National Policy of Rare Diseases

Recently, a Rajya Sabha Member of Parliament (MP) raised concerns over National Policy of Rare Diseases (NPRD) as it did not reach any patient with rare diseases even after several months since its introduction.

Key Provisions of the Policy

Categorization:
- Group 1: Disorders amenable to one-time curative treatment.
- Group 2: Those requiring long term or lifelong treatment.
- Group 3: Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.
Financial Support:
- Those who are suffering from rare diseases listed under Group 1 will have the financial support of up to Rs. 20 lakh under the umbrella scheme of Rashtriya Arogya Nidhi.
  - Rashtriya Arogya Nidhi provides for financial assistance to patients, living Below Poverty Line (BPL) and who are suffering from major life-threatening diseases, to receive medical treatment at any of the super specialty Government hospitals / institutes.
    - Beneficiaries for such financial assistance would not be limited to BPL families, but extended to about 40% of the population, who are eligible as per norms of Pradhan Mantri Jan Arogya Yojana, for their treatment in Government tertiary hospitals only.
Alternate Funding:
- This includes voluntary crowdfunding treatment by setting up a digital platform for voluntary individual contribution and corporate donors to voluntarily contribute to the treatment cost of patients of rare diseases.
Centres of Excellence:
- The policy aims to strengthen tertiary health care facilities for prevention and treatment of rare diseases through designating eight health facilities as ‘Centres of Excellence’ and these will also be provided one-time financial support of up to Rs. 5 crore for upgradation of diagnostics facilities.
National Registry:
- A national hospital-based registry of rare diseases will be created to ensure adequate data and comprehensive definitions of such diseases are available for those interested in research and development.

What is Rare disease?

Lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population is defined by the World Health Organization (WHO) as a rare disease.
Some examples of rare diseases include hemangiomas, Hirschsprung disease, Gaucher disease etc.

Challenges in Fighting Rare Diseases

These diseases have differing definitions in various countries and present fundamentally different challenges from those of more common diseases.
- According to the Organization for Rare Diseases India, rare diseases include inherited cancers, autoimmune disorders, congenital malformations, Hirschsprung’s disease, Gaucher disease, cystic fibrosis, muscular dystrophies and Lysosomal Storage Disorders (LSDs)
Less than 5% have therapies available to treat them and about 95% have no approved treatment and less than 1 in 10 patients receive disease-specific treatment.
Where drugs are available, they are prohibitively expensive, placing immense strain on resources and also the government has not been able to provide these for free.
This is most apparent during the clinical development stage when rarity significantly complicates the task.
- Problems include the small number of patients, the logistics involved in reaching widely dispersed patients, the lack of validated biomarkers and surrogate end-points, and limited clinical expertise and expert centres.
In India, there is a lack of epidemiological data on the prevalence here and hence has only classified certain diseases as ‘rare’.
- There are an estimated 70 million patients in India.

FAQs related to the National Policy of Rare Diseases

Q1: What is the National Policy of Rare Diseases (NPRD)?

A1: The National Policy of Rare Diseases is a policy introduced by the Indian government to address the needs of patients suffering from rare diseases. It categorizes rare diseases into different groups based on the type of treatment required and provides financial support, alternate funding options, and designated Centers of Excellence for their treatment.

Q2: What are the key provisions of the National Policy of Rare Diseases?

A2: The key provisions include categorizing rare diseases into different groups based on treatment needs, providing financial support of up to Rs. 20 lakh under the Rashtriya Arogya Nidhi scheme, establishing a national registry of rare diseases, setting up Centers of Excellence, and exploring alternate funding options such as voluntary crowdfunding.

Q3: How does the financial support work under the National Policy of Rare Diseases?

A3: Patients suffering from rare diseases listed under Group 1 of the policy will receive financial support of up to Rs. 20 lakh under the Rashtriya Arogya Nidhi scheme. This financial assistance is not limited to Below Poverty Line (BPL) families but can be extended to about 40% of the population eligible under the Pradhan Mantri Jan Arogya Yojana.

Q4: What are the challenges in fighting rare diseases?

A4: Rare diseases present unique challenges due to their low prevalence, limited treatment options, high treatment costs, and lack of epidemiological data. These diseases often require specialized expertise and resources, and the small patient population makes it difficult to conduct clinical trials and develop effective therapies. Additionally, the high cost of available treatments and the lack of government-provided free treatment further compound the challenges.