Experimental Treatments for Hemophilia

AMT-060 works by restoring the production of factor IX in hemophilia patients by delivering a functional copy of the factor IX gene into the liver cells of patients diagnosed with hemophilia B. The functional copy of the gene is delivered via adeno-associated viruses. These viruses trigger only a mild immune response and are used as vectors to deliver genes to the body. A Phase 1/2 trial has been completed with positive results.

Genome editing using the experimental CRISPR/Cas9 (clustered regularly interspaced short palindromic repeats) method is a potentially faster, easier, cheaper, more accurate, and more flexible therapeutic approach than other DNA editing techniques, and may offer a promising new technology for treating genetic diseases such as hemophilia. Preclinical studies in mice have shown that this therapeutic strategy might benefit people with hemophilia.

FLT180a is an experimental gene therapy that uses an inactivated virus to transfer a piece of DNA containing the information necessary to make factor IX into the liver cells of the patient. These are the cells that normally would produce factor IX. Once the DNA is inside of the cell, it is inserted into the chromosomes of the patient and is processed normally to produce protein, in this case, factor IX. A long-term Phase 2/3 trial in hemophilia B patients is ongoing.

Roctavian uses a harmless virus, called AAV5, to carry a healthy copy of the F8 gene that is under the control of a liver-specific promoter. When Roctavian is infused into hemophilia A patients, the virus delivers the recombinant F8 gene to the nuclei of the cells of several tissues, including the liver. It is currently being evaluated in several studies, including Phase 3 trials.

SB-525 is composed of a small portion of genetic material with the code necessary for the production of factor VIII. Once inside cells, it is hoped that this genetic material will bind to the patient’s own genetic material and allow the production of factor VIII by the cell’s protein-making machinery. A Phase 3 trial is currently recruiting hemophilia A and B patients.

SPK-8011 is an experimental gene therapy being developed for the treatment of hemophilia A. It contains a modified virus that carries the human F8 gene under the control of a specific DNA sequence, which ensures its protein product, factor VIII, is only made in the liver. A Phase 1/2 trial is still enrolling hemophilia A patients.

SPK-8016 is an investigational gene therapy that uses a modified adeno-associated virus to deliver a piece of genetic code to cells in the body in to restore the production of a form of factor VIII. This treatment is designed to restore the normal blood-clotting pathway in people with hemophilia A for whom replacement therapies do not work. A Phase 1/2 trial is ongoing.

SPK-9001 is a gene therapy candidate designed to deliver a healthy copy of the gene encoding for factor IX to the patient’s liver cells where the clotting factors are made. Once delivered to the liver cells using a modified harmless adeno-associated virus, SPK-9001 helps maintain a constant and sustained level of factor IX in the blood. A Phase 3 trial is currently recruiting hemophilia B patients.

TRM-201 is a non-steroidal anti-inflammatory drug (NSAID) that is being developed to treat severe joint disease in patients with hemophilia. TRM-201 binds to and inhibits COX-2. As a result, it is intended to reduce inflammation, pain, and fever, as well as prevent the clotting of blood (anti-platelet effect), and reduce gastrointestinal bleeding, compared with other NSAIDs. A Phase 3 trial is being planned.