By Fatemeh (Mitra) Tavakkoli, MD, PharmD Clinical Development Lead, Internal Medicine, Spark Therapeutics
April 15 marks the seventh International Pompe Day, a global awareness day sponsored by the International Pompe Association (IPA). Through this year’s theme, “Hope for the Future”, IPA is encouraging the community to reflect on the impact of this rare, progressive neuromuscular disease and to look ahead to the future of Pompe disease.
Present-day Pompe disease
A rare genetic disease that affects roughly one in 40,000 people in the U.S., Pompe disease is a dynamic condition with variable rates of progression and different ages of onset. Initial symptoms, such as muscle and respiratory weakness, may begin at any age and manifest differently from patient-to-patient. Today, enzyme replacement therapy is the standard of care for many patients with Pompe disease.
The main focus of my clinical research experience in the past two decades has been in rare disease, and more recently, in Pompe disease. As the medical lead for Spark Therapeutics’ Pompe clinical development program, I have seen first-hand the impact this disease has on the lives of patients living with this condition and their families. My “Hope for the Future” is that we continue to make meaningful strides forward with our innovative gene therapy clinical research to address the unmet medical needs of the Pompe community.
Keeping the Pompe community front-and-center
At Spark, we believe in championing patients every step of the way. We recognize that understanding the day-to-day challenges of those facing inherited diseases, such as Pompe, is just as important as understanding the disease biology. Patients, caregivers and advocates play a critical role in supporting our gene therapy research, and we continuously learn from and collaborate with the patient advocacy community to gather insights that directly impact our scientific platform. For example, we were honored to support the inaugural Community Advisory Board hosted by the IPA in the Fall 2019.
The clinical presentation of Pompe disease can be different from one individual to another. Having the unique privilege to work closely with the incredibly passionate patient community also allows us to better understand the impact of this disease. The powerful insights from IPA-hosted advisory meetings, as well as from collaborative and educational engagements with numerous country-based Pompe advocacy organizations, have propelled our thinking about community needs and defined new areas that we want to explore as we advance our clinical development program. We have been honored to be part of these vital conversations, which ultimately inform our research program and collective hopes for the future. You can learn more about how my colleagues at Spark Therapeutics are sharing our personal Hope for the Future by tuning into our social channels (on Twitter and LinkedIn) on International Pompe Day!
Potential for gene therapy in Pompe disease
Genetic diseases that are the result of a single-gene disorder, such as Pompe disease, are the ideal targets for gene-based investigational therapies. Hope, as well as a vision for a world where no life is limited by genetic disease, are what inspire our team to keep working to discover and develop investigational treatment options.
Our clinical development program aims to help answer many important scientific and medical questions, such as whether our investigational gene therapy is safe and effective. Spark Therapeutics has always placed patient safety first. Recently, as a result of COVID-19 (SARS-CoV-2) pandemic, out of an abundance of caution for the health and safety of Pompe patients and to minimize their risk of exposure to COVID-19 as a result of travelling to investigational sites, Spark Therapeutics has decided to voluntarily suspend enrollment into our Pompe clinical trials. We encourage those in the community to learn more about Spark’s efforts, gene therapy and important considerations in light of COVID-19, by speaking to their physician, visiting clinicaltrials.gov when enrollment resumes, or by emailing us at RESOLUTE@sparktx.com.
I sincerely hope for a future of continued research to combat the devastating symptoms of Pompe disease. I’m proud to join the Spark team and the members of the global Pompe community to express our Hope for the Future and continue to work together to create a world free from Pompe Disease.
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