Patient data, including medical records and patient experiences , are essential for scientists to develop new treatments, especially for rare diseases. The data help identify diagnostic biomarkers, predict disease progression, and help investigators design better clinical trials.
Natural-history studies record clinical parameters, including those reported by patients, over time, allowing clinicians to model disease progression in the absence of treatments. In these situations, patient registries and natural-history studies can provide real-world data that can serve as ‘external’ controls. Patient data can also help scientists identify suitable participants and meaningful clinical endpoints to properly evaluate complicated treatments. For example, patient information collected over many years helped doctors understand how spinal muscular atrophy — a rare genetic condition that damages the spinal cord — progresses, identify the best ways to measure improvement, design good clinical trials, prove treatments work, and show that treating patients early gives the best results. Recent advances in artificial intelligence (AI) models now make these goals possible in new ways — provided good patient data are available. Researchers can collect this data in two steps: first, create a community of patients with a given condition; and second, collect a range of medical and diagnostic records for those patients.
Similarly, a PDC for rare diseases in India can serve as a cooperative that holds patients’ data on their behalf to facilitate research, and which returns most, if any, of the revenue back to them. And the PDC can act on behalf of patients just as Amul does on behalf of farmers. It will access data from patient advocacy groups, the Ayushman Bharat Digital Health Mission, hospital records, the Centres of Excellence for Rare Diseases, clinicians, and other repositories. Worldwide, patient advocacy groups are already helping research communities accelerate the development of drugs for rare diseases and navigate the approval ecosystem. This movement has also reached India, and active disease-specific groups could play a critical role in setting up and operating the PDC as well. Just as Amul and the other cooperatives it inspired made India milk-secure and secured the livelihoods of millions of farmers, so too would a PDC have an outsized impact on drug discovery for most rare diseases, contributing to the good health of many patients who currently have few treatment options.
The Indian Council of Medical Research (ICMR) has already set up a rare disease registry based on data uploaded by a few experts from 19 specialised hospitals. The registry has collected data on around 4,000 patients with select diseases over the last five years.
