ORPHA:77293
Chronic visceral acid sphingomyelinase deficiency
Also known as: Chronic visceral ASMD · NPD-B · Niemann-Pick disease type B
Publications
532
83.5th percentile
Trials
1
Interventional, condition-specific
Researchers
1,141
Distinct authors in sample
Gene link
SMPD1
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011871
- MeSH:D052537
- OMIM:607616
- UMLS:C0268243
- NCIT:C126866
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — SMPD1
- LiteraturePresent
532 matched papers (274 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
532
532 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.
532 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).
274 in the last 10 years · high confidence · 83.5th percentile (publications denominator)
Phrase hits: 532 · MeSH hits: 11
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.
- 01Wasserstein MP13 papers · 2026
Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, US.
Papers in Europe PMC - 02Giugliani R12 papers · 2026
Medical Genetics Service, HCPA, Dep. Genetics, UFRGS and INAGEMP, Porto Alegre, Brazil.
Papers in Europe PMC - 03Lidove 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 - 04McGovern 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 - 05Schuchman EH9 papers · 2022
Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 06Cox GF7 papers · 2018
Clinical Development, Sanofi Genzyme, Cambridge, MA,United States. Electronic address: geraldcox17@yahoo.com.
Papers in Europe PMC - 07Hollak 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 - 08Sjouke B7 papers · 2025
Amsterdam UMC, University of Amsterdam, Department of Endocrinology and Metabolism, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Papers in Europe PMC - 09Cassiman D6 papers · 2026
Metabolic Center, University of Leuven, Leuven, Belgium.
Papers in Europe PMC - 10Eskes 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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th 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
- NCT06869499·NOT YET RECRUITING·Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease
Conditions: Splenomegaly · Splenectomy · Thrombopenia · Interstitial Lung Disease (ILD)·Matched via name phrase
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 2026-07-26This 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"
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" OR "SMPD1"
Recall-expansion terms: SMPD1
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, recall-expansion; 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