There are challenges at every stage of the journey from lab to patient. First and foremost, it’s extremely challenging to develop a deep understanding of ultra-rare diseases due to small and disperse patient populations, limited understanding of the natural history of the disorder, commonly no established clinical endpoints to be able to conduct clinical trials and the fact that many patients are misdiagnosed and there is often no standard of care.
Once all of that is addressed and a treatment is discovered, it goes through years and sometimes decades of clinical trials and final regulatory review. The challenge is for the patient to be able to access the treatment. Payers and manufactures must come together in order to ensure that a treatment can reach the patient.
This is especially relevant for the new era of gene therapies that are disease modifying, offering hope for some of the most intractable and devastating diseases, many of which affect children. As these therapies are intended for one-time use and bring tremendous transformative value over a lifetime, it is imperative to consider the long-term value and benefit to quality-of-life improvements these treatments can offer, not only for the patient but also for the families.
I believe many would agree that patients with rare disorders deserve access to treatments. Regulatory pathways have been established in order to aid companies willing to take the challenge to develop treatments for patients with rare diseases. However, in order for treatments to be developed, companies need to be able to fund the discovery and development of those treatments.
Manufacturers and payers have been working together in order to ensure that patients have access to these treatments, however these arrangements have not been designed to address the new wave of disease-modifying, one-time gene therapies. They offer groundbreaking opportunities for severely debilitating or life-threatening conditions.
The focus must be on the value associated with the long-term benefit. Evaluation needs to capture what lifetime benefit means to patients and caregivers on the one hand, and value to payers and society on the other.
This is novel, unchartered territory and it’s vital that we work together to adapt reimbursement pathways and mechanisms and learn from the early experiences. A reliable and predictable pathway is vitally important for patients. Once we can provide a framework that continues to drive the science and development of innovative treatments, only then can patients access the transformative value that gene therapies offer.
At PTC, we undertake physician education and patient screening initiatives to identify patients and encourage earlier or correct diagnosis of ultra-rare diseases. For example, we are supporting access to free-of-charge genetic testing for patients with suspected AADC deficiency, an ultra-rare disease, as well as initiatives to educate physicians to incorporate AADC deficiency diagnostic tests into their work up of patients, and biobank screening initiatives that allow physicians who are undertaking patient screening to quickly screen databases.
Ultra-rare diseases significantly complicate access, but it is vital that all stakeholders work hard to ensure ultra-rare disease populations have the same rights to access treatment as those with conditions that affect more people.
The challenges are greater with novel technologies, like gene therapies, which offer particular hope to these populations.
The rarity of a condition, the limited number of specialists and the complexity of the technology mean these treatments cannot be administered in a community hospital setting. Instead, they need highly specialised and accredited treatment centers staffed by specialists, doctors, and nurses who need to have dedicated training.
Generally, there is a need for consistency and alignment around patient access – the manufacturer, the patient, and the hospital. It is important that the patient journey is clear across all these aspects.
We need to improve physician awareness and understanding of an ultra-rare disease, and work with clinical experts to improve and many times establish diagnostic pathways. We need to ensure the right patients can access therapy wherever they live. That starts with facilitating diagnosis right through the setting up of treatment centers and engaging payers.
It is vital to give a voice to those who otherwise have limited access to treatment. The nature of ultra-rare diseases is such that families living with some of the most devastating and debilitating diseases have no organised voice to advocate for better care or access to innovative therapies.
Many of these families are facing battles at every stage of their journey, on top of caring for a severely ill child, simply because of a lack of knowledge of the disease. They may face misdiagnosis or no diagnosis, failed attempts at treatment or no treatment. Typically, there are no guidelines, minimal disease knowledge and limited or no effective treatments.
Little understanding of a disease and no established patient organisations can lead to social isolation and suffering. Families often also face significant financial problems as there is an extremely strong caregiver and financial burden in neurologic and childhood diseases.
Sadly, the caregiver and family financial burden is often not recognised in some reimbursement pathways and can also lead to poor appreciation of the true impact of a disease.
Alberto Vicent is VP and general manager Southern Europe at PTC Therapeutics. Alberto, a trained pharmacist, has spent most of his career focused uniquely on rare diseases for a number of pharmaceutical companies, including Shire Pharmaceuticals, Synageva Biopharma and Kyowa Kirin. He is a past president of AELMHU (Spanish Association of Orphan & Ultra Orphan Manufacturers).
PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialisation of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC’s ability to globally commercialise products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. The Company’s strategy is to leverage its strong scientific expertise and global commercial infrastructure to maximise value for its patients and other stakeholders. To learn more about PTC, please visit us at www.ptcbio.com and follow us on Facebook, on Twitter at @PTCBio, and on LinkedIn.