ORPHA:351
Galactosialidosis
Also known as: Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,271
Trials
0
Interventional, condition-specific
Researchers
1,345
Distinct authors in sample
Gene link
CTSA
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009737
- MeSH:C536411
- OMIM:256540
- UMLS:C0268233
- NCIT:C129928
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.”
2/6 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.
- Gene identifiedPresent
Definitive — CTSA
- LiteraturePresent
1,271 matched papers (594 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 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)
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?
1,271
1,271 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=5449) is 41.
1,271 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).
594 in the last 10 years · low confidence
Phrase hits: 1,271 · MeSH hits: 0
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.
- 01d'Azzo A6 papers · 2021
Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Papers in Europe PMC - 02Itoh K6 papers · 2026
Department of Medicinal Biotechnology, Institute for Medicinal Research, Graduate School of Pharmaceutical Sciences, Tokushima University.
Papers in Europe PMC - 03Annunziata I4 papers · 2021
Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Papers in Europe PMC - 04Tsukimoto J4 papers · 2026
Department of Medicinal Biotechnology, Institute for Medicinal Research, Graduate School of Pharmaceutical Sciences, Tokushima University, Tokushima, Japan.
Papers in Europe PMC - 05Al-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 - 06Faivre L3 papers · 2025
INSERM, Genetics of Developmental Anomalies, Université de Bourgogne, Dijon, France.
Papers in Europe PMC - 07Giugliani R3 papers · 2026
Laboratorio Anthony Daher, Casa Dos Raros, Rua São Manoel 730, Porto Alegre, RS, 90610-261, Brazil.
Papers in Europe PMC - 08Gorelik A3 papers · 2025
Department of Biochemistry, McGill University, Montreal, Quebec, Canada.
Papers in Europe PMC - 09Mosca R3 papers · 2021
Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Papers in Europe PMC - 10Nagar 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 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.
low 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.
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.
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.
"Galactosialidosis" OR "Goldberg syndrome" OR "Neuraminidase deficiency with beta-galactosidase deficiency"
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" OR "CTSA"
Recall-expansion terms: CTSA
Study-type breakdown: 0 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 (1271) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T13:31:02.015Z