ArticleEuropean journal of pediatrics2011
Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes.
Article in European journal of pediatrics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
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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
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2025Guideline
- Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.The New England journal of medicine · 2017Trial
- No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy.Bone marrow transplantation · 2012Trial
- Attitudes Toward Sex-Specific Versus Universal Newborn Screening for X-Linked Adrenoleukodystrophy in Hong Kong.International journal of neonatal screening · 2026Article
- Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial.EClinicalMedicine · 2025Article
- Cerebral adrenoleukodystrophy presenting as status epilepticus: Unveiling the neurological maze.Radiology case reports · 2025Article
- [Adrenal insufficiency as part of X-linked adrenoleukodystrophy].Problemy endokrinologii · 2023Observational
- Current Screening Strategies for the Diagnosis of Adrenal Insufficiency in Children.Pediatric health, medicine and therapeutics · 2023Review
- Recurrent episodes of vomiting and diarrhoea in a male child: a rare presentation of X-linked adrenoleukodystrophy.BMJ case reports · 2022Article
- Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy.Journal of the Endocrine Society · 2022Article
- Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal AntibodiesJournal of clinical research in pediatric endocrinology · 2021Article
- Hormonal dysfunction in adult patients affected with inherited metabolic disorders.Journal of mother and child · 2020Review
- Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.Frontiers in cell and developmental biology · 2020Article
- Clinical characteristics and phenotype distribution in 10 Chinese patients with X-linked adrenoleukodystrophy.Experimental and therapeutic medicine · 2019Article
- Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy.Scientific reports · 2019Article
- X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2019Article
- Hematopoietic Stem Cell Gene Therapy for Storage Disease: Current and New Indications.Molecular therapy : the journal of the American Society of Gene Therapy · 2017Review
- Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases.Journal of clinical research in pediatric endocrinology · 2016Article
- Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China.Metabolic brain disease · 2015Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Approximately one third of boys with X-linked adrenoleukodystophy (X-ALD) develop an acute, progressive inflammatory process of the central nervous system, resulting in rapid neurologic deterioration and death. Hematopoietic cell transplantation (HCT) can halt the progression of neurologic disease if performed early in the course of the cerebral form of X-ALD. We describe a retrospective cohort study of 90 boys with X-ALD evaluated at our institution between 2000 and 2009, to determine if early diagnosis of X-ALD following the diagnosis of unexplained adrenal insufficiency (AI) improves outcomes. We describe seven cases with a delay in the diagnosis of X-ALD and compare their outcomes to ten controls with the diagnosis of ALD made within 12 months following diagnosis of AI. At the time of evaluation for HCT, boys with a delay in the diagnosis of X-ALD had more extensive cerebral involvement and more limited functioning. These boys also were 3.9 times more likely to die and had significant advancement of cerebral disease after HCT, compared with boys with a timely diagnosis of X-ALD. In conclusion, the early diagnosis of cerebral X-ALD following the diagnosis of unexplained AI, and subsequent treatment with HCT improves both neurological outcomes and survival in boys with cerebral X-ALD.
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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.