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ORPHA:662216

Mucopolysaccharidosis type 10

high confidenceDisorder

Also known as: MPS10 · MSP type X · Mucopolysaccharidosis due to ARSK deficiency · Mucopolysaccharidosis type X

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

Publications

60

53.6th percentile

Trials

0

Interventional, condition-specific

Researchers

341

Distinct authors in sample

Gene link

ARSK

Strong

Readiness

3/6

Stages with a signal

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.

Orphanet entry

Cross-references

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

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.

  1. Gene identifiedPresent

    Strong — ARSK

  2. LiteraturePresent

    60 matched papers (51 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 trialPartial

    None under the specific name; 107 for broader category mucopolysaccharidosis

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 (ARSK).

GenCC classification: Strong.

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?

60

60 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.

60 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).

51 in the last 10 years · high confidence · 53.6th percentile (publications denominator)

Phrase hits: 60 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

341

Distinct author names in 60 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.

  1. 01
    Xie H4 papers · 2022

    Department of Oral Biology, University of Washington, Seattle, Washington 98195, USA. hxie@u.washington.edu

    Papers in Europe PMC
  2. 02
    Al-Harrasi A3 papers · 2025

    Natural and Medical Sciences Research Centre, University of Nizwa P.O. Box 33, PC 616, Birkat Al Mauz Nizwa Sultanate of Oman aharrasi@unizwa.edu.om.

    Papers in Europe PMC
  3. 03
    Hussain J3 papers · 2025

    Department of Biological Sciences and Chemistry, University of Nizwa Oman.

    Papers in Europe PMC
  4. 04
    Khan A3 papers · 2025

    Natural and Medical Sciences Research Centre, University of Nizwa P.O. Box 33, PC 616, Birkat Al Mauz Nizwa Sultanate of Oman aharrasi@unizwa.edu.om.

    Papers in Europe PMC
  5. 05
    Shafiq Z3 papers · 2025

    Institute of Chemical Sciences, Bahauddin Zakariya University Multan-60800 Pakistan zahidshafiq@bzu.edu.pk.

    Papers in Europe PMC
  6. 06
    Ullah S3 papers · 2025

    Natural and Medical Sciences Research Centre, University of Nizwa P.O. Box 33, PC 616, Birkat Al Mauz Nizwa Sultanate of Oman aharrasi@unizwa.edu.om.

    Papers in Europe PMC
  7. 07
    Batool Z2 papers · 2025

    Institute of Chemical Sciences, Bahauddin Zakariya University, 60800, Multan, Pakistan.

    Papers in Europe PMC
  8. 08
    Chen C2 papers · 2022

    Jiangsu Key Laboratory of Oral Diseases, Department of Endodontics, Affiliated Hospital of Stomatology, Nanjing Medical University, Jiangsu Province Key Laboratory of Oral Diseases, Jiangsu Province Engineering Research Center of Stomatological Translational Medicine, Nanjing, PR China. Electronic address: ccchicy@njmu.edu.cn.

    Papers in Europe PMC
  9. 09
    Dawson PA2 papers · 2025

    Mater Research Institute-University of Queensland, Translational Research Institute, Brisbane, QLD 4102, Australia.

    Papers in Europe PMC
  10. 10
    Girisha KM2 papers · 2025

    Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.

    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). 107 trials are registered for mucopolysaccharidosis, 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.

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.

107 interventional trials matched mucopolysaccharidosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: mucopolysaccharidosis

107

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

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.

"Mucopolysaccharidosis type 10" OR "MPS10" OR "MSP type X" OR "Mucopolysaccharidosis due to ARSK deficiency" OR "Mucopolysaccharidosis type X"

Run this search on Europe PMC

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

"Mucopolysaccharidosis type 10" OR "MPS10" OR "MSP type X" OR "Mucopolysaccharidosis due to ARSK deficiency" OR "Mucopolysaccharidosis type X" OR "ARSK" OR "mucopolysaccharidosis or mucopolysaccharidosis-like disorder"

Recall-expansion terms: ARSK, mucopolysaccharidosis or mucopolysaccharidosis-like disorder

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"mucopolysaccharidosis"

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
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T20:11:18.216Z