ORPHA:812
Sialidosis type 1
Also known as: Cherry-red spot-myoclonus syndrome · Lipomucopolysaccharidosis · Normomorphic sialidosis
Publications
160
61.2th percentile
Trials
0
Interventional, condition-specific
Researchers
773
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, visual loss, bilateral macular cherry red spots and myoclonic and , that usually presents in the second to third decade of life.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019346
- UMLS:C0023806
Additional Mondo synonyms (3)
cherry-red spot-myoclonus syndrome · lipomucopolysaccharidosis · normosomatic sialidosis
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
160 matched papers (74 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
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?
160
160 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=5449) is 41.
160 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).
74 in the last 10 years · high confidence · 61.2th percentile (publications denominator)
Phrase hits: 160 · MeSH hits: 0
Who's working on it?
773
Distinct author names in 160 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.
- 01d'Azzo A7 papers · 2022
Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN, USA.
Papers in Europe PMC - 02Spranger J7 papers · 1978Papers in Europe PMC
- 03O'Brien JS6 papers · 1980Papers in Europe PMC
- 04Annunziata I4 papers · 2020
Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN, USA.
Papers in Europe PMC - 05Saxena R4 papers · 2020
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi 110060, India.
Papers in Europe PMC - 06Cantz M3 papers · 1994Papers in Europe PMC
- 07Frucht SJ3 papers · 2021
NYU Grossman School of Medicine, Division of Movement Disorders, New York, NY, US.
Papers in Europe PMC - 08Wiedemann HR3 papers · 1969Papers in Europe PMC
- 09Abrams JD2 papers · 1979Papers in Europe PMC
- 10Beauregard G2 papers · 1982Papers 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).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Broader category sialidosis also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: sialidosis
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 on the overview but are not added to the query string.
"Sialidosis type 1" OR "Cherry-red spot-myoclonus syndrome" OR "Lipomucopolysaccharidosis" OR "Normomorphic sialidosis" OR "normosomatic sialidosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sialidosis type 1" OR "Cherry-red spot-myoclonus syndrome" OR "Lipomucopolysaccharidosis" OR "Normomorphic sialidosis" OR "normosomatic sialidosis"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"sialidosis"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:30:21.522Z