RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:351

Galactosialidosis

low confidenceDisorder

Also known as: Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

Publications

26,032

Trials

0

Interventional, condition-specific

Researchers

1,345

Distinct authors in sample

Gene link

CTSA

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly form to late onset, slowly juvenile/adult form.

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 (2)

galactosialidosis · neuraminidase deficiency with beta-galactosidase deficiency

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — CTSA

  2. LiteraturePresent

    26,032 matched papers (16,295 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Nonimmune hydrops fetalis; Cherry red spot of the macula; Visceromegaly) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (CTSA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

23

Associated phenotypes · MONDO:0009737

  • Nonimmune hydrops fetalis
  • Cherry red spot of the macula
  • Visceromegaly
  • Coarse facial features
  • Hepatosplenomegaly

Showing 5 of 23 — 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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

26,032

26,032 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.

26,032 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).

16,295 in the last 10 years · low confidence

Phrase hits: 1,271 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,345

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
    d'Azzo A6 papers · 2021

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

    Papers in Europe PMC
  2. 02
    Itoh K6 papers · 2026

    Department of Medicinal Biotechnology, Institute for Medicinal Research, Graduate School of Pharmaceutical Sciences, Tokushima University.

    Papers in Europe PMC
  3. 03
    Annunziata I4 papers · 2021

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

    Papers in Europe PMC
  4. 04
    Tsukimoto J4 papers · 2026

    Department of Medicinal Biotechnology, Institute for Medicinal Research, Graduate School of Pharmaceutical Sciences, Tokushima University, Tokushima, Japan.

    Papers in Europe PMC
  5. 05
    Al-Kouatly HB3 papers · 2025

    Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA. huda.al-kouatly@jefferson.edu.

    Papers in Europe PMC
  6. 06
    Faivre L3 papers · 2025

    INSERM, Genetics of Developmental Anomalies, Université de Bourgogne, Dijon, France.

    Papers in Europe PMC
  7. 07
    Giugliani R3 papers · 2026

    Laboratorio Anthony Daher, Casa Dos Raros, Rua São Manoel 730, Porto Alegre, RS, 90610-261, Brazil.

    Papers in Europe PMC
  8. 08
    Gorelik A3 papers · 2025

    Department of Biochemistry, McGill University, Montreal, Quebec, Canada.

    Papers in Europe PMC
  9. 09
    Mosca R3 papers · 2021

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

    Papers in Europe PMC
  10. 10
    Nagar B3 papers · 2025

    Department of Biochemistry, McGill University, Montreal, Quebec, Canada. bhushan.nagar@mcgill.ca mohammad.mazhabjafari@utoronto.ca.

    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. 5 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

5 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.

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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Galactosialidosis — 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.

("Galactosialidosis" OR "Goldberg syndrome" OR "Neuraminidase deficiency with beta-galactosidase deficiency") OR ("CTSA" OR "CTSA syndrome" OR "CTSA-related")

Run this search on Europe PMC

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

"Galactosialidosis" OR "Goldberg syndrome" OR "Neuraminidase deficiency with beta-galactosidase deficiency"

Study-type breakdown: 0 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (26032) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:31:02.015Z