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ORPHA:585

Multiple sulfatase deficiency

medium confidenceDisorder

Also known as: Austin disease · MSD · Mucosulfatidosis

Publications

1,244

85.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,261

Distinct authors in sample

Gene link

SUMF1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare lysosomal disease characterized by a clinical that combines the features of different sulfatase deficiencies (whether lysosomal or not). Clinical manifestations can include , neurologic deterioration, hydrocephalus, , coarse facial features, retinopathy, skeletal anomalies, and ichthyosis to a variable degree. Multiple sulfatase deficiency (MSD) comprises severe to attenuated forms historically classified as (most severe form), (most common form) or juvenile (rarest form).

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)

Multiple Sulfatase Deficiency · juvenile sulfatidosis, Austin type · mucosulfatidosis · multiple sulfatase deficiency disease · sulfatidosis, juvenile, Austin type

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — SUMF1

  2. LiteraturePresent

    1,244 matched papers (703 in last 10 years) Source

  3. Phenotype characterisedPresent

    63 HPO annotations (e.g. Large forehead; Anteverted nares; Hypoplastic vertebral bodies) Source

  4. Animal modelPresent

    1 genotype model (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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (SUMF1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

63

Associated phenotypes · MONDO:0010088

  • Large forehead
  • Anteverted nares
  • Hypoplastic vertebral bodies
  • Rapid neurologic deterioration
  • Cerebral atrophy

Showing 5 of 63 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

1,244

1,244 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=3967) is 59.

1,244 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).

703 in the last 10 years · medium confidence · 85.9th percentile (publications denominator)

Phrase hits: 680 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,261

Distinct author names in 200 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
    Schlotawa L27 papers · 2026

    Department of Pediatrics and Pediatric Neurology, Georg August University Göttingen, Göttingen, Germany.

    Papers in Europe PMC
  2. 02
    Adang LA14 papers · 2025

    Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: adangl@chop.edu.

    Papers in Europe PMC
  3. 03
    Radhakrishnan K13 papers · 2025

    Department of Cellular Biochemistry, University of Göttingen, Germany.

    Papers in Europe PMC
  4. 04
    Ballabio A12 papers · 2023

    Telethon Institute of Genetics and Medicine, Napoli, Italy. ballabio@tigem.it

    Papers in Europe PMC
  5. 05
    Dierks T12 papers · 2023

    Department of Chemistry, Biochemistry I, Bielefeld University, Germany.

    Papers in Europe PMC
  6. 06
    Ahrens-Nicklas RC9 papers · 2024

    Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

    Papers in Europe PMC
  7. 07
    Gärtner J8 papers · 2023

    Department of Paediatrics and Adolescent Medicine University Medical Center Göttingen Göttingen Germany.

    Papers in Europe PMC
  8. 08
    Vanderver A8 papers · 2026

    Department of Neurology, Children's National Health System, Washington, DC, USA.

    Papers in Europe PMC
  9. 09
    Ahrens-Nicklas R7 papers · 2025

    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  10. 10
    Gelb MH7 papers · 2024

    Dept. of Chemistry, University of Washington, Seattle, WA 98195, USA; Dept. of Biochemistry, University of Washington, Seattle, WA 98195, USA. Electronic address: gelb@uw.edu.

    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. 4 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

4 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 41 · 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 Multiple sulfatase deficiency — 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.

("Multiple sulfatase deficiency" OR "Austin disease" OR "Mucosulfatidosis" OR "juvenile sulfatidosis, Austin type" OR "multiple sulfatase deficiency disease" OR "sulfatidosis, juvenile, Austin type") OR ("SUMF1" OR "SUMF1 syndrome" OR "SUMF1-related")

Run this search on Europe PMC

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

"Multiple sulfatase deficiency" OR "Austin disease" OR "Mucosulfatidosis" OR "juvenile sulfatidosis, Austin type" OR "multiple sulfatase deficiency disease" OR "sulfatidosis, juvenile, Austin type"

Study-type breakdown: 0 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MSD

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 2026-07-26T14:27:49.364Z