POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.

ABSTRACT:

Background

POLR3-related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, inherited neurodegenerative disorder affecting white matter development of the central nervous system. This disorder is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism (4H leukodystrophy). Patients with POLR3-HLD require complex and specialized care; however, due to its rarity and limited awareness, parents often assume additional roles as experts and advocates for their child(ren). We aimed to understand parents' experiences navigating the health care landscape and to identify potential targets for improvement.

Methods

Research team members conducted semi-structured interviews with parents of patients with POLR3-HLD. Interview questions focused on the diagnostic od

SUBMITTER: Le A 

PROVIDER: S-EPMC12289442 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature