In 2019, PTC initiated a diagnostic program in Russia with the objective of improving and accelerating access to genetic testing for patients with Duchenne Muscular Dystrophy (DMD). Due to the geographic and population largeness of Russia, differences in health care standards and funding across the vastness of the country limit access to vital diagnostic testing, leading to delays in diagnosis. The program supports two under-served communities: patients with DMD and their health care professionals (HCPs).

PTC’s diagnostic program was designed to address key challenges in the current system by:

  • Improving Infrastructure
    Through partnership with a local third-party vendor and a federal genetic laboratory in Moscow, PTC has been able to facilitate a service to HCPs which entails managing the logistics and safe delivery of testing samples to a local test site.
  • Reducing Delays in Diagnosis
    This service supports quick and reliable turnaround for sample examination. It helps HCPs expedite the time to establish diagnosis by reducing its logistical burden; and enables them to provide a timely response to patients and caregivers.
  • Reducing Financial Burden
    This program offers no-charge testing for patients and HCPs.
  • Expanding Geographical Reach
    Courier services for sample drop-off cover all of Russia’s geographic regions, including some of the country’s most remote areas.
  • Reducing the Emotional Burden on Families
    By addressing key challenges in the current system we are able to ease the burden, uncertainty and emotional pressures that parents and caregivers face in securing a confirmed diagnosis.

Since its conception, this diagnosis program has been popular, with many HCPs taking the opportunity to utilise the testing facilities available. PTC has seen a 40% increase in testing requests. Additionally, 40 new regions started Duchenne testing through this program, including other countries such as Belarus. As the diagnostics program continues to provide value, our team in Russia works to expand the program into other countries. We are working closely with the health care community to further improve diagnostic standards and patient outcomes.

This effort was a finalist for a Reuters Events Pharma Awards USA Global Health Pioneer award in 2020, along with Rare Resolve for Rare Disease, which was a finalist in the category “Most Valuable Education Initiative.”