Patient Education & Support

Human DNA is approximately 3 billion base pairs long and it contains about 30,000 genes. We typically get two copies of each gene from our parents. They influence everything from our physical traits to physiological properties including our immune system. However, genes don’t always work to our advantage, or sometimes they are not built correctly. Every protein, enzyme, functional and signaling molecules we make in our cells are made from their templates in our DNA. A small alteration in our DNA results in the formation of a different, sometimes defective, structure. We may be born with such defects, genes can change as we age, or they can be altered or damaged by external forces like chemicals and radiation.

When a gene mutates -or changes- in a way that causes disease, gene therapy may be able to help. Gene therapy is the therapeutic delivery, removal or editing of the genetic material in a patient’s cell to treat a disease. Gene therapy has been a main research field in medicine for over 40 years. In gene therapy, the genetic material is delivered into the cell by using a vehicle called a “vector”. Typically, certain artificial viruses are used as vectors because of their ability to stealthily enter into a cell and affect its genes. The vector can either be delivered into a cell outside the body (ex-vivo) or the vectors can be directly injected into the body (in-vivo).

Patient Education

FDA Guidance Documents

Treatment Research

FDA Guidance Documents

“Once just a theory, gene therapies are now a therapeutic reality for some patients,”

FDA Commissioner Scott Gottlieb, MD, said in a July 11, 2018 statement following the release of the FDA’s much-anticipated six guidance documents on gene therapy. Reflecting the rapid advancement in the field, three of them are the first for disease-specific applications of gene therapy—for hemophilia, retinal disorders, and other rare disease. The information is intended to assist sponsors in addressing the challenges of rare disease clinical development, such as limited study population size. In addition, the draft guidance on gene therapy for treatment of hemophilia provides recommendations regarding surrogate endpoints that could be used by sponsors pursuing accelerated approval of such products.

Human Gene Therapy for Hemophilia

Human Gene Therapy for retinal disorders

Human Gene Therapy for rare diseases

The other three guidance documents, which provide sponsors with manufacturing recommendations, are updates on previous guidance documents in need of revision due to the rapid advances in the field since their original release. These documents offer guidelines to sponsors regarding the provision of sufficient chemistry, manufacturing and control (CMC) information to assure safety, identity, quality, purity and strength/potency of gene therapy products; the proper testing for replication competent retrovirus during the manufacture of retroviral vector-based gene therapy products; and the design of long-term follow-up (LTFU) observational studies for the collection of data on delayed adverse events following administration of a gene therapy product.

Chemistry, Manufacturing and Control (CMC) Information For Human Gene Therapy Investigational New Drug (IND) Applications

Long Term Follow-up After Administration of Human Gene Therapy Products

Testing of Retroviral Vector-Based Human Gene Therapy Products for Replication Competent Retrovirus During Product Manufacture and Patient Follow-up