ORPHA:723106
Biochemical variant galactosemia
Also known as: Duarte D2 variant · Duarte galactosemia · Duarte variant galactosemia
Publications
122
57.5th percentile
Trials
0
Interventional, condition-specific
Researchers
619
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A form GALT deficiency characterized by high residual GALT activity (typically 25-30% of control activity) in otherwise asymptomatic patients. No follow-up is required.
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
122 matched papers (61 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
122
122 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.
122 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).
61 in the last 10 years · high confidence · 57.5th percentile (publications denominator)
Phrase hits: 122 · MeSH hits: 0
Who's working on it?
619
Distinct author names in 122 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.
- 01Fridovich-Keil JL18 papers · 2026
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. jfridov@emory.edu
Papers in Europe PMC - 02Berry GT10 papers · 2025
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 03Potter NL7 papers · 2022
Department of Speech and Hearing Sciences, Washington State University, Spokane, WA, USA.
Papers in Europe PMC - 04Reichardt JK6 papers · 1995
Department of Biochemistry, Stanford University Medical Center, CA 94305.
Papers in Europe PMC - 05
- 06
- 07Elsas LJ 2nd4 papers · 1998
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322.
Papers in Europe PMC - 08Ficicioglu C4 papers · 2022
The Section of Biochemical Genetics and the Metabolic Research Laboratory, The Children's Hospital of Philadelphia, The Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Papers in Europe PMC - 09Gubbels CS4 papers · 2021
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 10Rubio-Gozalbo ME4 papers · 2025
Department of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands.
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. 1 observational study 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.
high 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
1 observational study matches 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.
"Biochemical variant galactosemia" OR "Duarte D2 variant" OR "Duarte galactosemia" OR "Duarte variant galactosemia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Biochemical variant galactosemia" OR "Duarte D2 variant" OR "Duarte galactosemia" OR "Duarte variant galactosemia"
Study-type breakdown: 0 interventional · 1 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T21:19:23.874Z