6 Diseases added to National Policy for Rare Diseases

• Ministry of Health & Family Welfare included six rare diseases under NPRD, 2021.
• Group 1- Laron’s Syndrome, a rare disease in which the body is unable to utilise the growth hormones resulting in short stature.
• Group 2-
  • Wilson’s disease, a rare disorder in which copper is accumulated in vital organs like liver, brain and others;
  • Congenital adrenal hyperplasia (CAH), a group of genetic disorders that affect the adrenal glands; and
  • Neonatal onset multisystem inflammatory disease (NOMID) that causes continuous inflammation and tissue damage
• Group 3-
  • Hypophosphatemic rickets, caused due to the defects in the renal handling of phosphorus; and
  • Atypical hemolytic uremic syndrome (AHUS), which affects kidney function.

About Rare diseases

• WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population.
  • There are between 7000 – 8000 rare diseases and about 95% have no approved treatment.
• NPRD aims at lowering incidence and prevalence of rare diseases through a comprehensive preventive strategy.

About NPRD

• Classification of diseases
  • Group 1: Disorders amenable to one-time curative treatment.
  • Group 2: Diseases requiring long term / lifelong treatment having relatively lower cost of treatment.
  • Group 3: Diseases for which definitive treatment is available but challenges are to make optimal patient selection.
• Government’s support in treatment Financial support under Umbrella Scheme of Rashtriya Arogaya Nidhi by Central Government for treatment of Group 1 diseases.
• State Governments can support patients listed under Group 2.