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ORPHA:849

Glanzmann thrombasthenia

low confidenceDisorder

Publications

19,328

Trials

10

Interventional, condition-specific

Researchers

1,142

Distinct authors in sample

Gene link

ITGA2B, ITGB3

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.

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.

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ITGA2B, ITGB3

  2. LiteraturePresent

    19,328 matched papers (11,347 in last 10 years) Source

  3. Phenotype characterisedPresent

    52 HPO annotations (e.g. Impaired ADP-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired collagen-related peptide-induced platelet aggregation) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPresent

    2 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. Coagulation factor VIIa (recombinant) Source

  6. Interventional trialPresent

    10 matched on ClinicalTrials.gov (2 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 (ITGA2B, ITGB3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

52

Associated phenotypes · MONDO:0100326

  • Impaired ADP-induced platelet aggregation
  • Impaired thrombin-induced platelet aggregation
  • Impaired collagen-related peptide-induced platelet aggregation
  • Prolonged bleeding following circumcision
  • Menorrhagia

Showing 5 of 52 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

4

Designations · 1 with FDA orphan-indication approval

  • FDA Coagulation factor VIIa (recombinant)glanzmann's thrombasthenia · 2004-06-18 · Not FDA Approved for Orphan Indication
  • EMA sutacimigTreatment of Glanzmann thrombasthenia · 20/10/2025 · PositiveEMA designation
  • EMA ozisiranTreatment of Glanzmann thrombasthenia · 20/10/2025 · PositiveEMA designation
  • FDA coagulation factor VIIa (recombinant) (NovoSeven RT)glanzmann's thrombasthenia · 2004-06-18

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0100326

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

19,328

19,328 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

19,328 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).

11,347 in the last 10 years · low confidence

Phrase hits: 1,431 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,142

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.

  1. 01
    Fiore M11 papers · 2026

    Hematology Laboratory, Reference Center for Inherited Platelet Disorders, University Hospital of Bordeaux, Pessac, France.

    Papers in Europe PMC
  2. 02
    d'Oiron R7 papers · 2026

    Reference Center for Hemophilia and Other Rare Inherited Bleeding Disorders, Bicêtre Hospital APHP, Le Kremlin-Bicêtre, France; and.

    Papers in Europe PMC
  3. 03
    Desprez D7 papers · 2026

    Centre de Ressource et Compétence des Maladies Hémorragiques Constitutionnelles, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

    Papers in Europe PMC
  4. 04
    Schutgens REG6 papers · 2026

    Van Creveldkliniek University Medical Centre Utrecht, University Utrecht The Netherlands.

    Papers in Europe PMC
  5. 05
    Alessi MC5 papers · 2026

    Laboratory of Hematology, Aix Marseille Univ, APHM, INSERM, INRAe, C2VN, La Timone Hospital, Marseille, France.

    Papers in Europe PMC
  6. 06
    Huguenin Y5 papers · 2026

    Centre de Ressources et de Compétence des Maladies Hémorragiques Constitutionnelles, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.

    Papers in Europe PMC
  7. 07
    Li J5 papers · 2026

    Allen and Frances Adler Laboratory of Blood and Vascular Biology, The Rockefeller University, New York, NY.

    Papers in Europe PMC
  8. 08
    Rivera J5 papers · 2026

    Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, Murcia, Spain; On behalf of Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC), Spanish Society of Thrombosis and Haemostasis, Madrid, Spain. Electronic address: Jose.rivera@carm.es.

    Papers in Europe PMC
  9. 09
    Boeckelmann D4 papers · 2026

    Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Faculty of Medicine, Medical Center-University of Freiburg, 79098 Freiburg, Germany.

    Papers in Europe PMC
  10. 10
    Bury L4 papers · 2026

    Section of Internal and Cardiovascular Medicine, Department of Medicine and Surgery, University of Perugia, Perugia, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

10

interventional trials for this specific condition

10 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

10 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.5th percentile).

low confidence · 92.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

10 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

4 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

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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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 (6)

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 Glanzmann thrombasthenia — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 1.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. 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.

("Glanzmann thrombasthenia") OR ("ITGA2B" OR "ITGA2B syndrome" OR "ITGA2B-related" OR "ITGB3" OR "ITGB3 syndrome" OR "ITGB3-related")

Run this search on Europe PMC

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

"Glanzmann thrombasthenia"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 10 interventional · 4 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
  • Publication count (19328) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:38:12.507Z