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ORPHA:579

Mucopolysaccharidosis type 1

medium confidenceDisorder

Also known as: Alpha-L-iduronidase deficiency · MPS1 · MPSI · Mucopolysaccharidosis type I

Publications

6,033

92.1th percentile

Trials

6

Interventional, condition-specific

Researchers

1,434

Distinct authors in sample

Gene link

IDUA

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate .

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Mucopolysaccharidosis Type I · lipochondrodystrophy · mucopolysaccharidosis type 1 · mucopolysaccharidosis type I

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — IDUA

  2. LiteraturePresent

    6,033 matched papers (2,939 in last 10 years) Source

  3. Phenotype characterisedPresent

    262 HPO annotations (e.g. Everted lower lip vermilion; Glaucoma; Abnormality of the skeletal system) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 10 EMA designations (1 FDA orphan-indication approval) — e.g. ataluren Source

  6. Interventional trialPresent

    6 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 (IDUA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

262

Associated phenotypes · MONDO:0001586

  • Everted lower lip vermilion
  • Glaucoma
  • Abnormality of the skeletal system
  • Joint stiffness
  • Aortic regurgitation

Showing 5 of 262 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

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)

11

Designations · 1 with FDA orphan-indication approval

  • FDA atalurenMucopolysaccharidosis Type I · 2014-12-10 · Not FDA Approved for Orphan Indication
  • EMA recombinant adeno-associated viral vector serotype 9 containing human iduronidase geneTreatment of mucopolysaccharidosis type I · 27/06/2018 · PositiveEMA designation
  • EMA autologous CD34+ haematopoietic stem and progenitor cells genetically modified with the lentiviral vector IDUA LV, encoding for the alpha-L-iduronidase cDNATreatment of mucopolysaccharidosis type I · 26/10/2018 · PositiveEMA designation
  • EMA lepunafusp alfaTreatment of mucopolysaccharidosis type I · 26/03/2021 · PositiveEMA designation
  • EMA 6'-(R)-methyl-5-O-(5-amino-5,6-dideoxy-α-L-talofuranosyl)-paromamine sulfateTreatment of mucopolysaccharidosis type I · 22/09/2016 · PositiveEMA designation
  • EMA pentosan polysulfate sodiumTreatment of mucopolysaccharidosis type I · 19/11/2014 · PositiveEMA designation
  • EMA atalurenTreatment of mucopolysaccharidosis type I · 19/11/2014 · WithdrawnEMA designation
  • EMA adeno-associated viral vector serotype 2/6 encoding zinc-finger nucleases and the human alpha L-iduronidase gene (devafidugene civaparvovec)Treatment of mucopolysaccharidosis type I · 17/01/2018 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

5

Drugs / clinical candidates · MONDO_0001586

CTD chemicals (MyDisease.info)

1 associated chemical · 12 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 5-O-(5-amino-5-deoxyribofuranosyl)-1N-(4-amino-2-hydroxybutanoyl)paromamine · therapeutic

Pathways: Glycosaminoglycan degradation; Metabolic pathways; Lysosome; Dermatan sulfate degradation; Heparan sulfate degradation; Metabolism; Glycosaminoglycan metabolism; Heparan sulfate/heparin (HS-GAG) metabolism

MyDisease.info · MONDO:0001586

Literature

Is anyone studying this?

6,033

6,033 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.

6,033 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).

2,939 in the last 10 years · medium confidence · 92.1th percentile (publications denominator)

Phrase hits: 4,265 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,434

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
    Giugliani R7 papers · 2026

    Department of Genetics, Universidade Federal do Rio Grande do Sul, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, INAGEMP, Dasa, and Casa dos Raros, Porto Alegre 90035-903, Brazil.

    Papers in Europe PMC
  2. 02
    Aiuti A5 papers · 2026

    Pediatric Immunohematology and Bone Marrow Transplantation, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.

    Papers in Europe PMC
  3. 03
    Baldo G5 papers · 2026

    Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, RS, Brazil.

    Papers in Europe PMC
  4. 04
    Bernardo ME5 papers · 2026

    Pediatric Immunohematology and Bone Marrow Transplantation, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.

    Papers in Europe PMC
  5. 05
    Li H5 papers · 2026

    Eye Center of Xiangya Hospital and Hunan Key Laboratory of Ophthalmology, Central South University, Changsha, China.

    Papers in Europe PMC
  6. 06
    Lund TC5 papers · 2025

    4Pediatrics, University of Minnesota; and.

    Papers in Europe PMC
  7. 07
    Matte U5 papers · 2026

    Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, RS, Brazil.

    Papers in Europe PMC
  8. 08
    Whitley CB5 papers · 2026

    Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.

    Papers in Europe PMC
  9. 09
    Alif N4 papers · 2025

    Laboratory of Biotechnologies and Valorization of Natural Resources, Department of Biology- Faculty of Sciences, Ibn Zohr University, Agadir, Morocco.

    Papers in Europe PMC
  10. 10
    Amri Y4 papers · 2025

    Laboratory of Biochemistry (LR 00SP03), Bechir Hamza Children's Hospital, Tunis, Tunisia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 101 trials are registered for mucopolysaccharidosis, 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

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

medium confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: mucopolysaccharidosis

101

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

Observational and natural-history studies

8 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

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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · 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 (9)

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 Mucopolysaccharidosis type 1 — 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.

("Mucopolysaccharidosis type 1" OR "Alpha-L-iduronidase deficiency" OR "Mucopolysaccharidosis type I" OR "lipochondrodystrophy") OR ("IDUA" OR "IDUA syndrome" OR "IDUA-related")

Run this search on Europe PMC

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

"Mucopolysaccharidosis type 1" OR "Alpha-L-iduronidase deficiency" OR "Mucopolysaccharidosis type I" OR "lipochondrodystrophy"

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: 6 interventional · 8 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"mucopolysaccharidosis"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MPS1; MPSI

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:25:46.611Z