Context: Health Ministry has made available generic drugs to support the care and treatment of four ailments: Tyrosinemia-Type 1, Gaucher’s Disease, Wilson’s Disease, and the Dravet-Lennox Gastaut Syndrome.
About Rare Diseases:
- It is a debilitating lifelong disease or disorder that occurs infrequently in the human population.
- WHO defines rare disease with a prevalence of 1 or less, per 1000 population.
- There is no universally accepted definition of rare diseases India accept that a disease prevalence of less than 100 patients per 100,000 people is categorized as a rare disease.
- A rare disease, also referred to as an orphan disease, is a health condition that affects a small number of people compared to the general population.
- These diseases can be genetic or acquired.
- Some examples of rare diseases include Huntington's disease, cystic fibrosis, amyotrophic lateral sclerosis (ALS), Haemophilia, Thalassemia, Sickle-cell Anaemia, Cystic Fibrosis, auto-immune diseases and others types of muscular dystrophy.
- Due to the limited number of affected individuals, research and development for treatments may be insufficient, and patients may face difficulties in obtaining a timely and accurate diagnosis. The rarity of these diseases often makes it challenging to conduct clinical trials, gather data, and develop effective treatments.
Tyrosinemia-Type 1: It is a rare autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH) which is needed for the final break down of the amino acid tyrosine.
- Failure to properly break down tyrosine leads to abnormal accumulation of tyrosine and its metabolites in the liver, potentially resulting in severe liver disease.
- Tyrosine may also accumulate in the kidneys and central nervous system.
Gaucher’s Disease: Characterized by the accumulation of a fatty substance called glucocerebroside in various organs, particularly the spleen, liver, and bone marrow. This accumulation occurs due to a deficiency of an enzyme called.
- This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.
Wilson’s Disease: Also known as hepatolenticular degeneration, is a rare genetic disorder characterized by the accumulation of copper in various organs of the body, particularly the liver, brain, and cornea.
Dravet-Lennox Gastaut Syndrome: These are two distinct types of epileptic syndromes.
- Dravet syndrome, also known as severe myoclonic epilepsy of infancy (SMEI), is a rare and severe form of epilepsy that typically begins in the first year of life.
- Lennox-Gastaut syndrome is a severe form of childhood-onset epilepsy characterized by multiple types of seizures and cognitive impairment.
Rare diseases in India
- As per National Consortium for Research and Development on Therapeutic for Rare Diseases, approximately 450 rare diseases have been identified and reported in India however, 80% of all rare disease patients are affected by approximately 350 rare diseases.
- With an estimated burden of about 80 to 96 million cases reported annually in India.
- Moreover, 70-80% of rare diseases are of genetic nature, and thus are asymptomatic, but will appear in the person’s lifetime.
- In India, there are between 7000 - 8000 rare diseases, but less than 5% have therapies available to treat them.
Government Interventions
- National Policy for Rare Diseases, 2021 aims at lowering the incidence and prevalence of rare diseases based on an integrated and comprehensive preventive strategy encompassing awareness generation, premarital, post-marital, pre-conception and post-conception screening and counselling programs.
- Production Linked Incentive Scheme 2.0 for Pharmaceuticals, with an outlay of INR 15000 Crore providing financial stimulus to orphan drugs development under Category 1 of pharmaceutical goods in the Production Linked Incentive (PLI) Scheme.
- The Central Drugs Standard Control Organisation(CDSCO) has made provisions for fast-track processing of applications for rare diseases drugs for drug trials and experimental therapies and have exempted the application fee of potential drug candidates.
- Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN), a non-profit clinical genomics research network, has established a network of clinicians and scientists for largest clinical genomics research networks in India.
- Council of Scientific & Industrial Research (CSIR), established an Indian Genetic Disease Database (IGDD) for keeps track of mutations in the causal genes for genetic diseases common in India and provides valuable insights to physicians and researchers.