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A updated list of new treatments for hemophilia

A updated list of new treatments for hemophilia. What is hemophilia? The coagulation process of normal people involves 13 kinds of coagulation factors, which will produce a series of complex reactions when bleeding, and finally realize the coagulation function.

However, hemophilia patients lack some coagulation factors in the blood due to the X chromosome linkage defect, which leads to severe coagulation disorders. The blood cannot coagulate normally, and uncontrolled spontaneous bleeding is prone to occur.

They have a vivid name-“Glass Man”, which “breaks” at the touch of a touch! “Small abrasions” may cause life-threatening bleeding. In severe cases, muscles and joints will bleed spontaneously and cause permanent damage to the joints.

Hemophilia is an X-chromosome-linked recessive genetic disease. About two-thirds of patients have a clear family history. Female patients are rare.

Value Once the child is found to have bleeding symptoms, he should be alert to hemophilia and go to the hospital for examination and diagnosis as soon as possible. In particular, parents of boys who are known to have hemophilia genes should pay more attention.

▌Common hemophilia is mainly divided into two categories:

Hemophilia A: The lack of coagulation factor Ⅷ in the blood accounts for 80%-85% of all hemophilia; 70% have a positive family history (that is, caused by heredity), and 30% are caused by genetic mutations.

Hemophilia B: The lack of coagulation factor IX in the blood accounts for 15% to 20% of all hemophilia; there is little obvious family history, which is mainly caused by spontaneous gene mutations.

Take the common hemophilia A as an example. For a long time, for hemophilia A, blood coagulation factor replacement therapy has been mainly used, and preventive intravenous injection of factor VIII is required 2 to 3 times a week. This treatment plan can prevent spontaneous bleeding, minimize the occurrence of sequelae such as joint deformities in patients, and improve the quality of life of patients.

The good news is that human coagulation factor VIII is included in the 2020 medical insurance category A drug, and recombinant human coagulation factors VIII and IX are included in the medical insurance category B drugs (for patients with hemophilia A and B respectively) , The treatment of hemophilia patients has also been more adequately guaranteed.

However, even after receiving preventive treatment, patients with hemophilia may still experience bleeding events, and the quality of life is still very low, and there is an urgent need for a longer-term effective treatment. In addition, after the use of replacement therapy, about 10% to 30% of patients will develop antibody-factor VIII (FVIII) inhibitors, which may reduce the effect of coagulation factors, and may cause inactivation of coagulation factors and induce more serious Bleeding incident.

▌New treatments for hemophilia have been approved for marketing one after another

Last year, the US FDA approved the marketing of Sevenfact, a new treatment for hemophilia, for the treatment and control of bleeding in adults and adolescents with hemophilia A or B.

The active ingredient of Sevenfact is an innovative recombinant analogue of human coagulation factor VII, which is expressed in the mammary glands of genetically engineered rabbits and secreted into rabbit milk. During the purification and processing of milk, factor VII is converted into activated factor VIIa.

In recent years, the FDA has approved a number of new treatments for hemophilia:

Esperoct (turoctocog alfa pegol, N8-GP) is used for the treatment of hemophilia A in children and adults. Esperoct is a long-acting recombinant coagulation factor VIII (FVIII) modified with polyethylene glycol (PEG). It is used as an alternative therapy for hemophilia patients. It is approved for routine prevention to reduce the frequency of bleeding, and on-demand treatment with Control bleeding events and management of perioperative bleeding.

Jivi (BAY94-9027) is used for routine preventive treatment of hemophilia A patients 12 years old or older who have received pre-treatment. This is also a polyethylene glycol-modified recombinant factor VIII replacement therapy, which can replace the missing factor VIII in patients with hemophilia A, allowing the patient to maintain the normal coagulation factor while reducing the number of injections. Level.

Emicizumab-kxwh (Hemlibra) is used to routinely prevent, prevent or reduce bleeding events in adults and children with hemophilia A with factor VIII inhibitors. It can gather together the proteins factor IXa and factor X needed to activate the natural coagulation cascade, and restore the coagulation process of patients with hemophilia A.

▌A new hope for hemophilia treatment: gene therapy

In recent years, gene therapy has changed the treatment prospects of many genetic diseases. Scientists have also been trying to treat hemophilia through gene therapy.

Last year, the FDA accepted the first hemophilia gene therapy Valoctocogene roxaparvovec (Valrox, BMN270) for the treatment of adult patients with severe hemophilia A biological product license application (BLA). Previously, Valrox has been granted Breakthrough Drug Designation (BTD) and Orphan Drug Designation (ODD) by the FDA, and Priority Drug Designation (PRIME) and Orphan Drug Designation (ODD) by EMA.

Currently, Valrox’s application for the treatment of adult patients with severe hemophilia A is undergoing accelerated evaluation by the European Medicines Agency (EMA). If successfully approved, valrox will become the world’s first gene therapy to treat hemophilia.

Valrox is an innovative gene therapy that uses AAV5 viral vectors to deliver transgenes expressing factor VIII. The advantage is that patients with hemophilia A may only need to receive one treatment, and liver cells can continue to express factor VIII, eliminating the need for long-term prophylactic coagulation factor infusion. Long-term follow-up data show that within 4 years after receiving the gene therapy, the patient does not need to receive other preventive treatments.

I look forward to more and more new therapies coming out, bringing more convenient and effective treatment options for hemophilia patients, reducing the burden of treatment and improving the quality of life!

Life and exercise tips for hemophilia:

1. Seek doctors regularly and inform the doctor that you have hemophilia and the specific type.

2. Do not use drugs such as aspirin, non-steroidal anti-inflammatory drugs, and all drugs that may affect platelet function without the permission of your doctor.

3. Avoid contact sports, especially intense sports; use protective gear during exercise; consult a doctor before exercise if preventive treatment is needed.

4. Try to avoid any operation or surgery that may cause bleeding under the premise of no coagulation factor infusion;

5. Bring therapeutic drugs when you go out;

6. Parents should inform the caregiver, day nursery or school in time, and explain the symptoms that need to be paid attention to and how to deal with bleeding.

7. Take care of your oral cavity and visit the dentistry regularly (clean your teeth at least twice a day, use dental floss and a medium-quality bristle toothbrush).

8. Children with hemophilia should be vaccinated, even if they are injected intramuscularly. Apply an ice pack to the inoculation area for 5 minutes before inoculation, and inject coagulation factors to prevent or treat bleeding.

(source:internet, reference only)

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