HNF’s Global Registry for Inherited Neuropathies (GRIN) Identifies Importance of Recognizing CMT as Pediatric Disease and the Unmet Need for Treatment

Topic:

Other

Poster Number: T397

Author(s):

Allison Moore, Hereditary Neuropathy Foundation, Joy Aldrich, Hereditary Neuropathy Foundation, Robert Moore, Hereditary Neuropathy Foundation, Courtney Hollett, Hereditary Neuropathy Foundation, Kenneth Raymond, Hereditary Neuropathy Foundation, Joshua Burns, PhD, University of Sydney School of Health Sciences, Faculty of Medicine and Health, Sydney, NSW, Austral, Kayla Cornett, PhD, University of Sydney School of Health Sciences, Faculty of Medicine and Health, Sydney, NSW, Austral, Jahannaz Dastgir, DO, Goryeb Children’s Hospital, Morristown, NJ, USA, Vamshi K. Rao, MD, Division of Neurology, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA, Aravindhan Veerapandiyan, MD, Arkansas Children’s Hospital, University of Arkansas for Medical Sciences

OBJECTIVES:
Potential upcoming CMT Pediatric trials require urgent analysis of GRIN Natural History data, developed by HNF and advisors to capture comprehensive history of CMT patients to identify CMT as a childhood disease. Pediatric patients ages 0-17 diagnosed with CMT are broadly affected with a wide spectrum of symptoms at a statistically significant rate compared to the adult cohort. CMT impacts quality of life starting in childhood.

METHODS:
This IRB-approved online survey was conducted globally from 2013Q1 to 2023Q2. Analysis focused on questions related to patient symptoms, including, “When does the patient recall CMT symptoms first started?”. A total of 1550 participants responded, selecting from a series of age bands from 0-5 years to 70+ years. Methodology involved tallying responses per age band and subsequently calculating cumulative percentages.

RESULTS
Pediatric patients ages 0-17 diagnosed with CMT are broadly affected with a wide spectrum of symptoms at a statistically significant rate when compared to the adult cohort. CMT impacts quality of life starting in childhood. 22.3% of CMT patients experienced initial symptoms during early childhood, between ages 0 and 5 years. About half (50.5%) of CMT patients had symptoms onset before the age of 16 years. 55% of symptoms were noticed by family members before official diagnosis.

CONCLUSIONS
The observed prevalence of symptom onset before age of 16 underscores urgent unmet need to treat this progressively debilitating disease upon diagnosis. These findings have important implications for design of clinical trials and identification of meaningful endpoints. It’s critical that pediatric physicians encourage enrollment of patients in GRIN.