GENV-HEM for Hemophilia Earns Orphan Drug Status

According to Hemophilia News Today, GENV-HEM, an investigational treatment for patients with hemophilia A and B either with or without clotting factor inhibitors, earned Orphan Drug designation from the FDA. Orphan Drug designation is granted to drugs or products intended to diagnose, treat, or prevent rare diseases. In this case, “rare” is defined as affecting under 200,000 Americans. Once a product receives this status, the drug developer also receives a variety of incentives, such as fee waivers, tax credits, increased regulatory assistance, and 7 years of market exclusivity upon approval. Now, GENV-HEM offers the potential to improve overall treatment for patients with hemophilia, even with inhibitors, as there are no current approved treatments for this patient population.


So what exactly is GENV-HEM? Developed by GeneVentiv Therapeutics (“GeneVentiv”), GENV-HEM is described as:

a novel, one-time infusion for hemophilia utilizing the AAV8 vector containing an optimized gene encoding for FVa. GeneVentiv has discovered that instructing liver cells to produce additional Factor Va, can restore the clotting cascade.

Preclinical studies highlighted how the treatment reduced bleeding risk and lowered the number of bleeding incidences in animal models. This therapy is designed for patients with or without inhibitors, or neutralizing antibodies. An estimated 20-30% of patients with hemophilia A, and 10% with hemophilia B, develop these inhibitors following replacement therapy, the current standard-of-care. Because of this, this therapy can become ineffective. Thus, a new therapeutic option for patients with inhibitors is urgently needed. GENV-HEM delivers the treatment directly to the liver.


Normally, our blood has clotting factors, which help form blood clots during injuries. For example, if you cut your arm, clotting factors prompt wound-closing. However, patients with hemophilia, a rare bleeding disorder, lack clotting factors. Those with hemophilia A lack clotting factor VIII, while those with hemophilia B lack clotting factor IX. Because hemophilia is inherited in an X-linked recessive pattern, those affected are most often males; females are more so carriers. Symptoms vary, depending on severity and clotting factor levels. Symptoms include:

  • Excessive and prolonged bleeding following cuts or injuries
  • Spontaneous bleeding
  • Large, deep bruising
  • Hematuria (blood in the urine) or bloody stool
  • Joint pain and swelling
  • Irritability (in infants)
  • Prolonged bleeding after vaccinations, dental work, and surgeries

If you have hemophilia and experience any of the following symptoms, please seek emergency care as soon as you can:

  • Neck pain
  • Joint pain, swelling, and warmth
  • Intense headache
  • Intense bleeding following an injury
  • Nausea and vomiting
  • Extreme fatigue
  • Double vision

Learn more about hemophilia.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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