ORPHA:79239
Classic galactosemia
Publications
722
88.2th percentile
Trials
7
Interventional, condition-specific
Researchers
1,138
Distinct authors in sample
Gene link
GALT
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disorder of galactose metabolism characterized by onset of life-threatening disease triggered by breastfeeding or the ingestion of lactose/galactose-containing formula. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
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:0009258
- OMIM:230400
- UMLS:C0268151
Additional Mondo synonyms (4)
GALT deficiency · classic galactosemia · galactose-1-phosphate uridyltransferase deficiency · galactosemia type 1
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.
- Gene identifiedPresent
Definitive — GALT
- LiteraturePresent
722 matched papers (408 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 trialPresent
7 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 (GALT).
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?
722
722 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.
722 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).
408 in the last 10 years · high confidence · 88.2th percentile (publications denominator)
Phrase hits: 722 · MeSH hits: 0
Who's working on it?
1,138
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.
- 01Fridovich-Keil JL23 papers · 2026
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Papers in Europe PMC - 02Berry GT20 papers · 2025
Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 03Rubio-Gozalbo ME18 papers · 2026
Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Centre, P. Debyelaan 25, PO Box 5800, 6202 AZ, Maastricht, The Netherlands.
Papers in Europe PMC - 04Lai K17 papers · 2025
Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA.
Papers in Europe PMC - 05Balakrishnan B10 papers · 2025
Division of Medical Genetics/Pediatrics, University of Utah, Salt Lake City, UT, USA.
Papers in Europe PMC - 06Demirbas D10 papers · 2024
Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 07Coelho AI9 papers · 2022
Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Av. Prof. Gama Pinto, 1643-009, Lisbon, Portugal.
Papers in Europe PMC - 08Bosch AM7 papers · 2025
Division of Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 09
- 10
Clinical research
Is a treatment being tested?
7
interventional trials for this specific condition
7 interventional trials matched this specific condition name; none in our sample are currently recruiting. 1 trial are registered for galactosemia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).
high confidence · 89.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
7 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: galactosemia
1
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.
Observational and natural-history studies
3 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
- NCT07461519·RECRUITING·Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
Conditions: Galactosemia·Matched via name phrase
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 2026-07-26Likely covered — the policy lists Galactosemia as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 2 — long-term / lifelong lower-cost interventions
NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.
Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
"Classic galactosemia" OR "GALT deficiency" OR "galactose-1-phosphate uridyltransferase deficiency" OR "galactosemia type 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Classic galactosemia" OR "GALT deficiency" OR "galactose-1-phosphate uridyltransferase deficiency" OR "galactosemia type 1" OR "GALT"
Recall-expansion terms: GALT
Interventional trials matched via: phrase, 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: 7 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"galactosemia"
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 2026-07-27T02:07:04.179Z