RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:139396

X-linked cerebral adrenoleukodystrophy

low confidenceSubtype of disorder

Also known as: X-CALD

Publications

2,761

Trials

0

Interventional, condition-specific

Researchers

134

Distinct authors in sample

Gene link

ABCD1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), myelopathy and peripheral , and leukodystrophy. Age of onset is highly variable, but often in the first decade.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — ABCD1

  2. LiteraturePresent

    2,761 matched papers (1,875 in last 10 years) Source

  3. Phenotype characterisedPresent

    50 HPO annotations (e.g. Generalized hyperreflexia; Mental deterioration; Myelopathy) 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 trialPartial

    None under the specific name; 38 for broader category adrenoleukodystrophy

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?

Yes — we know a specific gene responsible (ABCD1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

50

Associated phenotypes · MONDO:0010247

  • Generalized hyperreflexia
  • Mental deterioration
  • Myelopathy
  • Diffuse demyelination of the cerebral white matter
  • CNS demyelination

Showing 5 of 50 — 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

1

Drugs / clinical candidates · MONDO_0010247

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,761

2,761 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.

2,761 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).

1,875 in the last 10 years · low confidence

Phrase hits: 26 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

134

Distinct author names in 26 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Cherqui S2 papers · 2022

    Department of Pediatrics, Division of Genetics, University of California, 9500 Gilman Drive, MC 0734, La Jolla, San Diego, CA, 92093-0734, USA. scherqui@ucsd.edu.

    Papers in Europe PMC
  2. 02
    Hanefeld F2 papers · 2003
    Papers in Europe PMC
  3. 03
    Korenke GC2 papers · 2003

    Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany.

    Papers in Europe PMC
  4. 04
    Abraham A1 paper · 2025

    Center for Cancer and Immunology Research, CETI, Children's National Hospital, Washington, District of Columbia, USA.

    Papers in Europe PMC
  5. 05
    Acharya S1 paper · 2025

    Department of General Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, India.

    Papers in Europe PMC
  6. 06
    Baudet H1 paper · 2023

    Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.

    Papers in Europe PMC
  7. 07
    Baumann M1 paper · 2003
    Papers in Europe PMC
  8. 08
    Beckmann NB1 paper · 2018

    a University of Minnesota Masonic Children's Hospital , Pediatric Blood & Marrow Transplantation , Minneapolis , MN , USA.

    Papers in Europe PMC
  9. 09
    Benito-León J1 paper · 2025

    Department of Neurology, 12 de Octubre University Hospital, Madrid, Spain.

    Papers in Europe PMC
  10. 10
    Bhoopalan SV1 paper · 2025

    Department of Bone Marrow Transplantation and Cellular Therapy, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 38 trials are registered for adrenoleukodystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

38 interventional trials matched adrenoleukodystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: adrenoleukodystrophy

38

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 cerebral adrenoleukodystrophy — 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.

("X-linked cerebral adrenoleukodystrophy" OR "X-CALD") OR ("ABCD1" OR "ABCD1 syndrome" OR "ABCD1-related")

Run this search on Europe PMC

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

"X-linked cerebral adrenoleukodystrophy" OR "X-CALD"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"adrenoleukodystrophy"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2761) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T07:33:46.506Z