Digital clinical measures launched to support rare pediatric disease trials
DATAcc introduces open-access tools to standardize digital health data collection
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The Digital Health Measurement Collaborative Community (DATAcc) has launched a core set of digital clinical measures designed to help support the development of new therapies for pediatric rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency.
DATAcc is part of the Digital Medicine Society (DiMe), a collaborative group working to advance the use of digital health measures in research. These tools are intended to improve how health data are collected and used in studies, with the goal of supporting the development of better treatments for children with rare diseases.
“We now have the tools and the digital measurement capabilities to capture meaningful health data – what we have lacked is a coordinated approach to translate those capabilities into a viable framework for disease research and drug development,” Lucy Cesnakova, program lead at DiMe, said in a press release. “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.”
New tools aim to improve research for rare pediatric diseases
Rare diseases, including AADC deficiency, are often diagnosed years after symptoms first appear. Across rare diseases, diagnosis can take about 4.8 years. Additionally, about 95% of rare diseases do not have approved treatments. These challenges mean many affected children have few treatment options, and some rare diseases can be life-threatening early in life.
Advances in genetic testing have helped improve the speed and accuracy of diagnosing rare diseases. However, because each condition affects relatively few children, traditional clinical trials can be difficult to design and may place significant demands on patients and families.
“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,” Cesnakova said.
DATAcc worked with industry, advocacy groups, researchers, regulators, and families to define a core set of digital clinical measures intended to standardize how meaningful health data are collected in pediatric rare disease research.
By standardizing digital measurement tools across conditions, we can finally build the evidence base these children deserve while making trials faster, more accessible, and economically viable.
These digital tools are designed to standardize clinical measurements and improve consistency across studies. According to DATAcc, this approach may help reduce trial burden on families and support more efficient evaluation of potential treatments.
The open-access resources include a conceptual model outlining key aspects of health affected by rare diseases, such as movement, cognition, communication, social participation, daily functioning, sleep, and medical management. The model is intended to help identify features that are meaningful to patients and families.
The initiative also provides a tool with a core set of digital clinical measures that researchers can customize for specific diseases, populations, or individual study needs.
Patient and caregiver input helps shape core digital measures
For patients and caregivers, the tool includes a dataset incorporating patient and caregiver perspectives, organized into key domains such as activity and motor function, sleep and medical events, seizures, and thinking and communication. These insights helped inform the conceptual model. The dataset draws on 123 literature sources and more than 1,300 patient and caregiver quotes spanning 73 rare conditions and 25 therapeutic areas.
DATAcc also provides practical guidance for integrating digital measures into research and care workflows, along with case examples illustrating how these approaches can be implemented across different stages of disease and care.
“This core measures set represents a fundamental shift in how we approach pediatric rare disease research,” said Nasha Fitter, co-founder and chief business officer at Citizen Health, an advocacy organization for rare diseases. “By standardizing digital measurement tools across conditions, we can finally build the evidence base these children deserve while making trials faster, more accessible, and economically viable.”
