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ORPHA:247604

Juvenile primary lateral sclerosis

low confidenceDisorder

Also known as: JPLS · Juvenile PLS

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

57,438

Trials

0

Interventional, condition-specific

Researchers

4,791

Distinct authors in sample

Gene link

ALS2

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A very rare motor neuron disease characterized by upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

juvenile PLS

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — ALS2

  2. LiteraturePresent

    57,438 matched papers (36,898 in last 10 years) Source

  3. Phenotype characterisedPresent

    34 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 designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 681 for broader category lateral sclerosis

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 (ALS2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

34

Associated phenotypes · MONDO:0011663

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

Showing 5 of 34 — 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 2026-07-27

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

57,438

57,438 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.

57,438 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).

36,898 in the last 10 years · low confidence

Phrase hits: 89 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

4,791

Distinct author names in 89 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Wang Y13 papers · 2021

    bxd University of Toronto, Hospital for Sick Children , Toronto, Ontario , Canada.

    Papers in Europe PMC
  2. 02
    Zhang H11 papers · 2021

    fd Chinese Academy of Medical Sciences and Peking Union Medical College , Department of Physiology , Institute of Basic Medical Sciences , Beijing , China.

    Papers in Europe PMC
  3. 03
    Zhang Y10 papers · 2021

    btv University of Science and Technology of China , Anhui , China.

    Papers in Europe PMC
  4. 04
    Zhang L9 papers · 2021

    ccy Zhejiang University, Life Sciences Institute , Zhejiang , China.

    Papers in Europe PMC
  5. 05
    Hadano S8 papers · 2022

    auf Tokai University School of Medicine , Department of Molecular Life Sciences , Kanagawa , Japan.

    Papers in Europe PMC
  6. 06
    Liu X8 papers · 2021

    lw Freshwater Aquaculture Collaborative Innovation Center of Hubei Province , Wuhan , China.

    Papers in Europe PMC
  7. 07
    Zhang X8 papers · 2021

    ma Fudan University, Cancer Center , Department of Integrative Oncology , Shanghai , China.

    Papers in Europe PMC
  8. 08
    Chen Y7 papers · 2021

    atl Third Military Medical University , Department of Neurosurgery , Southwest Hospital , Shapingba District, Chongqing , China.

    Papers in Europe PMC
  9. 09
    Li M7 papers · 2021

    aqz Sun Yat-Sen University , Department of Pharmacology and Toxicology , School of Pharmaceutical Sciences , Guangzhou , China.

    Papers in Europe PMC
  10. 10
    Liu Y7 papers · 2021

    avb Tsinghua University, School of Life Sciences , Beijing , China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 681 trials are registered for lateral sclerosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 9 September 2026 · last trial check 9 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

681 interventional trials matched lateral sclerosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: lateral sclerosis

681

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27

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).

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 Juvenile 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.

("Juvenile primary lateral sclerosis" OR "Juvenile PLS") OR (MESH:"Primary lateral sclerosis juvenile") OR ("ALS2" OR "ALS2 syndrome" OR "ALS2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Primary lateral sclerosis juvenile

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

"Juvenile primary lateral sclerosis" OR "Juvenile PLS" OR "Primary lateral sclerosis juvenile"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"lateral sclerosis"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: JPLS

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
  • Publication count (57438) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:05:30.262Z