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Rare Disease Gene Therapy Press Kit
Gene Therapy: Imagine the Possibilities
Pfizer Rare Disease is exploring the potential of gene therapy to treat rare genetic diseases. Through our research, it has become clear that genetics may not have to determine the future of a person living with rare disease. Imagine what we can learn if we unlock the true potential of using genes as medicine to help treat more than 6,000 known rare genetic diseases worldwide.
Gene therapy is a potentially transformative treatment approach that, if successful, may help reduce the burden of ongoing treatments for nearly 320 million people worldwide who are affected by rare genetic diseases.
Learn more about our innovative approach to addressing rare genetic diseases.
GENE THERAPY: QUICK FACTS
Gene Therapy: Frequently Asked Questions
Please click here to download full FAQ as a PDF.
How is Pfizer Rare Disease advancing research in gene therapy?
Pfizer Rare Disease is advancing research on gene therapy as one of the next developments in delivering potentially transformational medicines to people living with genetic diseases. With our commitment to rare disease patients, we look to gene therapy as an opportunity to improve the lives of people who have complex diseases with significant unmet needs.i
What is Pfizer’s focus in gene therapy?
Currently, Pfizer Rare Disease is focused on gene therapy treatments in diseases that have single gene defects, such as certain neuromuscular and hematologic diseases.i
Our approach is highly specialized, potentially one-time gene therapy treatments that use custom-made vectors modeled after the Adeno-Associated Virus (AAV) to potentially deliver treatment effectively to patients.ii It is a technology that can be standardized, streamlining the manufacturing and regulatory path to medicine approval.i,ii,iii
What is a genetic disease?
A genetic disease is the result of changes, or alterations, in a person's DNA, some of which can be debilitating and life-threatening. This can occur either when a person inherits a nonfunctioning gene, or in rare cases, with a spontaneous alteration.iv Genes play an essential role in determining the function of each cell in the body, making up 30 million codes of DNA. If even one of these codes is damaged, a genetic alteration may occur causing a genetic disease.v
What is gene therapy?
While gene therapy holds promise for people with genetic diseases, it will not be an appropriate solution for every patient. Clinical trials are currently underway to explore the many unknowns, including how long the therapy will last.iv That said, evidence to date indicates gene therapy has the potential to restore normal function in affected tissues or cells over the long-term that may enable a patient to manage his or her disease without the need for ongoing treatments.i,ii
What does gene therapy do to an individual’s DNA?
Pfizer’s current approach to gene therapy does not alter a person's DNA to be effective, also known as nonintegrating gene therapy.i This means that our approach has a very low likelihood of affecting an individual cell’s genetic material.vi Because of this, the existing genetic alteration can still be inherited from parent to child. Our approach is also classified as in vivo. With in vivo gene therapy, the genes are introduced directly into a person's body.iv,vi
What are the potential benefits of gene therapy?
Certain portions of the population may develop an immune response to the vector. Some people may have been exposed to AAV and therefore have developed antibodies against the vector and would not be a candidate for treatment at this time. Additionally, immediately post gene therapy treatment patients may develop an immune response where the body may neutralize the therapeutic gene’s function. If caught early, clinical experience shows these responses may be able to be treated with steroid pills potentially leading to a stabilization of the gene’s functioning.iii,vii
What are antibodies?
Antibodies work with the immune system to identify and neutralize foreign objects, such as bacteria, viruses, or certain proteins.viii While the AAV vector contains no viral DNA, the capsule or shell remains and may provoke an immune response, such as the development of antibodies.iii
How do you know if you are eligible for gene therapy?
Factors that may make someone ineligible to receive gene therapy treatment include patients with pre-existing antibodies that would neutralize the specific gene therapy treatment, patients who have previously received gene therapy and developed these antibodies, and for certain disease trials, patients who are not yet adults. Eligibility will be explored with a blood test to check for antibodies to the custom vector, and patients can discuss the results with their physicians and determine how to proceed on an individual basis.vii, viii
What are other approaches to genetic medicine currently being explored?
Gene editing is another potential treatment for genetic diseases currently being explored, in which the patient’s chromosomal DNA is directly altered to correct a genetic error.ix
How has gene therapy evolved since the 1990s?
Pfizer Rare Disease will manufacture gene therapy treatments using production processes that are very similar to other biotechnology products such as monoclonal antibodies and vaccines. The process uses recombinant cell culture technology and purification followed by sterile vial filling. The similarity to traditional biotech processes means higher confidence on the scale up, reproducibility, and the design of manufacturing facilities.i
When will gene therapy be available?
Pfizer Rare Disease is actively researching gene therapy and various clinical trials are underway. It is still too early to provide a time frame as to when gene therapy will be approved for use, but we are hopeful for the future.i
Where is Pfizer Rare Disease in the process in regards to gene therapy?
Patients can learn more about our clinical trials through our company’s “Find a Trial” page on our Website or through clinicaltrials.gov.i,iv
ii. Roberts SA, Dong B, Firrman JA, Moore AR, Sang N, Xiao W. Engineering Factor VIII for hemophilia gene therapy. J Genet Syndr Gene Ther. 2011;1:S1-006. doi: 10.4172/2157-7412.S1-006
iii. Thomas CE, Ehrhardt A, Kay MA. Progress and problems with the use of viral vectors for gene therapy. Nat Rev Genet. 2003;4(5):346-358. iv. Genetics Home Reference (GHR). Help me understand genetics: gene therapy. https://ghr.nlm.nih.gov/ primer/therapy.pdf. March 28, 2017. Accessed May 30, 2017.
v. Smith, D. How Many Possible Combinations Of DNA Are There? Forbes. https://www.forbes.com/sites/quora/2017/01/20/how-many-possible-combinations-of-dna-are-there/#3510367c5835. January 20, 2017. Accessed July 19, 2017.
vi. National Institutes of Health (NIH). How does gene therapy work? https://ghr.nlm.nih.gov/primer/therapy/procedures. March 28, 2017. Accessed May 30, 2017.
vii. Mingozzi F, High KA. Immune responses to AAV vectors: overcoming barriers to successful gene therapy. Blood. 2013;122(1):23-36.
viii. Patient Info. Antibody and Antigen Tests. https://patient.info/health/antibody-and-antigen-tests. Accessed May 30, 2017.
ix. Your Genome. What is Genome Editing. http://www.yourgenome.org/facts/what-is-genome-editing. Published November 11, 2016. Accessed May 30, 2017.