RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:803

Amyotrophic lateral sclerosis

medium confidenceDisorder

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

Publications

110,565

99.6th percentile

Trials

676

Interventional, condition-specific

Researchers

1,351

Distinct authors in sample

Gene link

APEX1, ARHGEF28, ARPP21

Definitive

Readiness

6/6

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.”

6/6 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

    110,565 matched papers (67,714 in last 10 years) Source

  3. Phenotype characterisedPresent

    581 HPO annotations (e.g. Muscle weakness; Upper limb spasticity; Spastic diplegia) Source

  4. Animal modelPresent

    135 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    15 FDA · 5 EMA designations (15 FDA orphan-indication approvals) — e.g. monosialotetrahexosylganglioside Source

  6. Interventional trialPresent

    676 matched on ClinicalTrials.gov (153 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)

581

Associated phenotypes · MONDO:0004976

  • Muscle weakness
  • Upper limb spasticity
  • Spastic diplegia
  • Gait disturbance
  • Bulbar signs

Showing 5 of 581 — open Monarch for the full list.

Animal models (Monarch / Alliance)

135

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)

30

Designations · 15 with FDA orphan-indication approval

  • FDA monosialotetrahexosylgangliosideAmyotrophic Lateral Sclerosis · 2021-03-09 · Not FDA Approved for Orphan Indication
  • FDA trehaloseAmyotrophic Lateral Sclerosis · 2020-11-18 · Not FDA Approved for Orphan Indication
  • FDA 2,4 dinitrophenolAmyotrophic Lateral Sclerosis · 2020-09-08 · Not FDA Approved for Orphan Indication
  • FDA AldesleukinAmyotrophic Lateral Sclerosis · 2020-04-22 · Not FDA Approved for Orphan Indication
  • FDA FasudilAmyotrophic Lateral Sclerosis · 2020-01-15 · Not FDA Approved for Orphan Indication
  • FDA ReldesemtivAmyotrophic Lateral Sclerosis · 2019-12-11 · Not FDA Approved for Orphan Indication
  • FDA ImidazopyridineAmyotrophic Lateral Sclerosis · 2019-07-22 · Not FDA Approved for Orphan Indication
  • FDA clenbuterolAmyotrophic Lateral Sclerosis · 2018-10-02 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

190

Drugs / clinical candidates · MONDO_0004976

CTD chemicals (MyDisease.info)

89 associated chemicals · 584 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 2-(4-morpholino)ethyl-1-phenylcyclohexane-1-carboxylate · therapeutic
  • 3-((4-(4-chlorophenyl)piperazin-1-yl)methyl)-1H-pyrrolo(2,3-b)pyridine · therapeutic
  • Aspirin · therapeutic
  • beta-N-methylamino-L-alanine · therapeutic
  • Bromocriptine · therapeutic
  • coomassie Brilliant Blue · therapeutic
  • Dronabinol · therapeutic
  • Drugs, Chinese Herbal · therapeutic
  • Edaravone · therapeutic
  • kenpaullone · therapeutic
  • Lenalidomide · therapeutic
  • Levodopa · therapeutic

Pathways: Glutathione metabolism; Glycerophospholipid metabolism; Ether lipid metabolism; Arachidonic acid metabolism; Linoleic acid metabolism; alpha-Linolenic acid metabolism; Metabolism of xenobiotics by cytochrome P450; Drug metabolism - cytochrome P450

MyDisease.info · MONDO:0004976

Literature

Is anyone studying this?

110,565

110,565 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.

110,565 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).

67,714 in the last 10 years · medium confidence · 99.6th 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?

676

interventional trials for this specific condition

676 interventional trials matched this specific condition name; 153 currently recruiting in our sample.

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

676 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.8th percentile).

medium confidence · 99.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

676 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

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 126 · after dedupe 126 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 126 · 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 (126)

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 Amyotrophic lateral sclerosis — 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.

("Amyotrophic lateral sclerosis" OR "Charcot disease" OR "Lou Gehrig disease") OR ("APEX1" OR "APEX1 syndrome" OR "APEX1-related" OR "ARHGEF28" OR "ARHGEF28 syndrome" OR "ARHGEF28-related" OR "ARPP21" OR "ARPP21 syndrome" OR "ARPP21-related")

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"

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: 676 interventional · 257 observational · 12 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: 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