POLR3 related leukodystrophy
https://www.sciencedirect.com/science/article/abs/pii/S0887899425002875
TUBB4A-related leukodystrophy (TUBB4A-LD) is a rare inherited white matter disorder characterised by progressive developmental and motor dysfunction influenced by genotype and age of onset. This study aimed to better understand how the disease affects families and identify Clinical Outcome Assessments (COAs) to optimise future clinical trial designs. The cohort included 58 caregivers of 58 children with TUBB4A-LD. Participants completed several standardised questionnaires evaluating children’s daily skills, motor and communication abilities (VABS-3, PedsQL, HRQOL), and the emotional and physical impact on families (CPCHILD, CareQoL). Results showed that affected children preserve communication and social skills for a longer period than motor skills. To improve their children’s quality of life, caregivers prioritised comfort, health and communication. Families also reported high emotional suppression and feelings of loss related to their child’s condition. The authors found that CPCHILD and PedsQL tools most effectively captured the challenges faced by patients and caregivers and suggested these measurements could be valuable for assessing treatment outcomes in future clinical trials. Although larger sample sizes are needed to validate these COAs for progressive diseases like TUBB4A-LD, the findings highlight the importance of including caregiver and patient perspectives when developing support programs and clinical trials for TUBB4A-LD.