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ORPHA:583

Mucopolysaccharidosis type 6

medium confidenceDisorder

Also known as: ARSB deficiency · ASB deficiency · Arylsulfatase B deficiency · MPS6 · MPSVI · Maroteaux-Lamy disease · Mucopolysaccharidosis type VI · N-acetylgalactosamine 4-sulfatase deficiency

Publications

1,217

90.3th percentile

Trials

8

Interventional, condition-specific

Researchers

1,143

Distinct authors in sample

Gene link

ARSB

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare lysosomal storage disease characterized by a wide spectrum of manifestations, notably skeletal including short stature, dysostosis multiplex and degenerative joint disease, with multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate and chondroitin-4-sulfate.

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)

Maroteaux Lamy Syndrome · Maroteaux-Lamy syndrome · arylsulfatase B deficiency · mucopolysaccharidosis type VI · mucopolysaccharidosis type VI (Maroteaux-Lamy)

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 — ARSB

  2. LiteraturePresent

    1,217 matched papers (510 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

    8 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 (ARSB).

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?

1,217

1,217 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.

1,217 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).

510 in the last 10 years · medium confidence · 90.3th percentile (publications denominator)

Phrase hits: 1,217 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,143

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 R5 papers · 2024

    Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, DASA e Casa dos Raros, Porto Alegre 90610-150, Brazil.

    Papers in Europe PMC
  2. 02
    Harmatz P5 papers · 2025

    UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA. Electronic address: pharmatz@mail.cho.org.

    Papers in Europe PMC
  3. 03
    Jurecka A5 papers · 2014

    Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland; Department of Genetics, University of Gdańsk, Gdańsk, Poland.

    Papers in Europe PMC
  4. 04
    Leão-Teles E5 papers · 2026

    Centro de Referência de Doenças Hereditárias do Metabolismo (DHM), Centro Hospitalar Universitário de São João (CHUSJ), 4200-319 Porto, Portugal.

    Papers in Europe PMC
  5. 05
    Parini R5 papers · 2025

    Department of Paediatrics, Fondazione MBBM San Gerardo Hospital, Monza, Italy.

    Papers in Europe PMC
  6. 06
    Tylki-Szymańska A5 papers · 2022

    Department of Paediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.

    Papers in Europe PMC
  7. 07
    Harmatz PR4 papers · 2025

    Department of Gastroenterology, UCSF Benioff Children's Hospital Oakland, Oakland, California, USA.

    Papers in Europe PMC
  8. 08
    Lampe C4 papers · 2025

    Department of Child Neurology, Justus-Liebig University, Gieβen, Germany.

    Papers in Europe PMC
  9. 09
    Zakharova E4 papers · 2025

    Federal State Budgetary Scientific Institution "Research Center for Medical Genetics", Moscow, Russia.

    Papers in Europe PMC
  10. 10
    Golda A3 papers · 2014

    Department of Cardiology, Congenital Heart Diseases and Electrotherapy, Silesian Center for Heart Diseases, Zabrze, Poland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; none in our sample are currently recruiting. 102 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

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

medium confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

8 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

102

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.

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

Open the complete matched search on ClinicalTrials.gov

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

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 6" OR "ARSB deficiency" OR "ASB deficiency" OR "Arylsulfatase B deficiency" OR "MPSVI" OR "Maroteaux-Lamy disease" OR "Mucopolysaccharidosis type VI" OR "N-acetylgalactosamine 4-sulfatase deficiency" OR "Maroteaux Lamy Syndrome" OR "Maroteaux-Lamy syndrome" OR "mucopolysaccharidosis type VI (Maroteaux-Lamy)"

Run this search on Europe PMC

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

"Mucopolysaccharidosis type 6" OR "ARSB deficiency" OR "ASB deficiency" OR "Arylsulfatase B deficiency" OR "MPSVI" OR "Maroteaux-Lamy disease" OR "Mucopolysaccharidosis type VI" OR "N-acetylgalactosamine 4-sulfatase deficiency" OR "Maroteaux Lamy Syndrome" OR "Maroteaux-Lamy syndrome" OR "mucopolysaccharidosis type VI (Maroteaux-Lamy)" OR "ARSB"

Recall-expansion terms: ARSB

Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

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

Parent-category trials query:

"mucopolysaccharidosis"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MPS6

Confidence reasoning

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

Ingested 2026-07-26T14:27:05.730Z