Living with adrenoleukodystrophy: adult patient and caregiver perspectives.

INTRODUCTION: Adrenoleukodystrophy (ALD) is a rare, X-linked disease caused by pathogenic ABCD1 gene variants, resulting in heterogeneous and debilitating conditions. We report on an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting involving patients and caregivers, Food and Drug Administration representatives, and physicians to hear the patient’s voice regarding living with adult manifestations of ALD. METHODS: Adult patients with ALD and/or caregivers were invited to the EL-PFDD to discuss the impact of living with ALD and their desires for future treatment/management. RESULTS: On July 22, 2022, the virtual EL-PFDD meeting took place with 254 individuals, including 153 adult patients with ALD and/or caregivers. Men and women with ALD suffer from many health conditions with top concerns being balance issues (81%), altered gait (67%), and spasticity (67%). Disease impact on daily activities was significant; 69% had issues with walking, playing sports (45%), and sleeping (41%). Overall, 88% of respondents feared their condition worsening, being unable to walk (61%), and developing cerebral ALD (39%). There are no disease-specific treatments for adults; patients used various medications and physical therapies for symptom management, with either ‘very little’ (39% respondents) or ‘somewhat’ (44% respondents) of a response; 10% received no relief with treatments. In the future, patients want to be involved in treatment development and clinical trials. CONCLUSION: ALD is a progressive disease that can be life-limiting. There is an urgent need to develop treatments that will either slow, halt, or cure adult manifestations of ALD, and men and women are eager to be involved in studies.