9 clinician-scientists, experts in CACH Syndrome, met in a consortium. They represent the countries of the International Council for Harmonization–Good Clinical Practice guidelines.

CACH Syndrome is a genetic disease of the hypomyelinizing leukodystrophy family, with a progressive degradation of the white matter of the brain. There is no treatment at this time and only symptomatic care is currently offered. The low numbers of known patients, the unpredictable course of the disease and the absence of biomarkers, complicate clinical trials on CACH Syndrome.

Experts, in collaboration with family organizations, including ELA International, have share their knowledges of the disease in order to establish recommendations to improve and accelerate diagnosis, initiate clinical trials and improve patient recruitment.

These recommendations have been published in the Neurology Genetics journal.

Van der Knaap et al. 2022. Neurol. Genet.

This teamwork provides recommendations for:

  • Improving diagnosis of the disease
  • Facilitating Biomarker studies
  • Developing clinical trial guidelines
  • Supporting development of new therapies

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