support groups directly involved with CMT.
The INC will conduct three Clinical Research Projects and three Pilot Projects.
INC Clinical Research Projects:
- Perform natural history studies on CMT1B, CMT2A,CMT4A and CMT4C
- Identify genetic factors that cause and modify Charcot-Marie-Tooth neuropathies
- Establish a Website Resource for the inherited neuropathies for patients, families and investigators
INC Pilot Projects:
- Establish a scoring system for quantifying impairment in young children with various forms of CMT
- Test the pediatric scoring system created in Pilot Project 1 in a two year natural history study of children with various types of CMT1, CMT2 and CMT4
- Develop a Phase I trial using compounds to treat selected patients with early onset CMT
To learn more about the Rare Diseases Clinical Research Network (RDCRN), please click here.
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