The content of this site draws on the resources below. They are worth going to directly if you want to read further or check a source.
ALD Info
Written and maintained by ALD researchers and clinicians. It began as x-ald.nl in 1999 and moved to its present address in 2017 — the longest-standing and most trusted information resource in the field.
Its editorial board:
| Stephan Kemp | Professor, Amsterdam University Medical Center. 25+ years in ALD research, 100+ publications |
| Marc Engelen | Head of Paediatrics, Amsterdam UMC. First author of the 2022 international consensus recommendations |
| Julie Cohen | Director of Genetic Counseling Services, Kennedy Krieger Institute; Associate Professor, Johns Hopkins |
| Rachel Salzman | Chief Scientific Officer, Stop ALD Foundation |
| Virginie Bonnamain | Clinical scientist, rare disease and cell & gene therapy |
Much of the evidence base for this site traces back here. The clinician who led the consensus recommendations we use as our baseline sits on its editorial board.
What it holds
- Clinical & Diagnosis — disease overview, newborn screening, clinical presentations
- Treatment options — adrenal insufficiency management, haematopoietic stem cell transplantation, gene therapy
- Variants & Biochemistry — genetic and biochemical background
- Translations in Spanish, German, French and Dutch
ABCD1 Variant Registry
If you have had genetic testing, you can look your variant up here.
Created in 1999 by Stephan Kemp and Hugo Moser, the registry collects ABCD1 variants reported worldwide. It is free and publicly searchable, with CSV export.
Why it is useful
Genetic testing sometimes returns a variant of uncertain significance (VUS) — a change whose relationship to disease is unclear. The registry aggregates cases from around the world and classifies variants on a scale from benign to pathogenic, which helps resolve that question.
Newly identified variants can be submitted, so that the next person who encounters the same change has a clearer answer.
One thing to hold onto
ABCD1 variants have no predictive value for the clinical outcome of an individual patient.
This is stated by the registry itself. Knowing the variant does not tell you whether cerebral disease will develop, or when symptoms will come. That is why ongoing surveillance is necessary.
→ Why it happens, and why it differs between people
ALD Connect
A patient-centred research network in the United States, bringing together patients, families, clinicians, researchers and industry, with the aim of carrying the patient voice into research and policy.
What it holds
- What is ALD? — by phenotype (newborn screening / asymptomatic, adrenal insufficiency, cerebral ALD, AMN, symptomatic women)
- Clinical Trials & Research — trial listings, research funding, a collaborative research network
- Resources — financial assistance, mental health, a peer mentor programme, webinars
- Get Involved — annual meeting, family weekend, community calls
Its account of the standard of care in cerebral ALD is unusually detailed — MRI surveillance intervals, transplantation, gene therapy and the options open to adult patients, all on one page. → Cerebral ALD — Standard of Care
Its support programmes for patients and families are particularly well developed — the peer mentor programme, which connects people in similar circumstances, and its mental health material.
The structure of this site owes a good deal to ALD Connect.
Other organisations
| Organisation | Country | |
|---|---|---|
| ALD Life | UK | Patient and family support, practical guidance |
| Stop ALD Foundation | USA | Focused on accelerating research |
| ALD Alliance | USA | Newborn screening advocacy |
| United Leukodystrophy Foundation | USA | Leukodystrophies generally |
| ELA International | Europe | Leukodystrophies generally, European advocacy |
| a future | Japan | Japanese ALD patient organisation |
Finding clinical trials
ClinicalTrials.gov — the US National Institutes of Health registry. Searching adrenoleukodystrophy returns trials running worldwide.
→ The main trials are summarised on our Clinical Trials page.
The evidence base
The baseline for the medical content on this site.
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach Neurology, 2022 · DOI: 10.1212/WNL.0000000000201374
Thirty-nine recommendations agreed by ALD experts worldwide. The full text is free to read (CC BY 4.0).
Last reviewed: 10 August 2026