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

Publication date: Mar 31, 2024

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. The study enrolled 108 individuals aged 7-18 years with a confirmed FRDA diagnosis, with visits occurring from October 2017 to November 2022 across three institutions. Several measures were introduced to minimize the impact of the COVID-19 pandemic, including virtual visits. Outcome measures centered on the mFARS score and its subscores, and data were analyzed using mixed models for repeated measures. For context and to avoid misinterpretation, the analysis was augmented with data from patients enrolled in the Friedreich’s Ataxia Clinical Outcome Measures Study. Results confirmed the general usefulness of the mFARS score in children, but also highlighted issues, particularly with the upper limb subscore (FARS B). Increased variability, limited homogeneity across study subgroups, and potential training effects might limit mFARS application in clinical trials in pediatric populations. The FARS E (Upright Stability) score might be a preferred outcome measure in this patient population.

Concepts Keywords
Genetic Ataxia
Models Children
October Clinical
Pandemic Disorder
Pediatric Fachild
Frda
Friedreich
Increased
Limited
Mfars
Outcome
Pediatric
Population
Score
Study

Semantics

Type Source Name
disease MESH Friedreich’s ataxia
disease MESH genetic disorder
disease VO gene
drug DRUGBANK Omaveloxolone
disease VO population
disease MESH complications
disease IDO history
disease MESH COVID-19 pandemic

Original Article

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