A patient- centered, real-world approach to rare disease

PatientsLikeMe and Shire Pharmaceuticals collaborate to study rare genetic diseases

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CAMBRIDGE & LEXINGTON, Mass.—Sometimes in pharma and biotech research, actual people can seem very much ancillary to the work. All those computer models, organs on chips, animal models, in-vitro tests and the like all try to emulate important aspects of real life, but they often fall short. And this is often discovered when real people actually enter the equation in clinical trials and promising experimental compounds fail.
In an effort that might help to bridge some of this gap and give better understanding of rare diseases, PatientsLikeMe—a free website “where people can share their health data to track their progress, help others and change medicine for good,” as the organization states—and Shire plc have announced a new collaboration that will support the development of a patient-centered, real-world health learning system that expands understanding of human health and disease.
Shire, a global leader in rare diseases and other highly specialized conditions, will work with PatientsLikeMe to “appropriately engage patients and caregivers at every stage of their journey.” This will be done in part through the creation of digitally enabled research communities and tools so that this multiyear collaboration can help those struggling with a rare disease to track and share their experience with others living with the same condition.
That, of course, is already in line with the PatientsLikeMe mission, but where it joins hands with the pharma/biotech world is that it will also connect patient-generated health data with genotype and physiological data. This is aimed at enabling better research outcomes to help Shire better meet the specific needs of patients with rare diseases.
Dr. Philip Vickers, head of research and development for Shire, said working with PatientsLikeMe will help the company overcome some of the traditional challenges inherent in understanding rare diseases. “Establishing regular connections with patients and their caregivers has been challenging for researchers studying rare diseases. We typically study patients at a specific point in time in a clinical setting that may be far from home. Our collaboration with PatientsLikeMe will enable Shire to understand how disease impacts patients in their own environment and integrate data from multiple sources on a single platform. Our goal is to gather a more complete picture of the patient and caregiver experience that could potentially guide the development of new, more patient-centered treatments.”
PatientsLikeMe Co-founder and President Ben Heywood said the collaboration will give patients and caregivers new ways to understand their symptoms, treatment impacts and quality of life over time, and new insights into how to improve their outcomes. It will also help both companies advance research for a deeper and more collaborative understanding of health and disease.
“From my own family’s experience, I know that having a rare disease can be incredibly isolating. But as we’ve seen with other conditions, patients and caregivers who connect on our platform have unprecedented control and influence over their experience, and potentially their outcomes,” Heywood said. “Our work with Shire will give patients, caregivers and researchers access to new forms of data that can improve our understanding of the human condition, and help Shire align their operations behind patient-driven directives. We applaud that effort and are delighted to help drive it.”
Karl Hick, chief information officer for Shire, commented that “digital technologies are driving a major shift in healthcare, empowering patients and their caregivers to take greater control of their health outcomes, and enabling better insights into patient needs. The collaboration between Shire and PatientsLikeMe will create an empowered and enlightened community of rare disease patients and caregivers, and integrate cutting-edge technologies to build a full understanding of the disease and diagnostic journey.”
In other recent news from Shire, the company announced in late March that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation for recombinant ADAMTS13 (SHP655, historically known as BAX930) for treatment of acute episodes of hereditary thrombotic thrombocytopenic purpura (hTTP) in patients with a constitutional deficiency of the von Willebrand factor-cleaving (VWF) protease ADAMTS13. hTTP is a life-threatening congenital disease caused by a deficiency in the enzyme ADAMTS13 which can cause clotting in the microvasculature with associated organ morbidities.
“As the leader in rare disease, Shire is committed to providing an innovative pipeline of world class therapeutics to the patients that need them most,” said Vickers. “Today’s confirmation from FDA that SHP655 for hereditary thrombotic thrombocytopenic purpura has been granted Fast Track designation reaffirms the significant unmet need that exists for this patient population and provides hope of reducing morbidity in patients with hTTP.”
The FDA’s Fast Track designation is supported by preclinical data and a Phase 1 study. The Fast Track process is designed to facilitate the development and expedite the review of drugs to treat serious conditions and fill an unmet medical need. However, it does not guarantee that the FDA will ultimately approve SHP655 or the timing of any such approval.
Shire will initiate its Phase 3 trial with SHP655 as a randomized, open-label, 2-period crossover study with a single-arm continuation to evaluate the safety and efficacy of SHP655 in the treatment and prevention of acute TTP events in patients with severe hereditary ADAMTS13 deficiency. This global study will be conducted in the United States, Europe and Japan.
The Phase 1 data included results from 15 patients with severe hTTP who completed the multicenter study. Each patient received a single dose of SHP655 in one of three dosing cohorts. The activity pharmacokinetic parameters, including terminal half-life, were comparable to those estimated from fresh frozen plasma studies and demonstrated dose proportionality with respect to maximum concentration and area under the curve. No serious adverse events were reported. In the highest dosing cohort, three subjects reported three possibly related adverse events, nausea, flatulence and decreased VWF antigen and VWF activity; all of these reported adverse events resolved without medication. Immunogenicity tests performed at screening, pre-dose and upon study completion, were negative in all subjects.

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