Recombinant proteins Flashcards
(43 cards)
What is Advate?
A treatment for Factor 8 deficiency that contains full-length factor 8 including the B domain, cleaved for activation by thrombin, with a half-life of 13-18 hours.
It is considered a short-acting treatment.
What is Adynovate?
A treatment for Factor 8 deficiency that contains full-length factor 8 including the B domain, cleaved for activation by thrombin, with a half-life of 20-30 hours.
It is considered a long-acting treatment.
What is Emicizumab?
A treatment for patients with Factor 8 inhibitors, branded as Hemlibra.
It mimics the action of Factor 8.
What did the FDA approve in June 2023?
The clinical use of gene therapy for Hemophilia A.
This marks a significant development in the treatment of this genetic disorder.
What is the list price of the newly approved gene therapy for Hemophilia A?
$2.9 million USD.
This is compared to a lifetime estimate of $4.5 million USD for traditional Factor 8 therapy.
What is the genetic basis of Hemophilia A?
A deficiency in factor 8 (FVIII) that is usually genetic but can be acquired in rare cases.
It is classified as severe, moderate, or mild based on activity levels.
What is the inheritance pattern of Hemophilia A?
X-linked recessive.
It primarily affects males, with females being carriers.
What are the classifications of Hemophilia A based on factor activity?
- Severe (<1% normal activity)
- Moderate (1-5%)
- Mild (5-30%)
What is the FVIII gene location?
Located on the X chromosome near the telomere (Xq28).
It is large, approximately 186 kb, with 26 exons.
What are the common mutation types in Hemophilia A?
- 90% point mutations or small deletions
- 10% splice site mutations or rare mutations in the promoter.
What is the significance of the inversion in severe Hemophilia A cases?
About 40% of severe cases are due to a specific inversion.
This inversion complicates molecular analysis.
What are the main treatments for Hemophilia A?
- Plasma (historical)
- Factor VIII concentrates from plasma
- Recombinant Factor 8.
What is the advantage of recombinant Factor 8?
It is produced in mammalian cells and is infection resistant.
It has been the standard treatment since 1992.
What are the current approved products for Factor 8 deficiency in NZ?
- Advate (short-acting)
- Adynovate (long-acting)
What are the common complications of Factor 8 treatment?
Development of antibodies against the foreign protein, affecting 5-7% of all patients.
This can complicate treatment and increase costs.
What is the function of Factor 8?
It acts as a cofactor that aids factor 9 in activating factor 10.
What are the methods of gene therapy?
- Germ-line gene therapy
- Somatic cell gene therapy
- Protein replacement therapy.
What is the goal of gene therapy?
To treat diseases by replacing mutated genes or inhibiting harmful proteins.
What are the delivery methods for gene therapy?
- Non-viral (DNA or RNA)
- Viral vectors.
What is the importance of gene therapy in treating genetic diseases?
It offers potential for long-term solutions by addressing the underlying genetic causes.
What is the prognosis for patients with genetic disorders?
Dependent on mutation, family history, and potential interactions with other genes or environment.
What is the purpose of newborn screening?
To identify common disorders that must have available treatments.
What are some examples of disorders screened in newborns?
- Phenylketonuria (PKU)
- Cystic fibrosis
- Severe combined immunodeficiency (SCID).
What is the significance of pedigree analysis in genetic disorders?
It helps determine the likelihood of a genetic condition being inherited.
