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ORPHA:333

Farber disease

low confidenceDisorder

Also known as: Acid ceramidase deficiency · Farber lipogranulomatosis

Publications

2,934

Trials

0

Interventional, condition-specific

Researchers

1,179

Distinct authors in sample

Gene link

ASAH1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

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.

Additional Mondo synonyms (2)

N-LAURYLSPHINGOSINE deacylase deficiency · acid ceramidase deficiency

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

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 — ASAH1

  2. LiteraturePresent

    2,934 matched papers (2,177 in last 10 years) Source

  3. Phenotype characterisedPresent

    93 HPO annotations (e.g. Limitation of knee mobility; Failure to thrive; Irritability) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. recombinant human acid ceramidase 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 (ASAH1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

93

Associated phenotypes · MONDO:0009218

  • Limitation of knee mobility
  • Failure to thrive
  • Irritability
  • Hoarse voice
  • Lipogranulomatosis

Showing 5 of 93 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA recombinant human acid ceramidaseTreatment of Farber disease · 19/02/2014 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

2,934

2,934 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.

2,934 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).

2,177 in the last 10 years · low confidence

Phrase hits: 614 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,179

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
    Levade T23 papers · 2025

    Laboratoire de Biochimie Métabolique, Institut Fédératif de Biologie, CHU Purpan, and INSERM UMR1037 CRCT, Université de Toulouse , Toulouse , France.

    Papers in Europe PMC
  2. 02
    Medin JA19 papers · 2025

    Department of Medical Biophysics, University of Toronto, Toronto, ON M5S, Canada.

    Papers in Europe PMC
  3. 03
    Schuchman EH11 papers · 2025

    Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.

    Papers in Europe PMC
  4. 04
    Dworski S7 papers · 2022

    Institute of Medical Science, University of Toronto, Toronto, Canada.

    Papers in Europe PMC
  5. 05
    Mckillop WM6 papers · 2025

    Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.

    Papers in Europe PMC
  6. 06
    Rybova J6 papers · 2025

    Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.

    Papers in Europe PMC
  7. 07
    Solyom A6 papers · 2022

    Enzyvant Sciences, NY, New York, USA.

    Papers in Europe PMC
  8. 08
    Ehlert K5 papers · 2020

    University Children's Hospital Muenster, Department of Pediatric Hematology and Oncology, Albert-Schweitzer-Strasse 33, D-48149 Muenster, Germany. ehlertk@mednet.uni-muenster.de

    Papers in Europe PMC
  9. 09
    Sikora J5 papers · 2022

    Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Charles University, First Faculty of Medicine , Prague , Czech Republic.

    Papers in Europe PMC
  10. 10
    Yu FPS5 papers · 2019

    Institute of Medical Science, University of Toronto , Toronto, Ontario , Canada.

    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. 3 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.

low 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

3 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Farber disease — 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.

("Farber disease" OR "Acid ceramidase deficiency" OR "Farber lipogranulomatosis" OR "N-LAURYLSPHINGOSINE deacylase deficiency") OR ("ASAH1" OR "ASAH1 syndrome" OR "ASAH1-related")

Run this search on Europe PMC

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

"Farber disease" OR "Acid ceramidase deficiency" OR "Farber lipogranulomatosis" OR "N-LAURYLSPHINGOSINE deacylase deficiency"

Study-type breakdown: 0 interventional · 3 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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2934) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T13:26:58.188Z