National Policy of Rare Diseases (NPRD)

An MP recently expressed concern about rare diseases, claiming that the new policy has benefited no patients.

Important Points

• Policy: In March 2021, the Union Ministry of Health and Family Welfare notified the NPRD.
• It increased funding support to 50 lahks per patient with rare diseases for their treatment in May 2022.

Current Issue:

• Despite being in place for several months, the benefits of the National Policy for Rare Diseases (NPRD) have yet to reach any patients suffering from rare diseases.
• The Centres of Excellence (CoEinterminable )'s delay and lack of urgency have claimed several young lives and jeopardised the survival prospects of 415 patients, mostly children, diagnosed with rare diseases.
• These illnesses included Lysosomal storage disorders, Gaucher disease, and others.
• Pompe disease, MPS 1 and 2, and Fabry disease are all genetic disorders.
• Many CoEs had yet to seek financial assistance in accordance with the policy for treating patients.

Diseases that are uncommon:

• Rare diseases (also known as "Orphan" diseases) are diseases that occur infrequently in a population, and three indicators are used (the total number of people with the disease, its prevalence, and the availability/inaccessibility of treatment options).
• A rare disease is defined by the World Health Organization (WHO) as having a frequency of less than 6.5-10 per 10,000 people.
• According to estimates, there are 7,000 known rare diseases in the world, with an estimated 300 million patients.

The Difficulties of Fighting Rare Diseases:

• These diseases are defined differently in different countries and have fundamentally different challenges than more common diseases.
• Inherited cancers, autoimmune disorders, congenital malformations, Hirschsprung's disease, Gaucher disease, cystic fibrosis, muscular dystrophies, and Lysosomal Storage Disorders are examples of rare diseases, according to the Organization for Rare Diseases India (LSDs)
• Less than 5% have therapies to treat them, 95% have no approved treatment, and less than one in ten patients receive disease-specific treatment.
• Where drugs are available, they are prohibitively expensive, putting enormous strain on resources, and the government has been unable to provide them for free.
• This is most noticeable during the clinical development stage when the task is significantly complicated by rarity.
• The small number of patients, the logistics of reaching widely dispersed patients, the lack of validated biomarkers and surrogate end-points, and the lack of clinical expertise and expert centers are all issues.
• In India, there is a lack of epidemiological data on the prevalence here and hence has only classified certain diseases as 'rare'.
• In India, there are an estimated 70 million patients.

National Policy for Rare Diseases, 2021:

• It provides financial assistance for one-time treatment of up to Rs. 20 lakh, implements a crowdfunding mechanism, establishes a registry of rare diseases, and promotes early detection.
• The Centre first prepared it in 2017 but put it on hold due to questions about its formation, criteria, cost sharing, beneficiaries, and so on.
• An expert group was formed in 2018 to review these questions, and it submitted its report in January 2021, after which the policy was made public after another round of consultation.

It divides 'rare disease' into three categories:

Group 1: Disorders that can be treated only once.

• Beneficiaries were eligible for a one-time treatment cost of up to Rs. 20 lakh if they met the definition of the Pradhan Mantri Jan Arogya Yojana and were treated in a government tertiary care hospital under the Rashtriya Arogya Nidhi scheme (RAN).
• RAN provides financial assistance to patients living below the poverty line (BPL) and suffering from major life-threatening diseases in order for them to receive medical treatment at any of the super specialty Government hospitals/institutions.

Group 2:

• Diseases requiring long-term/lifelong treatment, with relatively lower treatment costs and documented benefits in the literature, and requiring annual or more frequent surveillance.

• States could "consider" providing assistance to patients suffering from rare diseases that can be managed with special diets or hormonal supplements.

Group 3:

• Diseases for which there is a definitive treatment but the challenges are an optimal patient selection for benefit, very high cost, and lifelong therapy.

• The government intends to notify selected Centres of Excellence at premier government hospitals for the comprehensive management of rare diseases.
• The Centres of Excellence would receive a one-time grant of up to Rs. 5 crore each for the development of infrastructure for screening, testing, and treatment.

Significance:

• It will place a greater emphasis on indigenous research and medicine production.
• Corporates and individuals will be encouraged to provide financial support through a robust IT platform under crowdfunding.
• The national hospital-based registry will ensure accurate data and comprehensive disease definitions.
• Early detection and screening will aid in the prevention of rare diseases.

Concerns About the Policy:

• It provides no assistance to patients under the previous National Policy for the Treatment of Rare Diseases 2017.
• Patients with Group 3 rare diseases are on their own due to a lack of appropriate selection criteria.