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ORPHA:43

X-linked adrenoleukodystrophy

medium confidenceDisorder

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

Publications

3,122

89.7th percentile

Trials

14

Interventional, condition-specific

Researchers

1,075

Distinct authors in sample

Gene link

—

Readiness

3/6

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.”

3/6 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 found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    3 FDA designations (3 FDA orphan-indication approvals) — e.g. hydroxypioglitazone Source

  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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

3

Designations · 3 with FDA orphan-indication approval

  • FDA hydroxypioglitazoneX-Linked Adrenoleukodystrophy · 2017-01-30 · Not FDA Approved for Orphan Indication
  • FDA ((4-(3-benzyl-4-hydroxybenzyl)-3,5-dimethylphenoxy)methyl)phosphonic acidX-Linked Adrenoleukodystrophy · 2016-12-05 · Not FDA Approved for Orphan Indication
  • FDA sobetiromeX-Linked Adrenoleukodystrophy · 2011-04-29 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

3,122 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,641 in the last 10 years · medium confidence · 89.7th percentile (publications denominator)

Phrase hits: 3,122 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,075

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 M13 papers · 2026

    Department of Pediatric Neurology, Amsterdam UMC, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, University of Amsterdam, Amsterdam, Netherlands.

    Papers in Europe PMC
  2. 02
    Köhler W10 papers · 2026

    Department of Neurology, University Hospital Leipzig, Leipzig, Germany.

    Papers in Europe PMC
  3. 03
    Moser AB9 papers · 2026

    Department of Neurogenetics, Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland, USA.

    Papers in Europe PMC
  4. 04
    Fatemi A8 papers · 2026

    Department of Neurogenetics, Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland, USA.

    Papers in Europe PMC
  5. 05
    Kemp S8 papers · 2026

    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, Amsterdam Gastroenterology & Metabolism, University of Amsterdam, Amsterdam, Netherlands.

    Papers in Europe PMC
  6. 06
    Berger J7 papers · 2023

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

    Papers in Europe PMC
  7. 07
    Eichler FS7 papers · 2026

    Department of Neurology, Massachusetts General Hospital, 175 Cambridge Street, Suite 340, Boston, MA, 02114, USA. feichler@partners.org.

    Papers in Europe PMC
  8. 08
    Forss-Petter S7 papers · 2023

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

    Papers in Europe PMC
  9. 09
    Kaur N7 papers · 2025

    Poxel SA, Lyon, France (P.-A.M., P.T., P.G.D., P.F., S.B., D.E.M., S.H.-B.) and Departments of Neurology (P.P., N.K., J.S.) and Neurosurgery (T.N.N.), Henry Ford Health System, Detroit, Michigan.

    Papers in Europe PMC
  10. 10
    Singh J7 papers · 2025

    Poxel SA, Lyon, France (P.-A.M., P.T., P.G.D., P.F., S.B., D.E.M., S.H.-B.) and Departments of Neurology (P.P., N.K., J.S.) and Neurosurgery (T.N.N.), Henry Ford Health System, Detroit, Michigan.

    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 11 September 2026

14 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.7th percentile).

medium confidence · 93.7th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (3)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for X-linked adrenoleukodystrophy — check Associations / patient organisations on that page.

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