ORPHA:71277
Classic glucose transporter type 1 deficiency syndrome
Also known as: Classic GLUT1 deficiency syndrome · Classic GLUT1-DS · De Vivo disease · Encephalopathy due to GLUT1 deficiency
Publications
651
90th percentile
Trials
17
Interventional, condition-specific
Researchers
1,164
Distinct authors in sample
Gene link
SLC2A1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare inborn error of metabolism characterized by due to impaired glucose transport into neural cells. The most frequent clinical manifestations are , and movement disorder.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011724
- MeSH:C536830
- OMIM:606777
- UMLS:C4551966
Additional Mondo synonyms (7)
GLUT1 deficiency syndrome 1, infantile onset, severe · GLUT1 deficiency syndrome type 1 · GLUT1-DS · Glucose Transporter Type 1 Deficiency Syndrome · encephalopathy due to GLUT1 deficiency · glucose transporter type 1 deficiency · glut-1 deficiency syndrome
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 — SLC2A1
- LiteraturePresent
651 matched papers (492 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
17 matched on ClinicalTrials.gov (1 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 (SLC2A1).
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?
651
651 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.
651 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).
492 in the last 10 years · high confidence · 90th percentile (publications denominator)
Phrase hits: 628 · MeSH hits: 32
Who's working on it?
1,164
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.
- 01De Giorgis V13 papers · 2026
Brain and Behaviour Department, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 02Veggiotti P12 papers · 2026
Brain and Behaviour Department, University of Pavia, Pavia, Italy Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy pierangelo.veggiotti@unipv.it.
Papers in Europe PMC - 03Pasca L9 papers · 2026
Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.
Papers in Europe PMC - 04Tagliabue A9 papers · 2026
Human Nutrition and Eating Disorder Centre, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 05Varesio C9 papers · 2026
Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy.
Papers in Europe PMC - 06Ferraris C7 papers · 2024
Human Nutrition and Eating Disorder Centre, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 07Guglielmetti M7 papers · 2025
Department of Public Health, Experimental and Forensic Medicine, Human Nutrition and Eating Disorder Research Center, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 08
- 09Olivotto S6 papers · 2025
Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy.
Papers in Europe PMC - 10Previtali R6 papers · 2026
Pediatric Neurology Unit, "V. Buzzi" Hospital, Milan, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
17
interventional trials for this specific condition
17 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
17 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.9th percentile).
high confidence · 93.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
17 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07432490·RECRUITING·A Phase II Study With Exploratory Outcomes of Fucose Supplementation in GLUT1 Deficiency Syndrome
Conditions: Glut1 Deficiency · GLUT1DS1·Matched via MeSH
Observational and natural-history studies
6 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
- NCT05085704·RECRUITING·Brain Metabolism Observed at 3 Tesla or 7 Tesla in Health and Metabolic Disease
Conditions: Glut1 Deficiency Syndrome 1 · Glucose Metabolism Disorders · Epilepsy · Glut1 Deficiency Syndrome 1, Autosomal Recessive·Matched via name + MeSH
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.
"Classic glucose transporter type 1 deficiency syndrome" OR "Classic GLUT1 deficiency syndrome" OR "Classic GLUT1-DS" OR "De Vivo disease" OR "Encephalopathy due to GLUT1 deficiency" OR "GLUT1 deficiency syndrome 1, infantile onset, severe" OR "GLUT1 deficiency syndrome type 1" OR "GLUT1-DS" OR "Glucose Transporter Type 1 Deficiency Syndrome" OR "glucose transporter type 1 deficiency" OR "glut-1 deficiency syndrome"
MeSH descriptor terms unioned into the query: Glut1 Deficiency Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Classic glucose transporter type 1 deficiency syndrome" OR "Classic GLUT1 deficiency syndrome" OR "Classic GLUT1-DS" OR "De Vivo disease" OR "Encephalopathy due to GLUT1 deficiency" OR "GLUT1 deficiency syndrome 1, infantile onset, severe" OR "GLUT1 deficiency syndrome type 1" OR "GLUT1-DS" OR "Glucose Transporter Type 1 Deficiency Syndrome" OR "glucose transporter type 1 deficiency" OR "glut-1 deficiency syndrome" OR "Glut1 Deficiency Syndrome" OR "SLC2A1"
Recall-expansion terms: SLC2A1
Interventional trials matched via: both, phrase, mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 17 interventional · 6 observational · 2 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, 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 2026-07-27T01:40:45.848Z