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ORPHA:803

Amyotrophic lateral sclerosis

medium confidenceDisorder

Also known as: ALS · Charcot disease · Lou Gehrig disease

Publications

106,216

99.8th percentile

Trials

683

Interventional, condition-specific

Researchers

1,351

Distinct authors in sample

Gene link

APEX1, ARHGEF28, ARPP21

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodegenerative disease characterized by muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

amyotrophic lateral sclerosis

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 — APEX1, ARHGEF28, ARPP21, CAV1, CAV2…

  2. LiteraturePresent

    106,216 matched papers (65,134 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

    683 matched on ClinicalTrials.gov (155 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 (APEX1, ARHGEF28, ARPP21…).

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?

106,216

106,216 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=5449) is 41.

106,216 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).

65,134 in the last 10 years · medium confidence · 99.8th percentile (publications denominator)

Phrase hits: 106,216 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,351

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 Y6 papers · 2026

    Department of Neurology, First Affiliated Hospital of Harbin Medical University, Harbin 150000, China.

    Papers in Europe PMC
  2. 02
    Cooper-Knock J5 papers · 2026

    Sheffield Institute for Translational Neuroscience (SITraN) and Neuroscience Institute, University of Sheffield, Sheffield, S10 2HQ, UK.

    Papers in Europe PMC
  3. 03
    Lin P4 papers · 2026

    Department of Neurology, Research Institute of Neuromuscular and Neurodegenerative Diseases, Shandong Provincial Key Laboratory of Mitochondrial Medicine and Rare Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.

    Papers in Europe PMC
  4. 04
    Liu S4 papers · 2026

    School of Nursing and Rehabilitation, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.

    Papers in Europe PMC
  5. 05
    Sun X4 papers · 2026

    Department of Neurology, Research Institute of Neuromuscular and Neurodegenerative Diseases, Shandong Provincial Key Laboratory of Mitochondrial Medicine and Rare Diseases, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.

    Papers in Europe PMC
  6. 06
    Wang J4 papers · 2026

    School of Pharmaceutical Sciences, Hebei Medical University, Shijiazhuang 050017, China.

    Papers in Europe PMC
  7. 07
    Yu D4 papers · 2026

    Department of Radiology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.

    Papers in Europe PMC
  8. 08
    Yun Y4 papers · 2026

    Department of Radiology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, China.

    Papers in Europe PMC
  9. 09
    Chang CY3 papers · 2026

    Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada.

    Papers in Europe PMC
  10. 10
    De Vocht J3 papers · 2026

    Department of Neurology, University Hospitals Leuven, Leuven, Belgium.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

683

interventional trials for this specific condition

683 interventional trials matched this specific condition name; 155 currently recruiting in our sample.

Data as of 27 July 2026

683 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.8th percentile).

medium confidence · 99.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

257 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.

"Amyotrophic lateral sclerosis" OR "Charcot disease" OR "Lou Gehrig disease"

Run this search on Europe PMC

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

"Amyotrophic lateral sclerosis" OR "Charcot disease" OR "Lou Gehrig disease" OR "APEX1" OR "ARHGEF28" OR "ARPP21" OR "CAV1" OR "CAV2" OR "CCNF" OR "CFAP410" OR "CLEC4C" OR "CYLD" OR "DAO" OR "DCTN1" OR "DNAJC7" OR "EWSR1" OR "FUS" OR "GLE1" OR "GLT8D1" OR "HNRNPA2B1" OR "LGALSL" OR "NEFH" OR "NUP50" OR "PCDHA9" OR "PPIA" OR "PRPH" OR "RAPGEF2" OR "SPTLC2" OR "SS18L1" OR "TAF15"

Recall-expansion terms: APEX1, ARHGEF28, ARPP21, CAV1, CAV2, CCNF, CFAP410, CLEC4C, CYLD, DAO, DCTN1, DNAJC7, EWSR1, FUS, GLE1, GLT8D1, HNRNPA2B1, LGALSL, NEFH, NUP50, PCDHA9, PPIA, PRPH, RAPGEF2, SPTLC2, SS18L1, TAF15

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: 683 interventional · 257 observational · 12 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: ALS

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 2026-07-26T15:25:03.725Z