PROMETRIKA was one of the proud sponsors of the MassBio Rare Disease Day Forum in Boston. Several of PROMETRIKA’s team members from Clinical Operations, Biostatistics, and Project Management came away from the event with new insights and increased dedication to contributing in the rare disease space.
As several of our team members mentioned, hearing directly from patients and their families about their journeys through years of medical assessment to identify and treat their rare diseases was inspiring. It was moving to witness the patients’ and families’ resilience and dedication in navigating the many challenges of living with a rare disease.
A strong focus of current rare disease research is neurologic disease. Our growing knowledge of the human genome has allowed us to continue identifying both inherited and spontaneous genetic anomalies. One parent spoke of her son, who is living with a newly recognized (2015) mutation that leads to severe physical and cognitive challenges. There is not yet a treatment for this disease, but research can continue on the identified genetic target. Another area of unmet need is sleep-wake disorders. A patient advocate working in the pharmaceutical industry gave an insightful and informative presentation on the challenges of these disorders. One PROMETRIKA team member felt this talk helped the audience gain understanding and empathy for others facing sleep disorders.
Another major area of focus for rare disease advocacy is newborn screening for genetic abnormalities. Newborn screening tests newborns for serious genetic and metabolic disorders that may not be apparent at birth. The goal is to identify these conditions early so that appropriate treatment can start as soon as possible. Newborn screening was first instituted in the 1960’s for the metabolic disorder phenylketonuria. As testing technology for many diseases improves, the list of screening tests has grown. It is the hope of many in the rare disease space that newborn screening for many rare diseases will be feasible moving forward.
Of course, progress in the research of treatments for rare diseases cannot happen without cooperation among many public and private sectors. Medical and scientific researchers, the biopharmaceutical industry, regulatory agencies, private investors, and patients are all stakeholders who must work together for success. The Rare Disease Day event gave voice to a number of these collaborators. Members of Massachusetts’ government, representatives from biopharmaceutical companies, academic and medical researchers, healthcare experts, and patients all spoke about the challenges each sector faces. There was an emphasized need for collaboration and education amongst government policymakers, industry, academia, investors, and patient advocacy groups. The hope of patients, families, and everyone dedicated to working in rare diseases is that all of these stakeholders can unite over a common goal of bettering patient lives.
PROMETRIKA has many years of experience working in the rare disease space. Our teams of data management, biostatistical, clinical operations, medical writing, and regulatory experts are excited about, and dedicated to, continuing this valuable work.
