Press releases earlier this year on biotech company, Synlogic, announced quite favorable results on both pre-clinical and clinical data on a unique application of synthetic biology for the rare disease, phenylketonuria (PKU).
In just a short span of time, proof of concept on genetically modified probiotic bacteria (designed to perform certain enzymatic functions lacking in PKU individuals) progressed from murine and primate models to dose-related increases in specific biomarkers of healthy volunteers confirming metabolic activity. And now, with an identified dose for moving forward in PKU patients, investigators will be enrolling subjects across several clinical centers to better understand the pharmacodynamics of PKU in single and multi-dose cohort studies with this potential new therapy – a first in its class.
Harnessing the potential of a symbiotic relationship between the PKU prototype SYNB1618 and patients brings a potential wealth of rewards.
In addition to optimizing PKU management with the promise of new options and fulfilling great, unmet need, there is also another ‘symbiosis’ to be found in the approach to commercializing these therapies right from the start. Rare disease drug developer, President, CEO and CMO, Dr. Aoife Brennan explains that at the heart of this process and company, which goes beyond just patient-centric care, is an advisory board made up of patients and researchers as partners. Input from the primary beneficiaries and stakeholders makes sense, especially when it comes to identifying meaningful outcomes and fulfilling the mission and vision. And, for SYNB1618 that vision will hopefully translate to normalizing blood phenylalanine and moving a patient’s “phe” level into the target range according to best treatment practices and guidelines.
Although the patient variability in dietary tolerance of phenylalanine (with patients falling on a PKU spectrum from mild to severe enzyme deficiency) is a challenge, time will reveal the deliverables on possibly eating a normal diet. And, as a patient, the end to dietary manipulation is something I would love to hear and experience in my lifetime.
But, what is even more impressive to hear and learn is the dedication and commitment behind reaching this shared goal. This was modeled in both action and hard work by Dr. Brennan, who eloquently expressed, “I love my job.” And, we love and value the work you do. The PKU community and greater rare disease community thanks you.
Jennifer Payne, (diagnosis PKU, 1973), pharmacist, and mother to 3 nonPKU children (living truth to the power of the phe-restricted diet!) is a health advocate on a personal and professional level. She grew up as part of Maryland’s participation in a multi-state collaborative study on the efficacy of the PKU diet. And, as an early generation treated PKU adult, she continues to challenge the federal government on health policy and the necessity of medical foods in PKU clinical management and for other FDA approved PKU pharmaceuticals and emerging therapies. Jennifer is passionate about justice for PKU, research and rare disease, and continues to fight for access to equitable and affordable treatment for all in her work and advocacy efforts.
