Pediatric Multiple Sclerosis – Characterizing a Rare Disease

This study provides some insight into how one approaches understanding a relatively rare disease, using standardized disease scoring and monitoring logged into large registries.

Source: Iaffaldano P, Simone M, Lucisano G, et al. Prognostic indicators in pediatric clinically isolated syndrome. Ann Neurol. 2017;81(5):729–739; doi:10.1002/ana.24938. See AAP Grand Rounds commentary by Dr. David Urion (subscription required).

Oh, and did I mention this is one of the most complex statistical analyses for a study I’ve reviewed on these pages in the last 7 years? Don’t worry, I won’t get you too bogged down in the details!

This study struck me as very illustrative of how researchers approach gathering information about relatively rare diseases. Any meaningful data ideally would involve a large number of participants, so for rare diseases that would involve multiple centers. It’s tough to coordinate that for a prospective randomized controlled trial of a treatment intervention, but maybe a bit easier (still tough!) to gather data. That’s usually done by having national or international disease registries, where clinicians can enter selected data about their patients, ultimately to be analyzed and reported by a central coordinating team.

The current study pertained to “pediatric Clinically Isolated Syndrome (pCIS),” defined as a “monofocal or multifocal clinical central nervous system event of presumed inflammatory demyelinating cause with acute or subacute onset in the absence…