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Patient advocacy groups are urging immediate intervention for rare disease patients, including many children, due to delays in implementing the National Policy for Rare Diseases 2021.

Rare Disease

A "rare disease" is a medical condition that affects a very small number of people compared to the general population, making diagnosis and treatment challenging due to their low prevalence and limited research opportunities.

Many rare diseases are genetic in origin, meaning they are caused by mutations in genes passed down through families, and can manifest with a wide range of symptoms depending on the specific condition. 

Due to their rarity, diagnosing a rare disease can be difficult as healthcare providers might not be familiar with the symptoms and may require specialized testing to confirm. 

Examples of rare diseases:

• Cystic fibrosis: A genetic disorder affecting the lungs and digestive system 
• Huntington's disease: A neurodegenerative disorder causing progressive cognitive decline and movement problems 
• Muscular dystrophy: A group of genetic disorders leading to muscle weakness and wasting 
• Hemophilia: A bleeding disorder caused by deficiency of clotting factors in the blood 
• Gaucher disease: A genetic disorder affecting the body's ability to break down certain fats 

About the National Policy for Rare Diseases (NPRD) 2021

It was launched by the Ministry of Health & Family Welfare in March 2021 to provide financial assistance and treatment for rare diseases. 

The policy also aims to reduce the prevalence of rare diseases through prevention and awareness. 

It categorizes rare diseases into three groups based on their treatment requirements and challenges:

• Group 1: Disorders that are amenable to one-time curative treatment (e.g., bone marrow transplantation for certain genetic disorders).
• Group 2: Diseases that require long-term or lifelong treatment with relatively lower costs (e.g., enzyme replacement therapy for some conditions).
• Group 3: Diseases for which definitive treatment is available, but challenges include optimal patient selection, very high costs, and the need for lifelong therapy.

Features of the NPRD 2021

• The policy provides financial support of up to ₹50 lakhs per patient for treatment at notified Centres of Excellence (CoEs). This financial assistance is intended to cover the high costs associated with the treatment of rare diseases, particularly for Group 1 and Group 3 disorders.
• It promotes awareness and screening programs to prevent the birth of children with rare diseases. 
• It promotes research and development to diagnose and treat rare diseases. 
• It promotes the local development and manufacturing of drugs for rare diseases. 
• It provides exemption from Basic Customs Duty (BCD) and Integrated Goods and Services Tax (IGST) on the import of drugs and medicines for rare diseases. 
• The policy established the Central Technical Committee for Rare Diseases (CTCRD) to provide technical guidance.

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Source: 

INDIA TODAY