Progression of SMA

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The purpose of this study is to collect data from routine standard of care visits of SMA patients at the Children's Hospital of Philadelphia Neuromuscular Clinic. This data will be used to characterize the baseline status of newly diagnosed SMA patients and to evalaute the long term progression of SMA. Eligibility includes clinical diagnosis of Spinal Muscular Atrophy, genetic diagnosis of SMN, informed consent and diagnosis of SMA before the age of 19. Study visits occur during regular standard of care clinic visits. Study procedures include neuromuscular testing, optional surveys/interviews and optional biological specimens., Please contact Principal Investigator Zarazuela Zolkipli Cunningham, MBChB, MRCP at 215-590-1719 or Study Coordinator Nancy Videon, RN at 267-426-7163 for more information.

Eligibility & Criteria

IRB #:
10-007816
Study Phase:
Not Applicable
Eligible Age Range:
Any
Gender:
All
Study Categories:

Leader

Zarazuela Zolkipli-Cunningham, MBChB, MRCP