ORPHA:98880
Familial afibrinogenemia
Is anyone studying this?
67
67 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=183) is 38.
67 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
29 in the last 10 years · high confidence · 44th percentile (publications denominator)
Is a treatment being tested?
8
trials for this specific condition
8 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 26 July 2026
8 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 84.7th percentile).
high confidence · 84.7th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (FGA, FGB, FGG).
GenCC classification: Definitive.
Who's working on it?
219
Distinct author names in 67 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.
- 01Weisel JW3 papers · 2016
Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Papers in Europe PMC - 02Abdel-Hamid IA2 papers · 2018
Division of Andrology, Mansoura Faculty of Medicine, Mansoura, Egypt ;
Papers in Europe PMC - 03Casini A2 papers · 2025
Division of Angiology and Hemostasis, University Hospitals and University of Geneva Faculty of Medicine.
Papers in Europe PMC - 04de Moerloose P2 papers · 2010Papers in Europe PMC
- 05Fish RJ2 papers · 2020
Department of Genetic Medicine and Development, University of Geneva Faculty of Medicine.
Papers in Europe PMC - 06Mitragotri S2 papers · 2024
John A. Paulson School of Engineering and Applied Sciences Harvard University Allston Massachusetts USA.
Papers in Europe PMC - 07Neerman-Arbez M2 papers · 2020
Department of Genetic Medicine and Development, University of Geneva Faculty of Medicine marguerite.neerman-arbez@unige.ch.
Papers in Europe PMC - 08Zhao Z2 papers · 2024
Department of Pharmaceutical Sciences, College of Pharmacy University of Illinois at Chicago Chicago Illinois USA.
Papers in Europe PMC - 09Abdel-Wahab N1 paper · 2016
Section of Rheumatology and Clinical Immunology, Department of General Internal Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Papers in Europe PMC - 10Abraham SV1 paper · 2021
Department of Emergency Medicine, Jubilee Mission Medical College and Research Institute, Thrissur, Kerala India.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
8 interventional trials matched after quoted-phrase search and title/condition post-filter.
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.
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 below but are not added to the query string.
"Familial afibrinogenemia"
MeSH descriptor terms unioned into the query: Afibrinogenemia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial afibrinogenemia" OR "Afibrinogenemia" OR "FGA" OR "FGB" OR "FGG"
Interventional trials matched via: 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: 8 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:D000347 OMIM:202400 UMLS:C2584774 NCIT:C98130
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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