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ORPHA:35710

Glucose-galactose malabsorption

low confidenceDisorder

Also known as: CGGM · Congenital glucose-galactose malabsorption · GGM · SGLT1 deficiency

Publications

3,194

Trials

0

Interventional, condition-specific

Researchers

1,427

Distinct authors in sample

Gene link

SLC5A1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, potentially lethal, disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset in the period.

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 (1)

glucose-galactose malabsorption

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — SLC5A1

  2. LiteraturePresent

    3,194 matched papers (2,026 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Failure to thrive; Osmotic diarrhea; Malnutrition) Source

  4. Animal modelPresent

    7 genotype models (Rattus norvegicus) Source

  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 (SLC5A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0011731

  • Failure to thrive
  • Osmotic diarrhea
  • Malnutrition
  • Hypernatremia
  • Weight loss

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

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?

3,194

3,194 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=3967) is 59.

3,194 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).

2,026 in the last 10 years · low confidence

Phrase hits: 741 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,427

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
    Kim HJ5 papers · 2026

    Department of Molecular Medicine, School of Medicine, Kyungpook National University, Daegu 41944, Republic of Korea.

    Papers in Europe PMC
  2. 02
    Kim J5 papers · 2025

    Department of Digestive Diseases, College of Korean Medicine, Kyung Hee University, Seoul, 02447, Republic of Korea. oridoc@khu.ac.kr.

    Papers in Europe PMC
  3. 03
    Kim SJ5 papers · 2026

    The Catholic University of Korea, Seoul, Republic of Korea.

    Papers in Europe PMC
  4. 04
    Lee SY5 papers · 2026

    Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

    Papers in Europe PMC
  5. 05
    Lee J4 papers · 2026

    Department of Anesthesiology and Pain Medicine, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.

    Papers in Europe PMC
  6. 06
    Lee S4 papers · 2025

    Department of Anesthesiology and Pain Medicine, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.

    Papers in Europe PMC
  7. 07
    Park SJ4 papers · 2025

    Chong Kun Dang Research Institute, Chong Kun Dang Pharmaceutical Corporation, Seoul, Korea.

    Papers in Europe PMC
  8. 08
    Thiagarajah JR4 papers · 2025

    Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC
  9. 09
    Wright EM4 papers · 2021

    Department of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, California ewright@mednet.ucla.edu.

    Papers in Europe PMC
  10. 10
    Berni Canani R3 papers · 2026

    Department of Translational Medical Science, University of Naples "Federico II", 80131 Naples, Italy. berni@unina.it.

    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. 2 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

2 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 42 · after dedupe 42 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 42 · 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 (42)

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 Glucose-galactose malabsorption — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 2.

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.

("Glucose-galactose malabsorption" OR "Congenital glucose-galactose malabsorption" OR "SGLT1 deficiency") OR ("SLC5A1" OR "SLC5A1 syndrome" OR "SLC5A1-related")

Run this search on Europe PMC

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

"Glucose-galactose malabsorption" OR "Congenital glucose-galactose malabsorption" OR "SGLT1 deficiency"

Study-type breakdown: 0 interventional · 2 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

Synonyms dropped by stoplist: CGGM; GGM

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3194) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T23:49:10.052Z