ORPHA:77292
Infantile neurovisceral acid sphingomyelinase deficiency
Also known as: Infantile neurovisceral ASMD · NPD-A · Niemann-Pick disease type A
Publications
13,417
98.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,404
Distinct authors in sample
Gene link
SMPD1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, , acid sphingomyelinase deficiency characterized clinically by onset in infancy or early childhood with , , interstitial lung disease and rapidly 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:0009756
- MeSH:D052536
- OMIM:257200
- UMLS:C0268242
- NCIT:C126561
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — SMPD1
- LiteraturePresent
13,417 matched papers (7,993 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 trialPartial
None under the specific name; 9 for broader category acid sphingomyelinase deficiency
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: 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?
13,417
13,417 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
13,417 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).
7,993 in the last 10 years · high confidence · 98.3th percentile (publications denominator)
Phrase hits: 13,417 · MeSH hits: 155
Who's working on it?
1,404
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.
- 01Porter FD16 papers · 2026
Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 02Mengel E9 papers · 2026
Institute of Clinical Science in LSD, SphinCS, Hochheim, Germany.
Papers in Europe PMC - 03Berry-Kravis E8 papers · 2026
Department of Pediatrics, Neurological Sciences and Anatomy and Cell Biology, Rush University Medical Center, Chicago, Illinois, USA.
Papers in Europe PMC - 04Giugliani R8 papers · 2026
BioDiscovery and DR BRASIL Research Group, HCPA, Department of Genetics and PPGBM, UFRGS, INAGEMP, DASA, and Casa Dos Raros, Porto Alegre, Brazil.
Papers in Europe PMC - 05Cawley NX7 papers · 2026
Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 06Bremova-Ertl T6 papers · 2026
Department of Neurology, University Hospital Bern (Inselspital), Switzerland.
Papers in Europe PMC - 07Gautschi M6 papers · 2026
Swiss Reference Centre for Inborn Errors of Metabolism, Site Bern, INSELSPITAL, Department of Paediatrics, Division of Paediatric Endocrinology, Diabetology and Metabolism, University Hospital Bern, Julie-von-Jenner Haus, Bern, Switzerland.
Papers in Europe PMC - 08Platt F6 papers · 2026
Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK.
Papers in Europe PMC - 09Walterfang M6 papers · 2026
Neuropsychiatry Centre, Royal Melbourne Hospital, Melbourne, VIC, Australia; Department of Psychiatry, University of Melbourne, Melbourne, VIC, Australia.
Papers in Europe PMC - 10Alexander D5 papers · 2026
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Human Health and Services, Bethesda, Maryland, USA.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 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
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
9 interventional trials matched acid sphingomyelinase deficiency, the broader category — listed below. Those studies are not counted in the condition-specific total.
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
Observational and natural-history studies
1 observational study matches 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.
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.
"Infantile neurovisceral acid sphingomyelinase deficiency" OR "Infantile neurovisceral ASMD" OR "NPD-A" OR "Niemann-Pick disease type A"
MeSH descriptor terms unioned into the query: Niemann-Pick Disease, Type A
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Infantile neurovisceral acid sphingomyelinase deficiency" OR "Infantile neurovisceral ASMD" OR "NPD-A" OR "Niemann-Pick disease type A" OR "Niemann-Pick Disease, Type A" OR "SMPD1"
Recall-expansion terms: SMPD1
Study-type breakdown: 0 interventional · 1 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 2026-07-27T01:52:35.236Z