Rare Disease Genomic Data spotlight on Mesothelioma



We spoke with Health Advocate, Alison Grimes of the Mesothelioma + Asbestos Awareness Center to understand the personal stories involved with immunotherapy clinical trials to raise awareness of Mesothelioma Awareness Day on September 26th.



Today, there are 7,000 types of conditions and rare diseases affecting the lives of patients, caregivers, families and communities. EURORDIS represents 738 patient organizations in the European Union, estimating that 30 million citizens in these countries suffer from rare disease. For some rare disease cases, there are treatments that prolong or enhance quality of life, but for many cases, clinical trials are only commencing.


What is Mesothelioma?

Mesothelioma is an aggressive cancer which develops anywhere between 10-50 years following exposure to asbestos. Once asbestos fibers are either inhaled or ingested, the fibers can lodge into the fragile lining of the lungs, heart, abdomen or testes. Due to the 3,000 new diagnoses each year, mesothelioma is considered a rare disease. However, it is important to note that mesothelioma is 99% preventable, by avoiding its only scientifically proven cause, asbestos. Once mesothelioma develops, there is no cure, however treatments are available to slow its spread and reduce symptoms.


Gene Therapy and Immunotherapy Treatments Today

Currently, mesothelioma surgery, chemotherapy and radiation treatments are in place. However, immunotherapy and gene therapy clinical trials have been proven very promising. Passive and active immunotherapy trials as well as experimental cancer vaccines are currently in trial. Avastin® has been approved by the U.S. Food and Drug Administration (FDA) for mesothelioma. Keytruda® (pembrolizumab) is used to treat melanoma in advanced stages as well as a specific type of non-small cell lung cancer (NSCLC), however Keytruda has only been approved in clinical trials or select treatments for mesothelioma.

Gene therapy is still experimental and available to cancer patients through clinical trials only. However, promising research is underway, investigating gene therapy potential of altering a particular gene’s function or structure. Current research is focused on flaws in genetics of which 4,000 currently known diseases and disorders are caused by. Gene therapy replaces faulty genes with properly functioning genes or strategic use of genes such as suicide genes, starving cancer cells, or genes that slow growth of tumors.




Importance of Immunotherapy and Gene Therapy

Immunotherapy and gene therapy are the revolutionary treatment options of today. The American Cancer Society has named gene therapy one of the most promising cancer treatments for mesothelioma and other rare diseases that primarily deal with genetic change. Gene therapy also has the potential to prevent cancerous activity in those who are at risk of developing certain kinds of cancer.

Immunotherapy is also hopeful for cancer patients and researchers. For one mesothelioma patient, Mavis Nye, immunotherapy saved her from her previous 3 month prognosis. After various tests, Mavis was accepted into a clinical trial testing Keytruda.  Mavis remembers, “Within a week, I was walking with aid.” Unlike the side effects Mavis experienced with chemotherapy treatments, Mavis did not experience sickness with Keytruda other than dry skin and constipation – very minor compared to chemotherapy.

Keytruda has also worked favorably for Robert Sieger in Australia, however his treatment was not offered through clinical trial. Robert’s daughter Sandi explains,
“My dad isn’t part of a trial. He is paying his way through an expensive treatment. In Australia, if you suffer from melanoma, Keytruda will cost you $36 a treatment. My dad pays almost 7,000 dollars a treatment for Keytruda for mesothelioma.”


How Does Data Sharing Help?

Data sharing supports rare and other disease diagnoses and treatments while enhancing prognosis. Patients with rare diseases often face long paths of diagnoses and often misdiagnosis. As a result, patients with rare disease, often go undiagnosed for years, while both symptoms and disease advance. Once accurately diagnosed, physicians may have little to no experience, evidence or guidance to help. This is where data sharing steps in. Repositive partners with global organizations to provide the latest in tools and best practices for data sharing in genomic research to help patients most effectively and early on.

To learn more about data sharing and the latest Repositive news and announcements visit our website and follow on social media.



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