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ORPHA:578

Mucolipidosis type IV

low confidenceDisorder

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

Publications

4,124

Trials

1

Interventional, condition-specific

Researchers

1,061

Distinct authors in sample

Gene link

MCOLN1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, which gradually progresses to spasticity during childhood, speech deficits, visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of features.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

ML 4 · ML IV · ML4 · MLIV · Mucolipidosis IV · mucolipidosis IV · mucolipidosis type 4 · mucolipidosis type IV · sialolipidosis

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

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

  1. Gene identifiedPresent

    Definitive — MCOLN1

  2. LiteraturePresent

    4,124 matched papers (2,357 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 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?

Yes — we know a specific gene responsible (MCOLN1).

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?

4,124

4,124 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=5449) is 41.

4,124 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).

2,357 in the last 10 years · low confidence

Phrase hits: 4,124 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,061

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
    Grishchuk Y20 papers · 2025

    Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA.

    Papers in Europe PMC
  2. 02
    Grimm C9 papers · 2026

    Faculty of Medicine, Walther Straub Institute of Pharmacology and Toxicology, Ludwig-Maximilians-Universität, Munich, Germany.

    Papers in Europe PMC
  3. 03
    Misko A8 papers · 2025

    Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital Research Institute/Harvard Medical School, Boston, MA 02114, USA.

    Papers in Europe PMC
  4. 04
    Li Y7 papers · 2025

    Shandong University of Traditional Chinese Medicine Affiliated Hospital, Jinan, Shandong, People's Republic of China.

    Papers in Europe PMC
  5. 05
    Sangster M7 papers · 2025

    Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital Research Institute/Harvard Medical School, Boston, MA 02114, USA.

    Papers in Europe PMC
  6. 06
    Medina DL6 papers · 2025

    Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078 Pozzuoli ,NA, Italy. Electronic address: medina@tigem.it.

    Papers in Europe PMC
  7. 07
    Wood LB5 papers · 2025

    Department of Neurology and Center for Genomic Medicine (A.L.M., M.D., R.O., Y.G., F.E.), Massachusetts General Hospital and Harvard Medical School, Boston, MA; George W. Woodruff School of Mechanical Engineering (L.B.W.), Wallace H. Coulter Department of Biomedical Engineering, and Parker H. Petit Institute for Bioengineering and Bioscience, Georgia Institute of Technology, Atlanta, GA; The Institute for Rare Diseases (A.R.-R.), The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler Faculty of Medicine (A.R.-R.), Tel Aviv University, Tel Aviv, Israel.

    Papers in Europe PMC
  8. 08
    Zeng W5 papers · 2024

    Institute for Immunology and School of Medicine, Tsinghua-Peking Joint Center for Life Sciences, Tsinghua University, Beijing, 100084, China.

    Papers in Europe PMC
  9. 09
    Biel M4 papers · 2026

    Munich Center for Integrated Protein Science CIPSM, Center for Drug Research, Ludwig-Maximilians-Universität, München, Germany; Department of Pharmacy, Center for Drug Research, Ludwig-Maximilians-Universität München, Germany. Electronic address: martin.biel@cup.uni-muenchen.de.

    Papers in Europe PMC
  10. 10
    Budnik B4 papers · 2024

    Wyss Institute for Biologically Inspired Engineering, Harvard University, 201 Brookline Avenue, Boston, MA 02215, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 1 trial 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

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: mucolipidosis

1

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.

Observational and natural-history studies

3 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 2026-07-26

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.

"Mucolipidosis type IV" OR "ML IV" OR "Mucolipidosis IV" OR "mucolipidosis type 4" OR "sialolipidosis"

Run this search on Europe PMC

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

"Mucolipidosis type IV" OR "ML IV" OR "Mucolipidosis IV" OR "mucolipidosis type 4" OR "sialolipidosis" OR "MCOLN1"

Recall-expansion terms: MCOLN1

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: 1 interventional · 3 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

Synonyms dropped by stoplist: ML 4; ML4; MLIV

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4124) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:25:30.600Z