Initial results of the “Adult polyglucosan disease” register

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The Columbia University team publishes data collected since 2014 in the Columbia University APBD Registry (CAP ) and filled in by patients with adult polyglucosan disease:

  • out of 126 respondents, 96 met the inclusion criteria: being 18 years of age or older and presenting with a progressive triad of peripheral neuropathy, spasticity and neurologic bladder ;
  • the median age at onset of the disease was 51, with an age at diagnosis of 57;
  • peripheral neuropathy and spinal stenosis were the most common misdiagnoses;
  • Most were of Ashkenazi Jewish origin (85.1%).

The aim is to set up a prospective natural history study of this ultra-rare disease and to identify key follow-up parameters for evaluating future treatments.

 

A United States-based patient-reported adult polyglucosan body disease registry: initial results. Sparks J, Michelassi F, Thompson JLP et al. Ther Adv Rare Dis. 2024 Mar 4;5:26330040241227452.

 

APBD Research Foundation [Online] [Visited on 29/03/2024]

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