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ORPHA:77293

Chronic visceral acid sphingomyelinase deficiency

high confidenceDisorder

Also known as: Chronic visceral ASMD · NPD-B · Niemann-Pick disease type B

Publications

2,577

90.3th percentile

Trials

1

Interventional, condition-specific

Researchers

1,141

Distinct authors in sample

Gene link

SMPD1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare , chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with , growth retardation, interstitial lung disease and absence of neurodegenerative disorders.

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 (1)

type B Niemann-Pick disease

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

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

  1. Gene identifiedPresent

    Strong — SMPD1

  2. LiteraturePresent

    2,577 matched papers (1,868 in last 10 years) Source

  3. Phenotype characterisedPresent

    68 HPO annotations (e.g. Foam cells with lamellar inclusion bodies; Abnormal pulmonary interstitial morphology; Abnormal macular morphology) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 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 (SMPD1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

68

Associated phenotypes · MONDO:0011871

  • Foam cells with lamellar inclusion bodies
  • Abnormal pulmonary interstitial morphology
  • Abnormal macular morphology
  • Bone-marrow foam cells
  • Elevated circulating lysosphingomyelin concentration

Showing 5 of 68 — 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)

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

2

Drugs / clinical candidates · MONDO_0011871

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,577

2,577 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.

2,577 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).

1,868 in the last 10 years · high confidence · 90.3th percentile (publications denominator)

Phrase hits: 532 · MeSH hits: 11

Open Europe PMC search

Who's working on it?

1,141

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
    Wasserstein MP13 papers · 2026

    Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, US.

    Papers in Europe PMC
  2. 02
    Giugliani R12 papers · 2026

    Medical Genetics Service, HCPA, Dep. Genetics, UFRGS and INAGEMP, Porto Alegre, Brazil.

    Papers in Europe PMC
  3. 03
    Lidove O12 papers · 2026

    Service de médecine interne-rhumatologie, hôpital de la Croix-Saint-Simon, 125, rue d'Avron, 75020 Paris, France. Electronic address: olidove@hopital-dcss.org.

    Papers in Europe PMC
  4. 04
    McGovern MM9 papers · 2021

    Department of Pediatrics, Stony Brook University School of Medicine, Stony Brook, NY, 11794, USA. Margaret.McGovern@stonybrook.edu.

    Papers in Europe PMC
  5. 05
    Schuchman EH9 papers · 2022

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

    Papers in Europe PMC
  6. 06
    Cox GF7 papers · 2018

    Clinical Development, Sanofi Genzyme, Cambridge, MA,United States. Electronic address: geraldcox17@yahoo.com.

    Papers in Europe PMC
  7. 07
    Hollak CEM7 papers · 2025

    Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address: c.e.hollak@amc.nl.

    Papers in Europe PMC
  8. 08
    Sjouke B7 papers · 2025

    Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

    Papers in Europe PMC
  9. 09
    Cassiman D6 papers · 2026

    Metabolic Center, University of Leuven, Leuven, Belgium.

    Papers in Europe PMC
  10. 10
    Eskes ECB6 papers · 2025

    Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 9 trials are registered for acid sphingomyelinase deficiency, 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

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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: acid sphingomyelinase deficiency

9

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

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 Chronic visceral acid sphingomyelinase 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.

("Chronic visceral acid sphingomyelinase deficiency" OR "Chronic visceral ASMD" OR "NPD-B" OR "Niemann-Pick disease type B" OR "type B Niemann-Pick disease") OR (MESH:"Niemann-Pick Disease, Type B") OR ("SMPD1" OR "SMPD1 syndrome" OR "SMPD1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Niemann-Pick Disease, Type B

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

"Chronic visceral acid sphingomyelinase deficiency" OR "Chronic visceral ASMD" OR "NPD-B" OR "Niemann-Pick disease type B" OR "type B Niemann-Pick disease" OR "Niemann-Pick Disease, Type B"

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

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"acid sphingomyelinase deficiency"

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

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 2026-07-27T01:52:48.900Z