ORPHA:247604
Juvenile primary lateral sclerosis
Also known as: JPLS · Juvenile PLS
Query health: suspect — Only one of 3 strategies returned hits (phrase).
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.
Is anyone studying this?
89
89 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
89 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
49 in the last 10 years · medium confidence · 55.2th percentile (publications denominator)
Is a treatment being tested?
0
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). 680 trials are registered for lateral sclerosis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
680
trials for lateral sclerosis, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (ALS2).
GenCC classification: Strong.
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.
- 01Wang Y13 papers · 2021
bxd University of Toronto, Hospital for Sick Children , Toronto, Ontario , Canada.
Papers in Europe PMC - 02Zhang 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 - 03Zhang Y10 papers · 2021
btv University of Science and Technology of China , Anhui , China.
Papers in Europe PMC - 04Zhang L9 papers · 2021
ccy Zhejiang University, Life Sciences Institute , Zhejiang , China.
Papers in Europe PMC - 05Hadano S8 papers · 2022
auf Tokai University School of Medicine , Department of Molecular Life Sciences , Kanagawa , Japan.
Papers in Europe PMC - 06Liu X8 papers · 2021
lw Freshwater Aquaculture Collaborative Innovation Center of Hubei Province , Wuhan , China.
Papers in Europe PMC - 07Zhang X8 papers · 2021
ma Fudan University, Cancer Center , Department of Integrative Oncology , Shanghai , China.
Papers in Europe PMC - 08Chen Y7 papers · 2021
atl Third Military Medical University , Department of Neurosurgery , Southwest Hospital , Shapingba District, Chongqing , China.
Papers in Europe PMC - 09Li M7 papers · 2021
aqz Sun Yat-Sen University , Department of Pharmacology and Toxicology , School of Pharmaceutical Sciences , Guangzhou , China.
Papers in Europe PMC - 10Liu Y7 papers · 2021
avb Tsinghua University, School of Life Sciences , Beijing , China.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
680 interventional trials matched lateral sclerosis, the broader category — see the summary above. Those studies are not counted in the condition-specific total.
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 2026-07-26This 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 below but are not added to the query string.
"Juvenile primary lateral sclerosis" OR "Juvenile PLS"
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" OR "ALS2"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C536416 OMIM:606353 UMLS:C1853396
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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