Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study.

ABSTRACT:

Objectives

Friedreich ataxia (FRDA) is a rare genetic disorder caused by mutations in the FXN gene, leading to progressive coordination loss and other symptoms. The recently approved omaveloxolone targets this condition but is limited to patients over 16 years of age, highlighting the need for pediatric treatments due to the disorder's early onset and more rapid progression in children. This population also experiences increased non-neurological complications; the FACHILD study aimed to augment and expand the knowledge about the natural history of the disease and clinical outcome assessments for trials in children in FRDA.

Methods

The study enrolled 108 individuals aged 7-18 years with a confirmed FRDA diagnosis, with visits occurring from October 2017 to November 2022 acros

SUBMITTER: Rummey C 

PROVIDER: S-EPMC11093230 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature