Natural History Study Assessment of CMT patients to Support Virtual Clinical Studies

by | Mar 13, 2021 | 0 comments

Natural History Study Assessment of CMT patients to Support Virtual Clinical Studies

HNF is excited to announce that the Orphan Disease Center awards Florian P. Thomas, MD, MA, PhD, MSc, Director, Hereditary Neuropathy Center, Hackensack University Medical Center, Founding Chair & Professor, Department of Neurology, Hackensack Meridian School of Medicine and his team at Hackensack Meridian Health the Million Dollar Bike Ride (MDBR) 2020 CMT grant. This is HNFs second year participating in the annual MDBR to advance research for Rare Diseases. The 2020 event was virtual and HNF exceeded its goal of $25,000 and raised $27,545 which was matched by the ODC, with the total award in the amount of $55,090.

The grant title: Global Registry for Inherited Neuropathies (GRIN) – Natural History

Study Data Assessment of Charcot-Marie-Tooth (CMT) Patients to Support Virtual Clinical Studies

The goal of the project is to evaluate years of collected patient-reported data and to correlate the findings to specific cohorts to include genotype, phenotype and clinical features. The findings will support the foundation’s enhanced virtual natural history studies and validate outcome measures, identify potential biomarkers and support therapeutic research and trials.

SPECIFICALLY, THE AIMS ARE TO: 

  1. Evaluate GRIN data to uncover previously unknown genotype/ phenotype correlations among patients. 
  2. Determine if there are additional early signs of CMT in patients that should be targeted for further research and therapeutic development. 
  3. Improve diagnostic accuracy and timing (i.e. catch it when they are young and interventions can be more impactful). 
  4. Disseminate findings through peer-review publications.

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