Recommendations for management

International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach

In 2022, a consensus-based modified Delphi approach, a structured communication technique used to reach consensus among a panel of experts through multiple rounds of questionnaires and feedback, was conducted among 28 international ALD experts to develop best practice recommendations for the diagnosis, clinical surveillance, and management of patients with ALD.

Figure 1: The Delphi approach consisted of two rounds of questionnaires and a consensus meeting. In the first round of questionnaire, experts rated their agreement with statements derived from the clinical questions on a 9-point scale (1: “strongly disagree” and 9: “strongly agree”). Consensus was defined as more than 80% of the experts rating their agreement between 7 and 9 or their disagreement between 1 and 3.

The experts identified 39 discrete areas of consensus, including screening, treatment and management of cerebral ALD, myeloneuropathy, adrenal insufficiency, and dietary therapy, addressing a clinical need in the ALD community worldwide as the number of diagnoses and presymptomatic individuals increases due to newborn screening and the greater availability of next-generation sequencing. The poor ability to predict disease course and progression informs current surveillance intervals but is subject to change as more data become available. This knowledge gap should guide future research and once again illustrates that international collaboration among physicians, researchers, and patients is essential to improve care.
The full publication in Neurology is freely available.

Figure 2: Overview of the Management of Patients With ALD.

Last modified | 2024-06-22