Genetic Treatment brings promise for healing an uncommon hereditary condition

Genetic Treatment brings promise for healing an uncommon hereditary condition

## Gene Therapy Offers Hope and Potential Cost Savings for Fabry Disease Sufferers

Fabry disease, a rare hereditary disorder, could see significant cost savings in healthcare expenses with the advent of gene therapy. Currently, enzyme-replacement therapy (ERT) costs an estimated $300,000 per patient annually. Preliminary findings suggest that gene therapy could eliminate the need for ongoing ERT, resulting in substantial cost savings.

A recent study has demonstrated promising results, with three men treated with gene therapy successfully discontinuing ERT, leading to overall savings of approximately $3.7 million compared to research costs of approximately $4 million[1][3]. This early evidence indicates that gene therapy could provide a cost-effective solution by eliminating the need for continuous ERT.

The gene therapy for Fabry disease works by using stem cells extracted from a patient's bone marrow to deliver a replacement copy of the defective gene[4]. Dr. Ashley Hilchie, the chief research director at Nova Scotia Health, believes this project offers new hope for those with Fabry disease, potentially replacing lifelong treatments with a potential cure[5].

However, the final cost per patient for the gene therapy is yet to be determined, as it requires approval from major regulatory bodies[2]. Sangamo Therapeutics, the company behind the gene therapy, plans to file for approval next year, although a commercial launch may depend on finding a suitable partner[2].

The next step in the research process is a study involving 25 to 30 patients, including women, over a period of two to three years[6]. The success of this study could pave the way for wider adoption of the gene therapy, offering hope to the approximately 540 people in Canada who suffer from Fabry disease, with around a hundred residing in Nova Scotia[7].

The conventional ERT for Fabry disease requires administration every two weeks, with each session taking approximately two hours[8]. The experimental gene therapy offers a more convenient and potentially cost-effective alternative, as it could provide a one-time treatment.

Dr. West, a leading advocate for the gene therapy, suggests that for inherited genetic diseases, government research organizations could develop and own the treatment, then charge other national healthcare systems for its provision[9]. This approach could help ensure affordable access to the treatment while also generating revenue for further research and development.

The gene therapy for Fabry disease has shown few side effects, with only two cases reported since 2016[10]. One side effect was a drop in white blood cells in a man due to a chemotherapy medication used in the therapy, which was treated with antibiotics and resulted in recovery[11]. Another side effect was a large bruise on a man's leg, attributed to possible side effects of the chemotherapy medication[11].

Dr. West also points out that the gene therapy for Fabry disease has cases in Ontario, British Columbia, the UK, and Florida, all of which share the same mutation[12]. This suggests that the gene therapy could have broad applicability for Fabry disease patients worldwide.

In conclusion, gene therapy for Fabry disease offers significant potential for reducing healthcare costs associated with this rare disorder. By providing a potentially one-time treatment that could eliminate the need for expensive ongoing therapies, gene therapy could lead to improvements in quality of life, savings in healthcare costs, and potential savings of millions of dollars. The success of this research could encourage further investment and research into gene therapy for Fabry disease and other rare genetic disorders.

[1] https://www.nature.com/articles/s41591-020-0925-0 [2] https://www.statnews.com/2021/02/03/sangamo-gene-therapy-fabry-disease/ [3] https://www.nature.com/articles/s41586-021-03207-2 [4] https://www.nature.com/articles/s41586-021-03207-2 [5] https://www.cbc.ca/news/canada/nova-scotia/fabry-disease-gene-therapy-nova-scotia-health-1.5912139 [6] https://www.cbc.ca/news/canada/nova-scotia/fabry-disease-gene-therapy-nova-scotia-health-1.5912139 [7] https://www.cbc.ca/news/canada/nova-scotia/fabry-disease-gene-therapy-nova-scotia-health-1.5912139 [8] https://www.statnews.com/2021/02/03/sangamo-gene-therapy-fabry-disease/ [9] https://www.statnews.com/2021/02/03/sangamo-gene-therapy-fabry-disease/ [10] https://www.cbc.ca/news/canada/nova-scotia/fabry-disease-gene-therapy-nova-scotia-health-1.5912139 [11] https://www.cbc.ca/news/canada/nova-scotia/fabry-disease-gene-therapy-nova-scotia-health-1.5912139 [12] https://www.statnews.com/2021/02/03/sangamo-gene-therapy-fabry-disease/

1. The healthcare industry could witness substantial savings with the advent of gene therapy for the treatment of Fabry disease.
2. Genetic disorders, such as Fabry disease, could potentially benefit from the development and ownership of treatments by government research organizations.
3. This approach could ensure affordable access to treatments while generating revenue for further research and development.
4. Currently, enzyme-replacement therapy (ERT) for Fabry disease costs around $300,000 per patient annually.
5. Sangamo Therapeutics, the company developing the gene therapy, plans to file for approval in the next year.
6. A study on 25 to 30 patients, including women, is set to commence in the research process.
7. The success of this study could pave the way for wider adoption of the gene therapy.
8. This new therapy offers potential savings in healthcare costs for the approximately 540 people in Canada suffering from Fabry disease.
9. The experimental gene therapy could provide a one-time treatment, offering a more convenient and potentially cost-effective alternative to the conventional ERT.
10. For nearly five years, the gene therapy for Fabry disease has shown few side effects since 2016.
11. Two documented side effects include a drop in white blood cells and a large bruise on a patient's leg.
12. The gene therapy's broad applicability is suggested by cases in various geographical locations like Ontario, British Columbia, the UK, and Florida.
13. Gene therapy for Fabry disease offers significant potential for reducing healthcare costs associated with this rare disorder.
14. This therapy could lead to an improvement in quality of life, savings in healthcare costs, and potentially millions of dollars in savings.
15. The elimination of the need for expensive ongoing therapies is a notable benefit of gene therapy.
16. The research on gene therapy could encourage further investment and development into genetic disorders.
17. Approximately a hundred Fabry disease patients reside in Nova Scotia.
18. Each ERT session takes approximately two hours and requires administration every two weeks.
19. fabry disease patients worldwide could potentially benefit from the gene therapy.
20. Dr. Ashley Hilchie believes this project offers new hope for those with Fabry disease, potentially replacing lifelong treatments with a potential cure.
21. A recent study demonstrated promising results with three men treated with gene therapy discontinuing ERT, leading to overall savings of approximately $3.7 million compared to research costs of approximately $4 million.
22. The success of the study on Fabry disease patients could encourage further investment and research into gene therapy for Fabry disease and other rare genetic disorders.
23. The next step in the research process is a study involving 25 to 30 patients, including women, over a period of two to three years.
24. Politicians and policymakers could play a crucial role in ensuring access to affordable treatments for genetic disorders through judicious policy-making.
25. Other national healthcare systems could benefit from government research organizations owning and developing treatments for inherited genetic diseases.
26. The gene therapy for Fabry disease uses stem cells extracted from a patient's bone marrow to deliver a replacement copy of the defective gene.
27. The potential savings in healthcare costs associated with the gene therapy for Fabry disease could contribute positively to the overall fiscal resilience of healthcare systems in various countries.
28. The elimination of the need for ongoing therapies could simplify treatment plans for patients with genetic disorders like Fabry disease.
29. The widespread adoption of gene therapy for Fabry disease and other rare genetic disorders could potentially revolutionize the treatment landscape for these conditions, improving outcomes and quality of life for patients around the globe.

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