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Updated: Dec 22, 2025
07:45
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
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The Changing Face of Adrenoleukodystrophy.
Jia Zhu1, Florian Eichler2,3, Alessandra Biffi3,4,5,6
1Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts.
Endocrine Reviews
|May 5, 2020
Summary
Newborn screening for Adrenoleukodystrophy (ALD) identifies infants early, enabling timely gene therapy or stem cell transplants. This approach offers better outcomes than traditional treatments for this rare X-linked disorder.
Area of Science:
- Genetics and rare diseases
- Endocrinology
- Neurology
Background:
- Adrenoleukodystrophy (ALD) is a rare X-linked peroxisomal disorder caused by ABCD1 mutations.
- It presents with adrenal insufficiency, myelopathy, and cerebral ALD, impacting over 80% of patients with adrenal issues.
- Cerebral ALD is a rapidly progressive, fatal condition in children without early intervention.
Purpose of the Study:
- To review the evolving landscape of Adrenoleukodystrophy (ALD) management.
- To highlight the impact of newborn screening (NBS) and emerging gene therapies.
- To emphasize the growing need for endocrine management in early-stage ALD.
Main Methods:
- Review of current literature on ALD treatments, including hematopoietic stem cell transplantation (HSCT) and gene therapy.
- Analysis of the implications of expanded newborn screening (NBS) for ALD.
- Discussion of the challenges and opportunities in managing ALD patients identified at birth.
Main Results:
- Gene therapy trials show outcomes comparable to HSCT but with fewer adverse effects.
- Newborn screening (NBS) is expanding, identifying infants with ALD earlier.
- Early identification presents challenges in genetic characterization and managing subclinical disease.
Conclusions:
- Gene therapy and NBS are transforming ALD clinical management and outcomes.
- There is an increasing need for endocrine specialists to manage presymptomatic and subclinical adrenal insufficiency in newborns.
- Timely access to treatment centers and specialists remains critical for optimal outcomes in ALD.
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