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ORPHA:578

Mucolipidosis type IV

low confidenceDisorder

Publications

5,158

Trials

1

Interventional, condition-specific

Researchers

1,061

Distinct authors in sample

Gene link

MCOLN1

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — MCOLN1

  2. LiteraturePresent

    5,158 matched papers (3,255 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Everted lower lip vermilion; Retinopathy; Abnormal electroretinogram) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

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

  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)

55

Associated phenotypes · MONDO:0009653

  • Everted lower lip vermilion
  • Retinopathy
  • Abnormal electroretinogram
  • Genu recurvatum
  • Ganglioside accumulation

Showing 5 of 55 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

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?

5,158

5,158 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.

5,158 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).

3,255 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (40)

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 Mucolipidosis type IV — 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.

("Mucolipidosis type IV" OR "ML IV" OR "Mucolipidosis IV" OR "mucolipidosis type 4" OR "sialolipidosis") OR ("MCOLN1" OR "MCOLN1 syndrome" OR "MCOLN1-related")

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"

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: ok — strategies attempted: phrase; 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 (5158) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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