From debilitating illness to a ‘normal’ life

From debilitating illness to a ‘normal’ life

Image by Ernesto Eslava from Pixabay

Gene therapies, which can remove or replace genes that are responsible for diseases, are poised to fundamentally change how many inherited conditions are treated. It has taken decades of research on the part of scientists and companies to get to a point where they could contemplate offering gene therapies as part of routine medical treatments for some of the most dangerous and life-threatening diseases.

Now, gene therapies offer the potential to target the underlying biology of rare genetic diseases, potentially reducing the ongoing need for treatment, thereby relieving patients of treatment burdens and reducing demands on healthcare systems.

Traditional therapies for rare genetic diseases are used throughout the patients’ lifetime, and the current reimbursement policies and payment models are not designed to accommodate gene therapies, which may only be administered once or multiple times.

Ultimately, being able to fully realize the potential of gene therapies for rare genetic diseases depends on listening to and accommodating patients’ needs. Right now, whether a condition is cancer or heart disease, research in gene therapies is mostly focused on developing new treatments for high-risk patients with severe illnesses–patients past the point where conventional treatments are effective.

Clinical trials for novel gene therapies generally include smaller numbers of patients than trials of larger disease indications, which can lead to compressed clinical development timelines. Gene therapies are being studied in patients with serious or life-threatening rare diseases because they focus on treating the root causes of the disease rather than merely treating symptoms.

Blood disorders like beta-thalassemia and sickle-cell disease, which are far more common, are among the first who are likely to benefit, since these are conditions in which gene editing can occur outside of the body, in blood that is taken out, edited, then reinserted.

In 2.0 or 3.0, a gene therapy would involve taking away one gene and replacing it with another, like a surgical intervention at the level of a gene, or adding in a new gene to create a therapeutic protein, like the drug-carrying antibodies against a targeted cause of the disease.

If you can get in there and do the gene operation, taking out the defective or abnormally regulated genes and replacing them with genes that are normally regulated, you can go to the core of what causes a disease and treat it.

Keep the transgene from doing damage somewhere else (e.g., by contributing to neoplasms or auto-immune diseases, which can happen if a transgene expresses a protein new to a patient’s body. Aside from about 1,500 diseases known to be caused by one defective gene, most of those diseases involve multiple genes, so there are many potential targets for gene therapy.

On Friday, a federal advisory panel recommended that the Food and Drug Administration approve a treatment that could rid Baron of her beta-thalassemia, a blood disorder that leaves her needing monthly blood transfusions, daily drugs to remove excess iron from her body, and exhaustion that often makes normal life challenging.

About 1,500 Americans have serious enough beta-thalassemia to require regular blood transfusions, and about 20,000 more are born each year worldwide. Most of them are in countries where malaria is common, in South Asia, the Middle East, North Africa, and Southern Europe. (A single mutation in the beta-globin gene can help protect against malaria, while mutations inherited from both parents lead to beta-thalassemia.)   “

Pfizer is committed to building upon this emerging paradigm; leading the charge in the delivery of new medicines for patients living with rare diseases, including the voices of patients in every stage of innovation, and building upon the Company’s expertise with rare diseases research to develop a portfolio of potential transformational recombinant adeno-associated virus (rAAV)-based gene therapies.

In his interview, Patricio highlighted why he believes innovations like cell therapies and gene therapies are helping advance how we will treat rare diseases in 2022 and beyond. Ultimately, Federico Mingozzi, Chief Scientific Officer, said that the future of medicine will involve the integration of complementary approaches, including small molecules, big molecules, and programmable therapies, including gene therapies, cellular therapies, and bacteria therapies, and RNA-based therapies.

Biotechnology-based therapies are helping fight some of the deadliest diseases of our time, and are promising across a range of therapeutic areas, making it hard to pick just one. In working to bring breakthrough therapies to market, GeneVentiv Therapeutics is also injecting expanded hope into hemophilia patients struggling with the daily realities of their life-threatening, hereditary condition.

The idea is that such disorders could be ameliorated, if not eliminated, by providing the proper functioning gene. The upshot in cases like this is that gene-transfer therapies are now reserved for patients who have had unsuccessful attempts at bone-marrow transplantation, or who find that approach unfeasible.

Halfway through the 20-year window for Anderson (but only slightly less than Andersons’ 50-year projection), one can count on one hand the number of clinically used, non-experimental studies, of proven-effective gene-transfer therapies.

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