ReviewEndocrine reviews2020
The Changing Face of Adrenoleukodystrophy.
Review in Endocrine reviews, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 70 citations in OpenAlex.
- Selective inhibition of TLR2 stimulates the maturation of oligodendroglial progenitor cells to oligodendrocytes.NeuroImmune pharmacology and therapeutics · 2026Article
- Inpatient Deaths in Pediatric Leukodystrophies.Annals of the Child Neurology Society · 2026Article
- Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort.Journal of clinical laboratory analysis · 2026Article
- From lipid function to dysfunction: Very long-chain fatty acids as emerging regulators of neuroinflammatory pathways.iScience · 2026Review
- Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.Orphanet journal of rare diseases · 2025Article
- Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Development of a rabbit model for adrenoleukodystrophy: A pilot study on gene therapy using rAAV9.Molecular therapy. Nucleic acids · 2025Article
- Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study.Orphanet journal of rare diseases · 2025Article
- AnMolecular therapy. Methods & clinical development · 2024Article
- Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study.Orphanet journal of rare diseases · 2024Article
- Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences.International journal of neonatal screening · 2024Article
- Easily misdiagnosed X-linked adrenoleukodystrophy.Italian journal of pediatrics · 2024Article
- Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Muscle-building supplement β-hydroxy β-methylbutyrate stimulates the maturation of oligodendroglial progenitor cells to oligodendrocytes.Journal of neurochemistry · 2024Article
- Article
- Emerging Role of ABC Transporters in Glia Cells in Health and Diseases of the Central Nervous System.Cells · 2024Review
- Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD).Orphanet journal of rare diseases · 2024Article
- Article
- Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.The Journal of clinical endocrinology and metabolism · 2023Article
- [Research advances in pharmacotherapy for rare diseases in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. It is a progressive condition with a variable clinical spectrum that includes primary adrenal insufficiency, myelopathy, and cerebral ALD. Adrenal insufficiency affects over 80% of ALD patients. Cerebral ALD affects one-third of boys under the age of 12 and progresses to total disability and death without treatment. Hematopoietic stem cell transplantation (HSCT) remains the only disease-modifying therapy if completed in the early stages of cerebral ALD, but it does not affect the course of adrenal insufficiency. It has significant associated morbidity and mortality. A recent gene therapy clinical trial for ALD reported short-term MRI and neurological outcomes comparable to historical patients treated with HSCT without the associated adverse side effects. In addition, over a dozen states have started newborn screening (NBS) for ALD, with the number of states expecting to double in 2020. Genetic testing of NBS-positive neonates has identified novel variants of unknown significance, providing further opportunity for genetic characterization but also uncertainty in the monitoring and therapy of subclinical and/or mild adrenal insufficiency or cerebral involvement. As more individuals with ALD are identified at birth, it remains uncertain if availability of matched donors, transplant (and, potentially, gene therapy) centers, and specialists may affect the timely treatment of these individuals. As these promising gene therapy trials and NBS transform the clinical management and outcomes of ALD, there will be an increasing need for the endocrine management of presymptomatic and subclinical adrenal insufficiency. (Endocrine Reviews 41: 1 - 17, 2020).
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.