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ORPHA:79255

GM1 gangliosidosis type 1

high confidenceSubtype of disorder

Also known as: Infantile GM1 gangliosidosis · Norman-Landing disease

Publications

218

64.5th percentile

Trials

1

Interventional, condition-specific

Researchers

1,008

Distinct authors in sample

Gene link

GLB1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

GM1 gangliosidosis type 1 is the severe form of GM1 gangliosidosis with variable neurological and systemic manifestations.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

infantile GM1 gangliosidosis

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.

  1. Gene identifiedPresent

    Strong — GLB1

  2. LiteraturePresent

    218 matched papers (89 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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 (GLB1).

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?

218

218 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

218 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).

89 in the last 10 years · high confidence · 64.5th percentile (publications denominator)

Phrase hits: 218 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,008

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
    Tifft CJ13 papers · 2026

    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  2. 02
    d'Azzo A10 papers · 2021

    Department of Genetics, St. Jude Children's Research Hospital, Memphis, Tennessee 38105.

    Papers in Europe PMC
  3. 03
    Giugliani R7 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Morrone A7 papers · 2024

    Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.

    Papers in Europe PMC
  5. 05
    Whitley CB7 papers · 2021

    University of Minnesota, Department of Experimental and Clinical Pharmacology, College of Pharmacy, 420 Delaware St SE, MMC 446, Minneapolis, MN 55455-0341, USA; Advanced Therapies Program, University of Minnesota (UMMC) and Fairview Hospitals, Minneapolis, MN 55454, USA; University of Minnesota, College of Pharmacy, 420 Delaware St SE, MMC 391, Minneapolis, MN 55455-0341, USA; Gene Therapy Center, University of Minnesota, 420 Delaware St SE, MMC 391, Minneapolis, MN 55455-0341, USA; University of Minnesota, Department of Pediatrics, Medical School, 420 Delaware St SE, MMC 446, Minneapolis, MN 55455-0341, USA.

    Papers in Europe PMC
  6. 06
    Okada S6 papers · 1990
    Papers in Europe PMC
  7. 07
    Suzuki Y6 papers · 2014

    International University of Health and Welfare Graduate School, Kita Kanemaru, Otawara, 324-8501 Japan.

    Papers in Europe PMC
  8. 08
    Johnston JM5 papers · 2026

    Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.

    Papers in Europe PMC
  9. 09
    Wenger DA5 papers · 1994
    Papers in Europe PMC
  10. 10
    Yabuuchi H5 papers · 1985
    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. 7 trials are registered for GM1 gangliosidosis, 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: GM1 gangliosidosis

7

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

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 2026-07-26

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.

"GM1 gangliosidosis type 1" OR "Infantile GM1 gangliosidosis" OR "Norman-Landing disease"

Run this search on Europe PMC

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

"GM1 gangliosidosis type 1" OR "Infantile GM1 gangliosidosis" OR "Norman-Landing disease" OR "GLB1"

Recall-expansion terms: GLB1

Interventional trials matched via: recall-expansion (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:

"GM1 gangliosidosis"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-27T02:08:47.884Z