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ORPHA:354

GM1 gangliosidosis

low confidenceDisorder

Also known as: Beta-galactosidase-1 deficiency · GLB1 deficiency · Landing disease

Publications

4,909

Trials

9

Interventional, condition-specific

Researchers

1,308

Distinct authors in sample

Gene link

GLB1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and features.

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 (3)

GM>1< gangliosidosis · Landing syndrome · gangliosidosis GM1

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — GLB1

  2. LiteraturePresent

    4,909 matched papers (2,765 in last 10 years) Source

  3. Phenotype characterisedPresent

    238 HPO annotations (e.g. Intrauterine growth retardation; Mild intellectual disability; Dystonia) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    4 EMA designations (none yet with FDA orphan-indication approval) — e.g. nizubaglustat Source

  6. Interventional trialPresent

    9 matched on ClinicalTrials.gov (3 recruiting in sample)

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: Definitive.

Phenotypes (Monarch / HPO)

238

Associated phenotypes · MONDO:0018149

  • Intrauterine growth retardation
  • Mild intellectual disability
  • Dystonia
  • Hepatomegaly
  • Hypoplastic acetabulae

Showing 5 of 238 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

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)

4

Designations · no FDA orphan-indication approval yet

  • EMA nizubaglustatTreatment of GM1 gangliosidosis · 28/06/2024 · PositiveEMA designation
  • EMA Adeno-associated viral vector serotype rh.10 expressing beta-galactosidaseTreatment of GM1 gangliosidosis · 20/03/2017 · PositiveEMA designation
  • EMA adeno-associated virus serotype hu68 containing the human GLB1 geneTreatment of GM1 gangliosidosis · 19/10/2020 · PositiveEMA designation
  • EMA acetylleucineTreatment of GM1 gangliosidosis · 11/10/2022 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

15

Drugs / clinical candidates · MONDO_0018149

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,909

4,909 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.

4,909 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).

2,765 in the last 10 years · low confidence

Phrase hits: 2,426 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,308

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 CJ22 papers · 2026

    Glycosphingolipid and Glycoprotein Disorders Unit, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

    Papers in Europe PMC
  2. 02
    Acosta MT15 papers · 2026

    Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.

    Papers in Europe PMC
  3. 03
    Johnston JM13 papers · 2026

    Department of Genetics and Metabolism, Rare Disease Institute, Children's National Medical Center, Washington, DC, United States of America.

    Papers in Europe PMC
  4. 04
    Shazeeb MS12 papers · 2026

    Department of Radiology, UMass Chan Medical School, Worcester, Massachusetts, USA.

    Papers in Europe PMC
  5. 05
    D'Souza P11 papers · 2026

    Medical Genetics Branch and Office of the Clinical Director, NHGRI, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, 20892, USA.

    Papers in Europe PMC
  6. 06
    Lewis CJ11 papers · 2026

    Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  7. 07
    Vardar Z10 papers · 2026

    Department of Radiology, UMass Chan Medical School, Worcester, Massachusetts, USA.

    Papers in Europe PMC
  8. 08
    Gahl WA9 papers · 2026

    Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  9. 09
    Jiang X9 papers · 2026

    Department of Medicine, Washington University School of Medicine, Saint Louis, MO, United States.

    Papers in Europe PMC
  10. 10
    Martin DR9 papers · 2026

    Scott Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, AL 36849, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 9 trials are registered for gangliosidosis, 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

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

low confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

9 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: gangliosidosis

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

9 observational studies match 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.

Recruiting or not-yet-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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (1)

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 GM1 gangliosidosis — 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.

("GM1 gangliosidosis" OR "Beta-galactosidase-1 deficiency" OR "GLB1 deficiency" OR "Landing disease" OR "GM>1< gangliosidosis" OR "Landing syndrome" OR "gangliosidosis GM1") OR ("GLB1" OR "GLB1 syndrome" OR "GLB1-related" OR "GM1 syndrome" OR "GM1-related")

Run this search on Europe PMC

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

"GM1 gangliosidosis" OR "Beta-galactosidase-1 deficiency" OR "GLB1 deficiency" OR "Landing disease" OR "GM>1< gangliosidosis" OR "Landing syndrome" OR "gangliosidosis GM1"

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

Study-type breakdown: 9 interventional · 9 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"gangliosidosis"

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

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
  • Publication count (4909) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:31:51.509Z