Factor V Deficiency Clinical Trials and Treatments

Factor V deficiency is a rare autosomal recessive bleeding disorder caused by mutations in the F5 gene encoding coagulation factor V, a cofactor essential for both intrinsic and extrinsic coagulation pathways and platelet function. The condition may present as type I deficiency (proportional reduction in factor V antigen and activity) or type II deficiency (dysfunctional protein with low specific activity) or combined variants. Factor V functions as a bridging molecule in coagulation complex formation on the platelet surface, and its deficiency results in prolonged prothrombin time (PT), activated partial thromboplastin time (aPTT), and bleeding time, reflecting its multifaceted hemostatic role.

The most common symptoms of Factor V Deficiency include Easy bruising and ecchymosis, Epistaxis and gingival bleeding, Prolonged bleeding from minor wounds, Menorrhagia in women, Hemarthrosis in severe cases, among others. Fewer than 1 in 1,000,000 people. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Factor V Deficiency from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Clinical trials are investigating factor V concentrates derived from plasma or recombinant technology and cellular therapy approaches for hemostatic replacement therapy. Fresh frozen plasma remains the primary treatment option but carries significant volume load requirements, infection transmission risks (despite screening), and potential alloimmunization.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Factor V Deficiency. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Factor V Deficiency is caused by variants in the F5 gene. Rare acquired factor V deficiency from anti-factor V antibodies (e.g. after bovine thrombin exposure) is not genetic.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child. Fewer than 1 in 1,000,000 people. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Factor V Deficiency looks at the F5 gene. Rare acquired factor V deficiency from anti-factor V antibodies (e.g. after bovine thrombin exposure) is not genetic.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Factor V Deficiency clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Factor V Deficiency clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.