Orphan Diseases in India: A Growing Challenge and Hope for Treatment

What Are Orphan Diseases?

Orphan diseases, commonly known as rare diseases, are medical conditions that occur infrequently within a population. A prevalent definition categorizes a disease as rare when its prevalence rate is one case in a population of 10,000 people. These ailments are termed "orphans" for several reasons:

• Rarity: Their uncommon nature makes them difficult to diagnose, particularly for young medical practitioners who may not have encountered such cases.
• Limited Research: Historically, these conditions have not received extensive research attention due to their low occurrence, resulting in a lack of effective treatments.
• Limited Treatment Options: The scarcity of research often translates to few or no treatment alternatives available for orphan diseases.

However, the landscape is changing as awareness of rare diseases grows and advancements in genomic technologies facilitate better diagnosis. Regulatory bodies across various countries are beginning to offer incentives to spur research and development of pharmaceuticals targeting these neglected illnesses, leading to the introduction of "orphan drugs."

In recent years, there has been increasing interest in orphan diseases, with a notable rise in drug approvals by regulatory agencies for rare conditions and cancers. Nevertheless, the costs associated with these therapies can be exorbitant, especially in countries like India.

Efforts to Address Orphan Diseases

Efforts to tackle orphan diseases include initiatives from both government and citizen-led organizations. For instance, in India, there exists a National Policy for the Treatment of Rare Diseases. Furthermore, citizen-driven initiatives like the Dystrophy Annihilation Research Trust (DART) have made significant strides in developing treatments for rare conditions such as Duchenne's muscular dystrophy.

Moreover, research into orphan diseases can yield broader societal benefits. A recent investigation into a synthetic antibiotic known as rifapentine, initially used for tuberculosis treatment, has shown potential in curbing the spread of leprosy when administered to relatives of leprosy patients.

Orphan Diseases in India

Orphan diseases, or rare diseases, have a significant impact on individuals and families in India. Here are some examples of orphan diseases in the country and the ongoing efforts to tackle them:

• Duchenne's Muscular Dystrophy (DMD): This rare genetic disorder leads to progressive muscle degeneration and weakness. Parents of children with DMD in India have established the Dystrophy Annihilation Research Trust (DART), which collaborates with institutions like the Indian Institutes of Technology (IIT) and the All India Institute of Medical Sciences (AIIMS) in Jodhpur to conduct clinical trials and develop personalized treatments.
• Leprosy: While no longer highly prevalent in India, leprosy is still classified as a rare disease due to its low incidence. Research has unveiled significant findings, such as the effectiveness of the synthetic antibiotic rifapentine in preventing transmission, contributing to the Indian government's goal of a leprosy-free India by 2027.
• Cystic Fibrosis: Although less common in India compared to other regions, cystic fibrosis is a rare genetic disorder affecting the respiratory and digestive systems. Awareness and diagnosis of this condition are on the rise, and efforts are underway to enhance care and support for affected individuals.
• Hemophilia: This rare genetic disorder impairs the blood's ability to clot. Numerous support groups and organizations in India focus on raising awareness, improving access to treatment, and enhancing the quality of life for those with hemophilia.
• Lysosomal Storage Disorders: This group of rare inherited metabolic disorders is garnering increased attention, with initiatives aimed at boosting awareness and access to enzyme replacement therapies in India.

While these examples represent a fraction of the orphan diseases impacting people in India, they highlight the growing acknowledgment of these conditions and the initiatives aimed at improving diagnosis, treatment, and support for the affected individuals and their families.