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ORPHA:309297

Mucopolysaccharidosis type 4A

high confidenceSubtype of disorder

Also known as: GALNS deficiency · Galactosamine-6-sulfatase deficiency · MPS4A · MPSIVA · Morquio disease type A · Mucopolysaccharidosis type IVA · N-acetylgalactosamine-6-sulfate sulfatase deficiency

Publications

7,572

93.5th percentile

Trials

4

Interventional, condition-specific

Researchers

1,097

Distinct authors in sample

Gene link

GALNS

Definitive

Readiness

5/6

Stages with a signal

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

MPS IV A · Morquio syndrome A · galactosamine-6-sulfatase deficiency · mucopolysaccharidosis type 4A · mucopolysaccharidosis type IVA

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 — GALNS

  2. LiteraturePresent

    7,572 matched papers (3,817 in last 10 years) Source

  3. Phenotype characterisedPresent

    47 HPO annotations (e.g. Lumbar kyphosis; Joint hypermobility; Pectus carinatum) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    1 FDA designation (none yet with FDA orphan-indication approval) — e.g. elosulfase alfa Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov

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 (GALNS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

47

Associated phenotypes · MONDO:0009659

  • Lumbar kyphosis
  • Joint hypermobility
  • Pectus carinatum
  • Abnormal heart valve morphology
  • Epiphyseal deformities of tubular bones

Showing 5 of 47 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

1

Designation · no FDA orphan-indication approval yet

  • FDA elosulfase alfa (Vimizim)Mucopolysaccharidosis Morquio A syndrome · 2009-05-15

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0009659

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

7,572

7,572 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.

7,572 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).

3,817 in the last 10 years · high confidence · 93.5th percentile (publications denominator)

Phrase hits: 2,144 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,097

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
    Tomatsu S12 papers · 2026

    Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

    Papers in Europe PMC
  2. 02
    Pachajoa H6 papers · 2025

    Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia.

    Papers in Europe PMC
  3. 03
    Magner M5 papers · 2026

    Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.

    Papers in Europe PMC
  4. 04
    Candelo E4 papers · 2025

    Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia.

    Papers in Europe PMC
  5. 05
    Diaz-Ordoñez L4 papers · 2025

    Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia.

    Papers in Europe PMC
  6. 06
    Khan S4 papers · 2026

    Nemours Children's Health, Wilmington, DE 19803, USA.

    Papers in Europe PMC
  7. 07
    Murgašová L4 papers · 2026

    Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.

    Papers in Europe PMC
  8. 08
    Álvarez JV3 papers · 2025

    Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.

    Papers in Europe PMC
  9. 09
    Bravo SB3 papers · 2024

    Proteomic Platform, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain.

    Papers in Europe PMC
  10. 10
    Church C3 papers · 2026

    Nemours A.I. duPont Hospital for Children, 1600 Rockland Rd., Wilmington, DE 19803, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting. 103 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

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

high confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: mucopolysaccharidosis

103

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

6 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.

Recruiting or not-yet-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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 4A — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 3.

Group 3 — high-cost / lifelong therapy with careful selection

Up to ₹50 lakh per patient

Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.

Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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 4A" OR "GALNS deficiency" OR "Galactosamine-6-sulfatase deficiency" OR "MPS4A" OR "MPSIVA" OR "Morquio disease type A" OR "Mucopolysaccharidosis type IVA" OR "N-acetylgalactosamine-6-sulfate sulfatase deficiency" OR "MPS IV A" OR "Morquio syndrome A") OR ("GALNS" OR "GALNS syndrome" OR "GALNS-related")

Run this search on Europe PMC

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

"Mucopolysaccharidosis type 4A" OR "GALNS deficiency" OR "Galactosamine-6-sulfatase deficiency" OR "MPS4A" OR "MPSIVA" OR "Morquio disease type A" OR "Mucopolysaccharidosis type IVA" OR "N-acetylgalactosamine-6-sulfate sulfatase deficiency" OR "MPS IV A" OR "Morquio syndrome A"

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: 4 interventional · 6 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

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 2026-07-27T12:57:02.085Z