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ORPHA:35689

Primary lateral sclerosis

medium confidenceDisorder

Also known as: Adult-onset PLS · Adult-onset primary lateral sclerosis · PLS

Publications

2,087

89th percentile

Trials

7

Interventional, condition-specific

Researchers

1,329

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Primary lateral sclerosis (PLS) is an non-familial motor neuron disease characterized by slowly upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.

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 (3)

adult-onset PLS · adult-onset primary lateral sclerosis · primary 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.”

4/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,087 matched papers (1,321 in last 10 years) Source

  3. Phenotype characterisedPresent

    67 HPO annotations (e.g. Spasticity; Spastic tetraparesis; Muscle weakness) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. mecasermin rinfabate Source

  6. Interventional trialPresent

    7 matched on ClinicalTrials.gov (2 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

67

Associated phenotypes · MONDO:0018155

  • Spasticity
  • Spastic tetraparesis
  • Muscle weakness
  • Hyperreflexia
  • Spastic gait

Showing 5 of 67 — 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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA mecasermin rinfabateLateral Sclerosis · 2012-07-23 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0018155

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,087

2,087 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.

2,087 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).

1,321 in the last 10 years · medium confidence · 89th percentile (publications denominator)

Phrase hits: 2,087 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,329

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
    Bede P17 papers · 2026

    Pitié-Salpêtrière University Hospital, Sorbonne University, Paris, France; Computational Neuroimaging Group, Trinity College Dublin, Ireland. Electronic address: pbede@tcd.ie.

    Papers in Europe PMC
  2. 02
    Tan EL12 papers · 2026

    Computational Neuroimaging Group (CNG), School of Medicine, Trinity College Dublin, Dublin, Ireland.

    Papers in Europe PMC
  3. 03
    de Carvalho M10 papers · 2026

    Faculty of Medicine, Instituto de Fisiologia, Instituto de Medicina Molecular, Universidade de Lisboa, Lisbon, Portugal.

    Papers in Europe PMC
  4. 04
    Hardiman O10 papers · 2026

    Academic Unit of Neurology, Trinity Biomedical Science Institute, Trinity College Dublin, Dublin 2, Ireland.

    Papers in Europe PMC
  5. 05
    van den Berg LH10 papers · 2026

    Department of Neurology, Utrecht University, Utrecht, The Netherlands.

    Papers in Europe PMC
  6. 06
    Mitsumoto H9 papers · 2026

    Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.

    Papers in Europe PMC
  7. 07
    Corcia P8 papers · 2026

    ALS Center, CHU Bretonneau Tours, Tours, France.

    Papers in Europe PMC
  8. 08
    Kleinerova J8 papers · 2026

    Computational Neuroimaging Group (CNG), School of Medicine, Trinity College Dublin, Room 5.43, Pearse Street, Dublin 2, Dublin, Ireland.

    Papers in Europe PMC
  9. 09
    Siah WF8 papers · 2026

    Computational Neuroimaging Group, Trinity College Dublin, Dublin, Ireland.

    Papers in Europe PMC
  10. 10
    Veldink JH8 papers · 2026

    Department of Neurology, Utrecht University, Utrecht, The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

medium confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

23 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 31 · after dedupe 31 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 31 · 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 (31)

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 Primary 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.

"Primary lateral sclerosis" OR "Adult-onset PLS" OR "Adult-onset primary lateral sclerosis"

Run this search on Europe PMC

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

"Primary lateral sclerosis" OR "Adult-onset PLS" OR "Adult-onset primary lateral sclerosis"

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: 7 interventional · 23 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: PLS

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 2026-07-26T23:47:23.046Z