Abstract Details

Title Natural History Baseline of Hereditary Motor Sensory Peripheral Neuropathies That Caused by Mutations in the Myelin Protein Zero

Topic Peripheral Nerve

Presentation(s) S26 - (-)

Poster/Presentation
Number 004

Objective

Background CMT1B is caused by mutations in the myelin protein zero (MPZ). CMT1B is the second most frequent form of CMT1 and causes different severity depending on the particular mutation. We wish to develop natural history data to facilitate clinical trials of patients with CMT1B.

Design/Methods We are investigating patients with CMT1B seen in the 13 centers comprising INC-RDCRC. Patient phenotypes are evaluated by the CMT neuropathy score(CMTNS) and CMTPedS outcome instruments.

Results We identified 48 patients to date with CMT1B within the first two years of INC-RDCRC; nerve conductions were in the demyelinating range for 41 and axonal range for 7. Mean age was 42 years, range 1-86 years. Eight patients (20%) had no family history of CMT. Clinical severity was varied from mild to severe. Forty patients (83%) had difficulty walking, 13 (27%) need walking assistance or support, and 6 (13%) required wheelchair. There was hearing loss in 11 (26%) and scoliosis in 10 (23%). Forty percent had infantile onset in which patients do not begin walking until they are at least 15 months of age. Most infantile onset patients were severely affected and required ambulation aids such as walkers or wheelchairs for ambulation. The ulnar motor nerve conduction was very slow (< 15 m/s) in 30%, slow (15-35 m/s) in 17%, and intermediate to normal (> 35 m/s) in 53%. The infantile onset group had higher CMTNS compare to later onset group 20 versus 10. The infantile onset group had slower ulnar motor conduction 17 versus 37, reduced ulnar motor amplitude 3 versus 6, and reduced radial sensory amplitude 6 versus 12.

Conclusions Data from this cohort of patients will provide the longitudinal data necessary to obtain natural history data for clinical trials of patients with CMT1B.

Authors/Disclosures
Oranee Sanmaneechai, MD PRESENTER	No disclosure on file
Richard S. Finkel, MD, FAAN (St. Jude Children's Research Hospital)	Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AveXis. Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catabasis. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Capricor. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for ReveraGen. Dr. Finkel has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Scholar Rock. Dr. Finkel has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elsevier. The institution of Dr. Finkel has received research support from AveXis. The institution of Dr. Finkel has received research support from Biogen. The institution of Dr. Finkel has received research support from Capricor. The institution of Dr. Finkel has received research support from Catabasis. The institution of Dr. Finkel has received research support from ReveraGen. The institution of Dr. Finkel has received research support from Roche. The institution of Dr. Finkel has received research support from Scholar Rock. Dr. Finkel has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Dr. Finkel has received intellectual property interests from a discovery or technology relating to health care. Dr. Finkel has received personal compensation in the range of $0-$499 for serving as a Speaker in workshop with National Academy of Sciences. Dr. Finkel has a non-compensated relationship as a advisor with n-Lorem Foundation that is relevant to AAN interests or activities. Dr. Finkel has a non-compensated relationship as a Board Member with EveryLife Foundation that is relevant to AAN interests or activities.
Joshua Burns, PhD (The University of Sydney)	No disclosure on file
Luke Whitmire, PhD (Brain Sentinel)	No disclosure on file
Francesco Muntoni, MD (UCL Institute of Child Health)	Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Sarepta. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Biogen. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Dr. Muntoni has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. The institution of Dr. Muntoni has received research support from European Commission. The institution of Dr. Muntoni has received research support from Medical Research Council. The institution of Dr. Muntoni has received research support from Biogen. The institution of Dr. Muntoni has received research support from Muscular Dystrophy UK. The institution of Dr. Muntoni has received research support from MDA USA. The institution of Dr. Muntoni has received research support from Sarepta. The institution of Dr. Muntoni has received research support from Association Francoise Myopathies. Dr. Muntoni has received personal compensation in the range of $0-$499 for serving as a Clinical expert with UK NICE Committee.
Steven Scherer, MD	Dr. Scherer has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Pfizer. Dr. Scherer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Takeda. Dr. Scherer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Toray Industries. Dr. Scherer has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Applied Therapeutics. Dr. Scherer has received personal compensation in the range of $100,000-$499,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Disarm Therapeutics. Dr. Scherer has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Mitochondria in Motion. The institution of Dr. Scherer has received research support from NIH .
	No disclosure on file
Mary Reilly, MD, FRCP, FRCPI (National Hospital for Neurology and Neurosurgery)	The institution of Mary Reilly, MD, FRCP, FRCPI has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alynlam. Mary Reilly, MD, FRCP, FRCPI has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AKCEA. Mary Reilly, MD, FRCP, FRCPI has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Inflectis. The institution of Mary Reilly, MD, FRCP, FRCPI has received research support from MRC. The institution of Mary Reilly, MD, FRCP, FRCPI has received research support from NIH. The institution of Mary Reilly, MD, FRCP, FRCPI has received research support from MDA.
Michael E. Shy, MD, FAAN (University of Iowa)	Dr. Shy has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Applied Therapeutics. The institution of Dr. Shy has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for DTx Pharma. The institution of Dr. Shy has received research support from NIH. The institution of Dr. Shy has received research support from Muscular Dystrophy Association. The institution of Dr. Shy has received research support from Charcot Marie Tooth Association. The institution of Dr. Shy has received research support from Applied Therapeutics.

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