Rare Diseases

    Haryana Government Notified for providing financial assistance to persons suffering from rare diseases .

    Click Here to Apply

    Ministry of Health & Family Welfare, Government of India has notified ‘National Policy for Rare Diseases, 2021’ for the management of patients having rare diseases, which is directed towards prevention, early detection and treatment of such diseases. The policy has provision of free treatment facilities for persons suffering with such diseases at designated ‘Centres of Excellence’. Presently, there are approx. 55 medical conditions/ diseases notified as Rare Diseases under the said policy.

    List of Rare Diseases
    1. Lysosomal Storage Disorders (LSDs) 2. Mucopolysaccharoidosis (MPS) type I (severe form)
    3. Adrenoleukodystrophy (early stages), before the onset of hard neurological signs. 4. Severe Combined Immunodeficiency (SCID)
    5. Chronic Granulomatous disease 6. Wiskot Aldrich Syndrome
    7. Osteopetrosis 8. Fanconi Anemia
    9. Laron’s Syndrome 10. Tyrosinemia
    11. Glycogen storage disorders (GSD) I, III and IV 12. Multiple liver adenomas
    13. MSUD (Maple Syrup Urine Disease) 14. Organic acidemias.
    15. Fabry disease 16. Autosomal recessive Polycystic Kidney Disease (ARPKD)
    17. Autosomal dominant Polycystic Kidney Disease (ADPKD) 18. Phenylketonuria (PKU)
    19. Non-PKU hyperphenylalaninemia conditions 20. Tyrosinemia type 1 and 2
    21. Homocystinuria 22. Urea Cycle Enzyme defects
    23. Glutaric Aciduria type 1 and 2 24. Methyl Malonic Acidemia
    25. Propionic Acidemia 26. Isovaleric Acidemia
    27. Leucine sensitive hypoglycaemia 28. Galactosemia
    29. Glucose galactose malabsorbtion 30. Severe Food protein allergy
    31. NTBC for Tyrosinemia Type 1 32. Osteogenesis Imperfecta – Bisphosphonates therapy
    33. Prader Willi Syndrome 34. Turner syndrome
    35. Noonan syndrome 36. Cystic Fibrosis- Pancreatic enzyme supplement
    37. X-linked agammablobulinemia etc. 38. Wilson,s Disease
    39. Congenital Adrenal Hyperplasia (CAH) 40. Neonatal Onset Multisystem Inflammatory Disease (NOMID)
    41. Gaucher Disease (Type I & III) 42. Hurler Syndrome [Mucopolysaccharisosis (MPS) Type I] (attenuated forms)
    43. Hunter syndrome (MPS II) (attenuated form) 44. Pompe Disease (Both infantile & late onset)
    45. Fabry Disease diagnosed before significant end organ damage. 46. MPS IVA before development of disease complications.
    47. MPS VI before development of disease complications. 48. Cystic Fibrosis (Potentiators)
    49. Duchenne Muscular Dystrophy 50. Spinal Muscular Atrophy
    51. Wolman Disease 52. Hypophosphatasia
    53. Neuronal ceroid lipofuschinosis 54. Hypophosphatic Rickets
    55. Atypical Hemolytic Uremic Syndrome (AHUS)
    List of Centres of Excellence
    1. All India Institute of Medical Sciences (AIIMS) Sri Aurobindo Marg, Ansari Nagar, Ansari Nagar East, New Delhi, Delhi-110029.
    2. Maulana Azad Medical College (MAMC) 2, Bahadur Shah Zafar Marg, Maulana Azad Medical College Campus, Balmiki Basti, New Delhi, Delhi-110002.
    3. Sanjay Gandhi Postgraduate Institute of Medical Sciences New PMSSY Rd, Raibareli Rd, Lucknow, Uttar Pradesh-226014.
    4. Postgraduate Institute of Medical Education and Research (PGIMER) Madhya Marg, Sector 12, Chandigarh- 160012.
    5. Center for DNA Fingerprinting & Diagnostics Inner Ring Rd, Survey Colony, Industrial Development Area, Uppal, Secunderabad, Telangana.
    6. King Edward (VII) Memorial Hospital and Seth Gordhandas Sunderdas Medical College Acharya Donde Marg, Parel, Mumbai, Maharashtra-400012.
    7. Institute of Post-Graduate Medical Education and Research SSKM Hospital Rd, Bhowanipore, Kolkata, West Bengal- 700020.
    8. The Centre for Human Genetics (CHG) in Indira Gandhi Institute of Child Health, (IGICH), Electronics City Phase 1, Electronic City, Bengaluru, Karnataka-560100.
    9. All India Institute of Medical Sciences Marudhar Industrial Area, 2nd Phase, M.I.A. 1st Phase, Jodhpur.
    10. Institute of Child Health and Hospital for Children Bhanumati, Rina Mandal Rd., Egmore, Chennai.
    11. Sree  Avittam   Thirunal (SAT) Hospital & Government Medical College Thiruvananthapuram, Kerala.
    12. All India Institute of Medical Sciences, Bhopal

    Financial support

    Financial support, up to Rs. 50 Lakhs, is being provided to the patients suffering from any of the Rare Diseases, mentioned in the National Policy, for the treatment in any of the notified Centers of Excellence (CoE) as mentioned in National Policy for Rare Diseases, 2021.

    National Portal

    The annual cost of treating some rare diseases may exceed the amount allowed under the national policy, which is Rs. 50 Lakhs, and may exceed Rs. 1 crore. There is a provision for crowdfunding in such circumstances, and for the same reason,, a digital portal for crowdfunding & voluntary donations for patients of rare diseases, has been devised. All the patients with rare diseases are listed on this portal by the centres of excellence.

    General public is called upon to come forward and to donate for such management of such patients. Any individual patient may also be chosen for donation. Click Here

    Title Date View / Download
    NPRD amendment 18/01/2023
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    NPRD amendment 26/12/2022
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    NPRD amendment 12/10/2022
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    NPRD amendment 15/09/2022
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    NPRD amendment 19/05/2022
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    NPRD Policy 2021 01/01/2021
    Accessible Version : View(890 KB)