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ORPHA:58

Alexander disease

low confidenceDisorder

Also known as: AxD

Publications

120,177

Trials

1

Interventional, condition-specific

Researchers

1,457

Distinct authors in sample

Gene link

GFAP

Definitive

Readiness

6/6

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — GFAP

  2. LiteraturePresent

    120,177 matched papers (72,409 in last 10 years) Source

  3. Phenotype characterisedPresent

    122 HPO annotations (e.g. Dysmetria; Pendular nystagmus; Bulbar signs) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. 2'-O-(2-methoxyethyl)-D-ribose antisense oligonucleotide targeting glial fibrillary acidic protein messenger ribonucleic acid Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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)

122

Associated phenotypes · MONDO:0008752

  • Dysmetria
  • Pendular nystagmus
  • Bulbar signs
  • Palatal tremor
  • Increased CSF protein concentration

Showing 5 of 122 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA 2'-O-(2-methoxyethyl)-D-ribose antisense oligonucleotide targeting glial fibrillary acidic protein messenger ribonucleic acidTreatment of Alexander disease · 17/10/2019 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0008752

CTD chemicals (MyDisease.info)

1 associated chemical · 4 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Vigabatrin · therapeutic

Pathways: Jak-STAT signaling pathway; Signaling by ERBB4; Nuclear signaling by ERBB4; Signal Transduction

MyDisease.info · MONDO:0008752

Literature

Is anyone studying this?

120,177

120,177 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

120,177 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).

72,409 in the last 10 years · low confidence

Phrase hits: 1,521 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,457

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
    Wang Y10 papers · 2026

    Department of Nuclear Medicine & PET Center, Huashan Hospital, Fudan University, Shanghai, China.

    Papers in Europe PMC
  2. 02
    Zetterberg H10 papers · 2026

    Department of Psychiatry and Neurochemistry, Institute of Neuroscience & Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.

    Papers in Europe PMC
  3. 03
    Messing A8 papers · 2026

    Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin 53705.

    Papers in Europe PMC
  4. 04
    Pérez-Sala D7 papers · 2026

    Department of Molecular and Cellular Biosciences, Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain.

    Papers in Europe PMC
  5. 05
    Blennow K6 papers · 2026

    Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.

    Papers in Europe PMC
  6. 06
    Goya-Iglesias N6 papers · 2026

    Department of Molecular and Cellular Biosciences, Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain.

    Papers in Europe PMC
  7. 07
    Waldman AT6 papers · 2026

    Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: waldman@chop.edu.

    Papers in Europe PMC
  8. 08
    Bachetti T5 papers · 2026

    IRCCS Ospedale Policlinico San Martino, Genova, Italy.

    Papers in Europe PMC
  9. 09
    Pajares MA5 papers · 2026

    Department of Molecular and Cellular and Biosciences, Centro de Investigaciones Biológicas Margarita Salas, C.S.I.C., Madrid, 28040, Spain.

    Papers in Europe PMC
  10. 10
    Chen Y4 papers · 2026

    Department of Neurology, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong Province, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 42 · after dedupe 42 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 42 · 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 (42)

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 Alexander disease — check Associations / patient organisations on that page.

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") OR ("GFAP" OR "GFAP syndrome" OR "GFAP-related")

Run this search on Europe PMC

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

"Alexander disease"

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: 1 interventional · 3 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: 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