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Disease

Adrenoleukodystrophy

Late-stage therapeutic developmentEmerging research
2
Publications
18
Clinical trials
1
Related proteins
2020
Latest publication
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.

Research2020-01-26International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Clinical trials

12 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
18
All trials
4
Active
5
Late-stage
6
Completed
Late-stage studies
Recently completed

Research activity

2 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20092020
Most influential

X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2020 · 128 cites
Recent publications

X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2020 · 128 cites
Major themes3
  • Genetic Therapy1
  • Genetic Vectors1
  • Hematopoietic Stem Cell Transplantation1
Leading journals2
  • International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience1
  • Science (New York, N.Y.)1
Leading researchers8
  • Abel U1
  • Aubourg P1
  • Audit M1
  • Bartholomae CC1
  • Bellesme C1
  • Blanche S1
  • Bougnères P1
  • Caccavelli L1
Affiliations (unnormalised)3
  • Hugo W Moser Research Institute1
  • Royal Women's Hospital1
  • University Paris-Descartes1

Disease biology

1 match

Key proteins & gene products studied in this disease. Number shows shared papers.

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.