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ORPHA:58

Alexander disease

low confidenceDisorder

Also known as: AxD

Publications

1,521

Trials

5

Interventional, condition-specific

Researchers

1,073

Distinct authors in sample

Gene link

GFAP

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, and and leading to psychomotor regression and death.

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — GFAP

  2. LiteraturePresent

    1,521 matched papers (869 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

    5 matched on ClinicalTrials.gov (3 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?

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

GenCC classification: Definitive.

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?

1,521

1,521 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.

1,521 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).

869 in the last 10 years · low confidence

Phrase hits: 1,521 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,073

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
    Messing A15 papers · 2026

    Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.

    Papers in Europe PMC
  2. 02
    Yoshida T11 papers · 2026

    Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine.

    Papers in Europe PMC
  3. 03
    Hagemann TL10 papers · 2026

    Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.

    Papers in Europe PMC
  4. 04
    Tonduti D10 papers · 2026

    Unit of Pediatric Neurology - C.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Pérez-Sala D9 papers · 2026

    Department of Structural and Chemical Biology, Centro de Investigaciones Biológicas Margarita Salas, C.S.I.C., 28040, Madrid, Spain. Electronic address: dperezsala@cib.csic.es.

    Papers in Europe PMC
  6. 06
    Waldman AT9 papers · 2026

    Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

    Papers in Europe PMC
  7. 07
    Bachetti T7 papers · 2026

    UOSD Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

    Papers in Europe PMC
  8. 08
    Bernard G7 papers · 2026

    Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada. genevieve.bernard@mcgill.ca.

    Papers in Europe PMC
  9. 09
    Lin NH7 papers · 2026

    Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, Taiwan.

    Papers in Europe PMC
  10. 10
    Pajares MA7 papers · 2026

    Department of Structural and Chemical Biology, Centro de Investigaciones Biológicas Margarita Salas, C.S.I.C., 28040, Madrid, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

low confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

21 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

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

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.

"Alexander disease"

Run this search on Europe PMC

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

"Alexander disease" OR "GFAP"

Recall-expansion terms: GFAP

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: 5 interventional · 21 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: AxD

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 2026-07-26T12:16:03.537Z