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ORPHA:77292

Infantile neurovisceral acid sphingomyelinase deficiency

high confidenceDisorder

Also known as: Infantile neurovisceral ASMD · NPD-A · Niemann-Pick disease type A

Publications

15,123

96.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,404

Distinct authors in sample

Gene link

SMPD1

Definitive

Readiness

5/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — SMPD1

  2. LiteraturePresent

    15,123 matched papers (9,356 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Inability to walk; Delayed CNS myelination; Cherry red spot of the macula) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    2 FDA designations (2 FDA orphan-indication approvals) — e.g. Trans-Cinnamic Acid Source

  6. 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)

37

Associated phenotypes · MONDO:0009756

  • Inability to walk
  • Delayed CNS myelination
  • Cherry red spot of the macula
  • Elevated circulating alanine aminotransferase concentration
  • Osteoporosis

Showing 5 of 37 — 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)

2

Designations · 2 with FDA orphan-indication approval

  • FDA Trans-Cinnamic Acidniemann-pick disease type a · 2020-11-24 · Not FDA Approved for Orphan Indication
  • FDA olipudase alfaSphingomyelinase deficiency Sphingomyelinase Deficiency · 2000-08-03 · Not FDA Approved for Orphan Indication

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?

15,123

15,123 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=3967) is 59.

15,123 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).

9,356 in the last 10 years · high confidence · 96.9th percentile (publications denominator)

Phrase hits: 13,417 · MeSH hits: 155

Open Europe PMC search

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.

  1. 01
    Porter 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
  2. 02
    Mengel E9 papers · 2026

    Institute of Clinical Science in LSD, SphinCS, Hochheim, Germany.

    Papers in Europe PMC
  3. 03
    Berry-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
  4. 04
    Giugliani 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
  5. 05
    Cawley 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
  6. 06
    Bremova-Ertl T6 papers · 2026

    Department of Neurology, University Hospital Bern (Inselspital), Switzerland.

    Papers in Europe PMC
  7. 07
    Gautschi 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
  8. 08
    Platt F6 papers · 2026

    Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK.

    Papers in Europe PMC
  9. 09
    Walterfang M6 papers · 2026

    Neuropsychiatry Centre, Royal Melbourne Hospital, Melbourne, VIC, Australia; Department of Psychiatry, University of Melbourne, Melbourne, VIC, Australia.

    Papers in Europe PMC
  10. 10
    Alexander 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 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.

high 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.

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

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.

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 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 Infantile neurovisceral 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.

("Infantile neurovisceral acid sphingomyelinase deficiency" OR "Infantile neurovisceral ASMD" OR "NPD-A" OR "Niemann-Pick disease type A") OR (MESH:"Niemann-Pick Disease, Type A") 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 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"

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; 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