Prompted by the current high-profile case of Lisa Stockman Mauriello’s devastating rare disease ALS diagnosis and her family’s fight to access an investigational therapy, tofersen, potentially the only option to alter the course of her disease, we comment on the issues surrounding this case and the possible ethical dilemma this presents whilst applying the long-established…Read More
When a patient gets access to a drug that changes the trajectory of their disease, it’s a beautiful thing. As a mother of a child with a rare disease, I’ve dedicated my career to connecting patients with emerging therapies. But there are so many barriers that stand in the way of patient access, especially in…Read More
I’ve been thinking recently about the lessons RareiTi needs to absorb from the pandemic and what adjustments we need to make in response to those lessons. RareiTi’s big goal remains focused around access to therapies, but the pandemic is a reminder that diseases are global and that carefully executed, country-specific outreach to patients and providers…Read More
As International Women’s Day approaches with its theme of “Choose to Challenge”, I wanted to gain inspiration from women who have challenged the status quo to leave the world a different place than they found it. I found plenty of inspiration at the PharmaVOICE Women of the Week virtual session featuring RareiTi’s own Wendy White.…Read More
Global drug launches always pose unique challenges, but are often even greater when in rare disease. The combination of higher prices, complex therapies, smaller patient populations, unique health systems and public health priorities likely mean you’ll need more data and additional supportive evidence to meet the needs of international markets. An early access program…Read More
Managed access programs aim to expand access to medications that are not available to patients through the usual channels around the globe. These programs go by various names, including compassionate use, expanded access, named-patient, and early access programs. While some countries allow costs for these programs to be covered many others do not. The number…Read More
Like many of you, I have been watching the sobering developments of the new variant of Covid 19 that seems to be taking a hold across the UK and in some parts of Europe. Never has the need to support people living with Rare Diseases, Long Term Conditions and Cancer been greater. Most people in…Read More
Managed access programs – also known as compassionate use, early access, and named-patient programs- have clear benefits for patients and physicians. These programs provide an alternative regulatory pathway to help patients access potentially life-altering drugs when they are ineligible for clinical trials or the drug has not been approved in their home country. Historically, the…Read More
Big data will never be an option for rare disease research. By definition, rare diseases affect around 620 people per million. Ultra-rare diseases may affect as few as 1 in a million. When you have a tiny population, scattered across the globe, how can you hope to find enough clinical trial participants to demonstrate efficacy…Read More
A study published in the Journal of Genetic Counseling provided evidence for something every rare disease patient and caregiver has learned in the school of experience. Alone in a Crowd? Parents of Children with Rare Diseases Experience of Navigating the Healthcare System 1 reported on the challenges rare disease parents face once their children are…Read More
The COVID-19 pandemic is having significant impact on clinical trials globally. Many trials face suspension or closure due to clinical priorities and the impact of social distancing and quarantine.
Clinical trial patients with a rare condition face great challenges; being part of a clinical trial when living with a rare condition can often be the only lifeline available, offering the chance to access novel therapies that could improve life enormously. During the pandemic, not being able to access novel therapies could have a major negative impact on health, disease progression and mortality. In addition, progress toward an approved therapy should not have to be completely stalled because of a lack of ability to collect relevant data.