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ORPHA:43

X-linked adrenoleukodystrophy

medium confidenceDisorder

Also known as: ALD · X-ALD · X-linked ALD

Publications

3,122

94.9th percentile

Trials

14

Interventional, condition-specific

Researchers

1,120

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare peroxisomal disorder characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), myelopathy, peripheral and, variably, leukodystrophy.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    3,122 matched papers (1,641 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    14 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

3,122

3,122 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

3,122 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

1,641 in the last 10 years · medium confidence · 94.9th percentile (publications denominator)

Phrase hits: 3,122 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,120

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Engelen M9 papers · 2026

    Department of Pediatric Neurology, Amsterdam Public Health, Amsterdam University Medical Center, Amsterdam, the Netherlands.

    Papers in Europe PMC
  2. 02
    Eichler F7 papers · 2026

    Massachusetts General Hospital, Department of Neurology, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  3. 03
    Lund TC7 papers · 2026

    Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55454, USA.

    Papers in Europe PMC
  4. 04
    Köhler W6 papers · 2026

    Department of Neurology, Leukodystrophy Clinic, University of Leipzig Medical Center, Leipzig, Germany.

    Papers in Europe PMC
  5. 05
    van Haren KP6 papers · 2026

    Department of Neurology, Stanford University School of Medicine, Stanford, CA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.

    Papers in Europe PMC
  6. 06
    Berger J5 papers · 2026

    Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, 1090 Vienna, Austria.

    Papers in Europe PMC
  7. 07
    Bonkowsky JL5 papers · 2026

    Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT; Center for Personalized Medicine, Primary Children's Hospital, Salt Lake City, UT.

    Papers in Europe PMC
  8. 08
    Fatemi A5 papers · 2026

    Moser Center for Leukodystrophies, Kennedy Krieger Institute, Baltimore, MD.

    Papers in Europe PMC
  9. 09
    Kaur N5 papers · 2025

    Department of Neurology, Henry Ford Health, Detroit, MI, USA.

    Papers in Europe PMC
  10. 10
    Kemp S5 papers · 2026

    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

14 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.1th percentile).

medium confidence · 93.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

14 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

12 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 1.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"X-linked adrenoleukodystrophy" OR "X-ALD" OR "X-linked ALD"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"X-linked adrenoleukodystrophy" OR "X-ALD" OR "X-linked ALD"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 14 interventional · 12 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ALD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:12:38.542Z