Hemophilia

Harsha Rajasimha, MD, founder and executive chairman of IndoUSrare, spoke to MHE about the current disparities in diversity and ethnicity in rare disease clinical trials in the U.S., as well as what he's seeing in clinical trials for diseases like hemophilia, in specific.

Expensive gene therapy has grabbed the headlines, but three promising drugs that work in the coagulation pathway are in late-stage development.

A hemophilia expert makes some comparisons between the two approved gene therapies for hemophilia.

Data from clinical trials suggest that the vast majority of the patients respond to the gene therapy for hemophilia A, says Courtney Thornburg, M.D., M.S. But there is also decreasing factor expression.

Roctavian for hemophilia A and Hemgenix for hemophilia B could spare some patients from treatment that involves intravenous infusions of clotting factors several times a week. But a hemophilia expert cautions that the high-priced gene therapies aren’t a cure and that the reprieve won’t last a lifetime.

The National Bleeding Disorders Foundation (NBDF) has joined a petition demanding that Payer Matrix stop representing itself as a patient advocacy organization.

Specialty pharmacies can help patients with hemophilia A maintain hemostasis and ensure patient safety through medication therapy management, utilizing regional care coordinators and direct pharmacist outreach, and by maintaining consistent provider communication.

Despite positive safety and quality of life results for FEIBA, the emergency of Hemlibra created difficulties for the FEIBA study and resulted in it being halted.

Recognizing the significance of patient comfort, familiarity with treatment, and established support networks is crucial for adherence if treatment switches are needed.

Ensuring that patients with hemophilia A have the necessary injection supplies, appropriately-sized syringes, and access to tracking tools can help to foster treatment adherence.

Joe Pugliese, president and CEO of the patient advocacy group Hemophilia Alliance, discusses recent announcements by manufacturers of two ultra-expensive gene therapies for hemophilia that they will offer payers partial or full reimbursement if patients fail on their therapies.

Counseling for patients with hemophilia A should include medication storage requirements, the importance of maintaining sterile injections, and administration considerations, such as how to use blunt fill needles.

Diverse factors can influence treatment decisions for patients with hemophilia A, such as the evolving landscape of insurance coverage, challenges related to vein access and medication storage, and mode of administration.

BioMarin Pharmaceutical and CSL Behring are offering valu\ed-based contracts for their hemophilia gene therapies.

The British cost-effectiveness agency said the evidence from a pivotal clinical trial wasn't strong enough to clarify Hemgenix's effectiveness relative to other therapies or satisfy concerns about its long-term durability.

University of Pittsburgh’s Margaret Ragni, M.D., M.P.H., discussed fitusiran, the investigational small interfering RNA (siRNA) therapeutic, with Managed Healthcare Executive and also some of the possible limitations of gene therapy for hemophilia.

A yearlong study of the newly approved half-life extender showed no evidence of factor VIII inhibitors.

Promising results were reported in The Lancet and The Lancet Haematology.

The price tag of $2.9 million is typical of a new wave of gene therapies. The manufacturer, BioMarin Pharmaceutical, is offering arrangements that will link the price paid by payers to how well patients respond to the treatment.

Hemophilia A is seen as a male-only disease, but this study shows the extent to which female carriers also suffer from bleeding and joint problems related to reduced levels of clotting factors VIII.

The researchers concluded that delayed prophylaxis start with intermediate dose intensity of factor VIII prevents bleeds, but at a cost of more joint damaged and reduced health-related quality of life.

FDA has announced evidence-based changes that will allow more individuals to donate blood without increasing the risk of HIV infection.

How long the gene therapies for hemophilia will keep factor levels high is unclear, said the authors of a review in the Annual Review of Medicine. Patients also need to be counseled that they can receive only one adeno-associated viral (AAV) vector in their lifetime.

Nonexclusive licensing of discoveries made at academic institutions would work to lower prices, say the writers of a recent opinion piece published in the New England Journal of Medicine. CMS price negotiation under the Inflation Reduction Act will not have any immediate effect on gene therapy prices and may never have.

CSL Behring's Hemgenix may have some competition. At least three gene therapies for hemophilia B are in development.

STAQ Pharma has stepped in to supply desmopressin nasal spray for people with hemophilia A or Type 1 von Willebrand disease. The company is also producing albuterol for children’s hospitals.

STAQ, a 503B outsourcing facility, started making desmopressin nasal spray after Ferring Pharmaceuticals suspended production nearly three years ago.

Hemgenix for hemophilia B is priced to cost $3.5 million per treatment. Roctavian for hemophilia A may be approved by the FDA in July and is likely to be priced to cost between $2 million and $3 million per treatment.