Abstract
Update - Inherited Neuropathies Consortium (P05.144)
Neurology, Vol.78(Meeting Abstracts 1), pp.P05-P05.144
04/25/2012
DOI: 10.1212/WNL.78.1_MeetingAbstracts.P05.144
Abstract
Objective: To describe the progress of the Inherited Neuropathy Consortium (INC) in promoting translational research in the inherited peripheral neuropathies.
Background The INC is a Rare Disease Clinical Research Consortium (RDCRC) that is a member of the Rare Disease Clinical Research Network (RDCRN), funded by various NIH Institutes and the Office of Rare Diseases. Over the past year the North American CMT Network has merged with INC. There are currently 10 international sites with several others in queue.
Design/Methods: Projects include (1) the natural history of CMT, with particular emphasis on CMT1B, CMT2A, CMT4A, and CMT4C, (2) genetics of CMT, including genetic modifiers of CMT1A and new forms of CMT, (3) pediatric evaluation of CMT, and (4) creation and validation of a disability severity index (DSI). There is also a patient Contact Registry and a training program for new investigators.
Results: Over 1550 patients are currently enrolled the sub-projects. More than 622 patients from 20 countries have signed up for the Contact Registry directly through the web. Our exome sequencing project has found three new CMT genes or loci. We have created a CMT pediatric scoring scale that has been submitted for publication. A CMT pediatric quality of life questionnaire has been developed. The natural history study is ongoing with the goal of laying the groundwork for clinical trials in the near future. We have recently added our third fellow to the training program.
Conclusions: The INC RDCRC is actively pursuing a multidisciplinary approach to develop rational therapies for patients with inherited neuropathies. We are actively recruiting patients with all forms of CMT to be involved in the consortium as well as recruiting talented young investigators for training to become the next generation of investigators in the inherited neuropathies.
Details
- Title: Subtitle
- Update - Inherited Neuropathies Consortium (P05.144)
- Creators
- C SiskindS FeelyJ BurnsS ZuchnerD PareysonD HerrmannS SchererT BirdT LloydC SumnerS CrokerJ KrischerF MuntoniR FinkelS NealM ReillyM Shy
- Resource Type
- Abstract
- Publication Details
- Neurology, Vol.78(Meeting Abstracts 1), pp.P05-P05.144
- DOI
- 10.1212/WNL.78.1_MeetingAbstracts.P05.144
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Language
- English
- Date published
- 04/25/2012
- Academic Unit
- Molecular Physiology and Biophysics; Neurology; Iowa Neuroscience Institute; Stead Family Department of Pediatrics
- Record Identifier
- 9984072092602771
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