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ORPHA:139399

Adrenomyeloneuropathy

low confidenceSubtype of disorder

Publications

1,721

Trials

15

Interventional, condition-specific

Researchers

1,154

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by myelopathy and peripheral , and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

AMN · adrenomyeloneuropathy

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

    1,721 matched papers (830 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Peripheral axonal degeneration; Abnormal spinal cord morphology; Distal sensory impairment) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    15 matched on ClinicalTrials.gov (2 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)

49

Associated phenotypes · MONDO:0015339

  • Peripheral axonal degeneration
  • Abnormal spinal cord morphology
  • Distal sensory impairment
  • Abnormal circulating fatty acid concentration
  • Progressive spastic paraparesis

Showing 5 of 49 — open Monarch for the full list.

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

9

Drugs / clinical candidates · MONDO_0015339

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,721

1,721 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.

1,721 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).

830 in the last 10 years · low confidence

Phrase hits: 1,721 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,154

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
    Eichler F10 papers · 2026

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

    Papers in Europe PMC
  2. 02
    Engelen M9 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Fatemi A9 papers · 2026

    Kennedy Krieger Institute, Baltimore, Maryland, USA.

    Papers in Europe PMC
  4. 04
    Köhler W7 papers · 2026

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

    Papers in Europe PMC
  5. 05
    Eichler FS6 papers · 2026

    Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: feichler@partners.org.

    Papers in Europe PMC
  6. 06
    Li C6 papers · 2025

    HKUMed Laboratory of Cellular Therapeutics, the University of Hong Kong, Hong Kong.

    Papers in Europe PMC
  7. 07
    Li Y6 papers · 2026

    Hugo W. Moser Research Institute at Kennedy Krieger, Baltimore, MD 21205, USA.

    Papers in Europe PMC
  8. 08
    Salsano E6 papers · 2026

    Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy. ettore.salsano@istituto-besta.it.

    Papers in Europe PMC
  9. 09
    Singh J6 papers · 2025

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

    Papers in Europe PMC
  10. 10
    Yska HAF6 papers · 2026

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

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

15

interventional trials for this specific condition

15 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

15 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94th percentile).

low confidence · 94th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

3 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 2026-07-30

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 Adrenomyeloneuropathy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Adrenoleukodystrophy (early stages) as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

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.

"Adrenomyeloneuropathy"

Run this search on Europe PMC

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

"Adrenomyeloneuropathy"

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: 15 interventional · 3 observational · 0 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: AMN

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:33:58.541Z