Benefits of policy on rare diseases not reaching patients: MP

Recently a Rajya Sabha MP has raised concerns over the benefits of the National Policy of Rare Diseases (NPRD) not reaching any patient with rare diseases.

Issues Raised by the MP:

• Unending delay and lack of urgency have claimed several lives.
• It is endangering the survival prospects of patients, largely children, diagnosed with rare diseases.
• The majority of these patients have been diagnosed with Gaucher disease, for which therapy approved by the Drug Controller General of India is available for many years.

About National Policy of Rare Diseases (NPRD)

• The National Policy of Rare Diseases (NPRD) was notified in March 2021.
• Aim:
  • To increase focus on indigenous research and local production of medicines.
  • To lower the cost of treatment of rare diseases.
  • To screen and detect rare diseases early at early stages, which will in turn help in their prevention.
• Categorization:

The policy has categorized rare diseases into three groups:

• • 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 an optimal patient selection for benefit, very high cost, and lifelong therapy.
• Financial Support:
• Provision for financial support of up to Rs. 50 lakhs to the patients suffering from any category of Rare Diseases and for treatment in any of the Centre of Excellence (CoE) mentioned in NPRD-2021, outside the Umbrella Scheme of Rashtriya Arogaya Nidhi.

Rashtriya Arogya Nidhi: The Scheme provides financial assistance to patients, living below the poverty line (BPL) and who are suffering from major life-threatening diseases, to receive medical treatment at any of the super speciality Government hospitals/institutes.

• Centres of Excellence:
  • The policy aims to strengthen tertiary health care facilities for the 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 crores for the upgradation of diagnostics facilities.

What are ‘rare diseases?

• These are often serious, chronic, and life-threatening conditions.
• WHO defines a rare disease as an often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population.
• However, different countries have their own definitions.
• A disease or disorder is defined as rare in India when it affects fewer than 1 in 2500 individuals.
• There may be as many as 7,000 rare diseases, individual diseases may be rare, and the total number of people with a rare disease is large.
• Examples: Lysosomal Storage Disorders (LSD), Gaucher disease, Pompe disease, cystic fibrosis, muscular dystrophy, spina bifida, haemophilia, MPS 1 and 2, and Fabry disease.
  
  
  

Treatment:

• About 95% of rare diseases have no approved treatment even when a correct diagnosis is made.
• Rare diseases are also called ‘orphan diseases’ and drugs to treat them are called “orphan drugs" because of the expensive nature of available drugs.