Rare Diseases

Rare Diseases

News: A child artist of famous Dangal movie recently died due to a rare disease called dermatomyositis. It has brought to focus on the severity of rare diseases.

What is rare disease?
• While there is no universal definition of rare disease. The World Health Organization (WHO) defines rare diseases as conditions affecting fewer than or equal to 1 in 2,000 persons in any WHO-defined region.
• It is estimated that approximately 10,000 rare diseases exist globally, with 80% having identified genetic origins. These conditions often require specialized care and attention.

Status in India
• India harbors between 7,000 to 8,000 rare diseases, but less than 5% have available therapies.
• Rare diseases collectively affect nearly 1/5th of India’s population.
• Despite the challenges, efforts are being made to improve awareness, research, and treatment options for rare diseases in India

What are the Challenges posed by Rare Diseases in India?

Lack of Standardized Definition
• India lacks a uniform definition for rare diseases.
• Clarity is essential to guide policy formulation and resource allocation effectively.

Financial Burden on Patients
• Treatment for rare diseases is often expensive.
• Patients face financial strain due to ongoing (lifelong) treatment costs.
• Insurance policies typically do not cover these expenses.

Limited Availability of Therapies
• Less than 5% of rare diseases have available therapies in India. Despite this, rare diseases affect nearly 1/5th of the population.
• Less than 50% of the 450-odd rare diseases identified in India are treatable. Most patients typically receive only basic treatment that alleviates symptoms.

Epidemiological Data Challenges:
• Collecting accurate epidemiological data remains difficult.
• Lack of data impedes understanding the burden of diseases and estimating costs.

Lack of trained healthcare professionals
• Lack of trained healthcare professionals to interpret the signs and symptoms of rare diseases in the initial stages, has compounded the challenge posed by rare diseases in India.

Government of India initiatives:

National Policy for Rare Diseases, 2021

Key features
o Defining rare diseases for India.
o Government support in treatment (up to ₹50 lakhs).
o Development of manpower.
o Constitution of a consortium.
o Increasing affordability of drugs related to rare diseases.
• Categorization of Rare Diseases into 3 Groups
o Group 1- Disorders amenable to one-time curative treatment.
o Group 2 - Diseases requiring long term/lifelong treatment having relatively lower cost of treatment
o Group 3 - Diseases for which definitive treatment is available, but very high cost and lifelong therapy

National Policy on Research and Development and Innovation in Pharma-MedTech Sector
• Launched by the Indian government, this policy aims to promote research and innovation in the pharmaceutical and medical technology sectors.
• It provides a conducive environment for developing treatments for rare diseases

Made-in-India Drugs for Rare Diseases
• For the first time, domestically produced drugs have been launched for certain rare diseases. These drugs are more affordable than imported alternatives.
• Prioritized rare diseases include Tyrosinemia Type, Gaucher’s Disease, Wilson’s Disease, and Dravet or Lennox Gastaut Syndrome-seizures.

National Registry for Rare Diseases
• The policy proposes the creation of a national registry to maintain a database of rare diseases.
• This registry will aid in understanding prevalence, tracking patients, and planning interventions.