# Living with adrenoleukodystrophy: adult patient and caregiver perspectives

## TL;DR

This study highlights the challenges faced by adults living with adrenoleukodystrophy and their desire for better treatments and involvement in research.

## Contribution

The paper presents insights from a patient-focused meeting on adult adrenoleukodystrophy, emphasizing the need for new treatments and patient involvement.

## Key findings

- Adult ALD patients commonly experience balance issues, altered gait, and spasticity.
- Most patients fear disease progression and lack effective treatments for symptom management.
- Patients express a strong desire to participate in treatment development and clinical trials.

## Abstract

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.

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.

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.

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.

The online version contains supplementary material available at 10.1186/s13023-025-04130-3.