Partners to Develop Novel Tools for Global Rare Disease Research

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by Mary Chapman |

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QualityMetric and Pulse Infoframe are collaborating to develop instruments across rare diseases to support global research initiatives, including those searching for treatments.

The scientifically validated instruments and surveys would prospectively benefit patients and families as well as scientists, treatment developers, and advocates. More than 300 million people worldwide are thought to have one of the 7,000 or so known rare diseases. Of those conditions, 5% have an approved treatment.

The partnership will marry QualityMetric’s clinical outcomes assessment (COA) expertise, patient-reported outcome data science, and technology with Pulse Infoframe’s data science knowledge and all-inclusive data platform.

QualityMetric is a global COA solutions provider that specializes in patient-reported outcome measures. Meanwhile, Canada-based Pulse Infoframe is a real-world evidence generation, health informatics, and insights platform.

“The ability to measure and benchmark quality of life, physical health, mental health, and disease-specific domains in a scientifically validated way gives the patient a stronger voice and provides the community with access to a dataset that does not exist today,” Femida Gwadry-Sridhar, PhD, Pulse Infoframe founder and CEO, said in a press release. “That’s why we’re excited to work with QualityMetric.”

Clinical endpoints to measure the effectiveness of therapeutic candidates for rare diseases in clinical trials are not always completely understood. An endpoint is an event or outcome that can be objectively measured to determine whether the intervention being studied is beneficial.

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Standardized or disease-specific tools are key to establishing the clinical value of such endpoints, particularly when seeking regulatory approval of a potential new treatment for diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency, which has therapies to improve symptoms but none to cure it.

“We’re very excited to combine our solutions and expertise with Pulse Infoframe’s innovative rare disease platform, Rare Central,” said Gus Gardner, CEO of QualityMetric. “We have helped numerous clients utilize clinical outcomes assessments to illuminate how diseases impact patients with rare conditions. Pulse Infoframe’s rare disease platform goes beyond data collection to offer researchers, sponsors and other professionals an end-to-end solution for evidence strategies.”

Specifically, the partnership hopes to provide better understanding of a disease and its progression; less time to disease diagnosis; development of disorder-specific surveys and tools, including “severity scales” for clinical trial staging and outcome measures; and scientific expertise to validate patient-reported outcome measures.

The collaboration also seeks to offer access to natural history studies for trials, expertise in navigating therapy regulatory requirements, and a faster trek to market due to standardized evidence availability.

The new QualityMetric instruments will be available as part of Pulse Infoframe’s Rare Central “healthie library.” The rare disease platform can be integrated with a broad array of healthcare data sources such as electronic health records, claims, genomics, and current registries.