ORPHA:423461
Mucolipidosis type III alpha/beta
Also known as: ML 3 alpha/beta · ML III alpha/beta · Mucolipidosis type 3 alpha/beta
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
420
73.5th percentile
Trials
0
Interventional, condition-specific
Researchers
958
Distinct authors in sample
Gene link
GNPTAB
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate and mild in most patients.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018931
- OMIM:252600
- UMLS:C0033788
Additional Mondo synonyms (5)
MLIII · Pseudo Hurler Polydystrophy · mucolipidosis type 3 alpha/beta · mucolipidosis type III · pseudo-Hurler polydystrophy
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — GNPTAB
- LiteraturePresent
420 matched papers (147 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 trialPartial
None under the specific name; 2 for broader category mucolipidosis
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 (GNPTAB).
GenCC classification: Definitive.
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?
420
420 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.
420 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).
147 in the last 10 years · medium confidence · 73.5th percentile (publications denominator)
Phrase hits: 420 · MeSH hits: 0
Who's working on it?
958
Distinct author names in 200 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.
- 01Kornfeld S14 papers · 2025
Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.
Papers in Europe PMC - 02Pohl S11 papers · 2021
Department of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany, s.pohl@uke.de.
Papers in Europe PMC - 03Braulke T9 papers · 2021
Department of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany.
Papers in Europe PMC - 04Velho RV9 papers · 2023
Department of Genetics, Universidade Federal do Rio Grande do Sul, Avenida Paulo Gama 110, 90040-060 Porto Alegre, Brazil.
Papers in Europe PMC - 05Ludwig NF8 papers · 2023
Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.
Papers in Europe PMC - 06Miller AL7 papers · 1993
Department of Neurosciences, University of California, San Diego School of Medicine, La Jolla 92093.
Papers in Europe PMC - 07Schwartz IV6 papers · 2023
Department of Genetics, Universidade Federal do Rio Grande do Sul, Avenida Paulo Gama 110, 90040-060 Porto Alegre, Brazil, Laboratory of Basic Research and Advanced Investigations in Neurosciences, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcellos 2350, 90035-903 Porto Alegre, Brazil and.
Papers in Europe PMC - 08Sillence D6 papers · 2026
The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Papers in Europe PMC - 09Sperb-Ludwig F6 papers · 2023
Laboratory of Basic Research and Advanced Investigations in Neurosciences, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcellos 2350, 90035-903 Porto Alegre, Brazil and.
Papers in Europe PMC - 10Ben-Yoseph Y5 papers · 1992
Department of Pediatrics, Wayne State University, Detroit MI 48201.
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). 2 trials are registered for mucolipidosis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
medium 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.
2 interventional trials matched mucolipidosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: mucolipidosis
2
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
- NCT07398872·ENROLLING BY INVITATION·Safety and Efficacy of AAV9. hMCOLN1co For Patients With Mucolipidosis Type IV
Conditions: Mucolipidosis Type IV·Matched via name phrase
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.
"Mucolipidosis type III alpha/beta" OR "ML 3 alpha/beta" OR "ML III alpha/beta" OR "Mucolipidosis type 3 alpha/beta" OR "MLIII" OR "Pseudo Hurler Polydystrophy" OR "mucolipidosis type III" OR "pseudo-Hurler polydystrophy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mucolipidosis type III alpha/beta" OR "ML 3 alpha/beta" OR "ML III alpha/beta" OR "Mucolipidosis type 3 alpha/beta" OR "MLIII" OR "Pseudo Hurler Polydystrophy" OR "mucolipidosis type III" OR "pseudo-Hurler polydystrophy" OR "GNPTAB" OR "familial mucolipidosis" OR "GNPTAB-mucolipidosis"
Recall-expansion terms: GNPTAB, familial mucolipidosis, GNPTAB-mucolipidosis
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"mucolipidosis"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- "mucolipidosis type III" also appears on ORPHA:577
- "pseudo-Hurler polydystrophy" also appears on ORPHA:577
Ingested 2026-07-27T15:51:54.115Z