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Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a

Saskia Koene1, Lara van Bon2, Enrico Bertini3

  • 1Radboud Center for Mitochondrial Medicine, Department of Paediatrics, Radboudumc, Nijmegen, The Netherlands. Saskia.koene@radboudumc.nl.

Journal of Inherited Metabolic Disease
|July 21, 2018
PubMed

Insights

This study proposes standardized outcome measures for pediatric mitochondrial diseases. These measures are crucial for upcoming clinical trials evaluating new treatments for mitochondrial myopathy and encephalopathy.

Area of Science:

  • Pediatric Neurology
  • Rare Diseases
  • Mitochondrial Medicine

Background:

  • Mitochondrial diseases lack effective disease-modifying therapies, necessitating robust clinical trials.
  • Sensitive and valid outcome measures are critical for assessing treatment efficacy in rare pediatric mitochondrial disorders.
  • Current consensus on outcome measures for children with mitochondrial disease is lacking.

Framework:

  • A two-day Delphi-based workshop convened experts to address this need.
  • The workshop aimed to define a protocol for an international, multi-center natural history study in pediatric mitochondrial myopathy.
  • It also focused on selecting appropriate outcome measures for a validation study in pediatric mitochondrial encephalopathy.

Implementation:

  • The study proposes two distinct sets of outcome measures.
  • These sets are tailored for a natural history study in children with mitochondrial myopathy.
  • They are also designed for a proposed validation study in children with mitochondrial encephalopathy.

Implications:

  • Standardized outcome measures will facilitate more reliable and comparable clinical trial results.
  • This work supports the development of effective treatments for rare pediatric mitochondrial diseases.
  • It provides a foundation for future research and therapeutic advancements in the field.

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