Friedreich ataxia (FRDA) is a rare hereditary condition characterized by a continuous decline in coordination and stability, often diagnosed in children or teenagers. The condition arises from alterations in the FXN gene, leading to a deficiency in frataxin, a protein essential for mitochondrial activity. The recent approval of omaveloxolone for patients aged 16 and above underscores the need for pediatric trials, given the early manifestation and profound progression of FRDA in children.
The FACHILD study aimed to address gaps in understanding pediatric FRDA by focusing on children under 18, including biannual assessments and evaluation of new measures relevant to children. The study utilized the modified Friedreich Ataxia Rating Scale (mFARS) to assess disease status and progression. However, the COVID-19 pandemic affected data collection, leading to the introduction of virtual visits, which did not allow for mFARS score administration. Despite these challenges, the study managed to collect complete mFARS data for 89% of total visits.
Results from the FACHILD study indicate that children with FRDA experience rapid disease progression, with the mFARS score capturing this progression effectively. The study found that FARS E (Upright Stability) was the most consistent subscore and the main driver of progression, suggesting it may be the best descriptor of disease progression in children. The study also highlighted the variability in FARS B (Upper limbs) scores, indicating potential issues with the sensitivity of mFARS in pediatric populations.
The study's findings emphasize the importance of developing tools and outcome measures specifically adapted for children with FRDA. It also calls for further research into the impact of genetic and demographic factors on disease progression and the need for inclusive clinical trials that consider the unique phenotypes of children with FRDA, including those compound heterozygous for FXN mutations.
In conclusion, the FACHILD study provides valuable insights into the progression of FRDA in children and the challenges in assessing disease status using mFARS. It underscores the need for pediatric-specific outcome measures and the importance of FARS E in predicting disease progression. The study also highlights the impact of external factors, such as the COVID-19 pandemic, on clinical research and the potential benefits of virtual visits in specific situations.