Design, Development, and Implementation of India’s National Registry for Rare and Other Inherited Disorders
Abstract
Background : Rare diseases are a diverse set of disorders that individually affect a relatively small number of individuals but collectively form an important public health problem globally and in India. These diseases are often complex and challenging to diagnose and treat, significantly impacting lives of those affected and their families. Limitation in the knowledge that persists for most rare diseases is due to the dearth of reliable data on rare diseases in India. A patient registry is a powerful tool for systematically collecting data and creating a database necessary for informing healthcare policy and its execution. The National Registry for Rare and Other Inherited Disorders (NRROID) is a prospective hospital-based study initiated by the Indian Council of Medical Research in 2019 currently at 23 centres in India, to gather comprehensive data on selected rare diseases, including natural history, treatment, and disease outcomes, and to create a database to support further research and assist in the development of policies aimed at improving healthcare outcomes for rare disease patients. Currently, six broad groups of disorders, namely, storage disorders, inborn errors of metabolism (small molecule), skeletal dysplasias, primary immunodeficiencies, neuromuscular disorders, and hematological disorders have been included for reporting in the registry. Presently, NRROID provides valuable data related to demography, clinical features, diagnosis, management, and some other aspects of rare diseases. Results : Till February 2025, registry enrolled 15,369 patients under the 6 broad rare disease groups encompassing 231 rare diseases. Regional distribution depicts that the highest number of rare disease patients enrolled are from North India (34%) followed by South India (29%). Neuromuscular disorders (6307) account for the highest number of patient enrollments, followed by Thalassemia (3276) and Storage disorders (1632). A significant predominance of male patients (75%) has been reported in the registry, and the majority of patients (81.15%) fall in the pediatric age group under 18 years of age. Conclusion : This article summarizes the implementation of India’s first national rare disease registry and highlights key demographic and clinical trends. The NRROID provides foundational data to inform policy, research, and clinical care for rare disease patients in India.
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