The core measures set aims to accelerate the development of life-saving therapies, improve prioritization in drug pipelines, and reduce development costs

Boston, MA — The Digital Medicine Society (DiMe) is proud to announce the launch of the first core set of digital clinical measures for pediatric rare diseases, a toolkit designed to address the crisis where 95% of rare diseases lack approved treatments and as many as 30% of affected children die before their fifth birthday.

The math for pediatric rare disease trials does not work. Trials are long and costly, and are often hard to justify commercial investment under current models. Even when breakthroughs happen, they often fail to reach children because the clinical trial paradigm cannot support the economics of rare disease development. Meanwhile, advances in genomics mean more children than ever are being diagnosed with devastating conditions, only to be told there is nothing medicine can do.

DiMe’s new core digital measures for pediatric rare disease closes this gap by providing validated, evidence-based tools that can be deployed across multiple rare diseases to reduce trial costs, shorten timelines, improve data quality, enable decentralized trials, and generate the regulatory and payor evidence needed to bring new therapies to market.

“Children with rare diseases are dying or living a poor quality of life, while we continue to rely on trial designs that are scientifically insufficient, often slow and unsustainable,” said Lucy Cesnakova, Program Lead at DiMe. “We now have the tools and the digital measurement capabilities to capture meaningful health data outside of the clinic. What we have lacked is a coordinated approach to translate those capabilities into a viable framework for disease research and drug development. DiMe’s core measures close that gap and make pediatric rare diseases a market that actually works for the children and families who need it most.”

Developed in collaboration with pharmaceutical and medical device manufacturers, patient advocacy organizations, registry sponsors, clinical laboratories, health systems, and patient families, the final results and open-access resources include: 

• A Conceptual model defining meaningful aspects of health, and for identifying high-frequency themes meaningful to patients 
• A defined core set of digital clinical measures, which can be customized to the respective needs of a population or an individual 
• A patient & caregiver perspective dataset with over 1,300 quotes
• A catalogue of measurement ontologies
• An implementation toolkit designed to shape operational best practices for deploying digital measures across research and care. 

The core set of recommended digital clinical measures was designed to capture meaningful aspects of health identified by patients, care partners, and clinicians, and is supported by technical definitions, measurement ontologies, common data elements for rare disease registries, and implementation best practices that enable immediate deployment in clinical trials and care settings.

Building on DiMe’s Digital Health Measurement Collaborative Community (DATAcc) proven track record of developing core digital measures for sleep, physical activity, nocturnal scratch, cytokine release syndrome and Alzheimer’s disease, this launch represents the first comprehensive measurement framework purpose-built for the unique challenges of pediatric rare disease research.

The work addresses a timely opportunity as regulatory agencies advance supportive frameworks for rare disease innovation, including the FDA’s Rare Disease Innovation Hub and the NIH’s Collaborative Data Networks. Recent FDA guidance on digital health technologies and the qualification of the first digital endpoint in 2024 provide additional momentum for adoption of these tools.

The global market for rare disease therapies is expected to exceed $398 billion by 2031, driven by precision medicine breakthroughs and supportive policy environments. Digital endpoints have been shown to accelerate research and drug development timelines and reduce risk. These standardized core measures democratize access to these capabilities and enable their use at scale across the rare disease community.

Explore the complete core measures set, including technical definitions, ontologies, common data elements, implementation toolkit, and case studies.

About the Digital Medicine Society (DiMe)
The Digital Medicine Society (DiMe) is a global nonprofit organization dedicated to advancing the safe, effective, equitable, and ethical use of digital technologies to redefine healthcare and improve lives. DiMe delivers open-access resources, multi-stakeholder collaborations, and evidence-based frameworks to accelerate the responsible digitization of healthcare. Learn more at www.dimesociety.org.

About DATAcc by DiMe
The Digital Health Measurement Collaborative Community (DATAcc) by the Digital Medicine Society (DiMe) is a collaborative community with the FDA’s Center for Devices and Radiological Health. DATAcc provides a forum for collaboration where partners and experts from across the digital health field work to advance the use of digital health measures in research and care to improve lives.

Media contact:
Press@dimesociety.org