Centres of Excellence (COE)
The following are Centers of Excellence for Rare Diseases:
(Patients and Families are requested to visit one of these centers nearest to you and register yourself to avail Treatment)
1) All India Institute of Medical Sciences, New Delhi.
2) Maulana Azad Medical College, New Delhi.
3) Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow.
4) Post Graduate Institute of Medical Education and Research, Chandigarh.
5) Centre for DNA Fingerprinting & Diagnostics, Hyderabad.
6) King Edward Medical Hospital, Mumbai.
7) Institute of Post-Graduate Medical Education and Research, Kolkata.
8) Center for Human Genetics (CHG) with Indira Gandhi Hospital, Bengalur.
9) All India Institute of Medical Sciences, Jodhpur
10)Institute Of Child Health and Hospital for Children Egmore, Chennai.
11)Government Medical College, Thiruvananthapuram, Kerala.
Activities of the COEs would be as follows:
1) Treatment of rare diseases.
2) Screening – Antenatal, neonatal (specified disorders), High risk screening (both antenatal &in newborns and children).
3) Diagnostics- Cytogenetic, molecular, Metabolic.
4) Prevention by prenatal screening & diagnosis ,Education & Training at all levels.
5) Research in the area of low cost diagnostics & therapeutics.
Nidan Kendras:
Nidan Kendras have been set up by Department of Biotechnology (DBT)under Unique Methods of Management and treatment of Inherited Disorders (UMMID) project for genetic testing and counseling services. These Nidan Kendras will be performingscreening, genetic testing and counseling for rare diseases. Nidan Kendras possessing the facility for treatment may do so under the guidance and supervision of a COE.
List of Nidan Kendras is given below:
1)Lady Hardinge Medical College (LHMC), Delhi.
2)Nizam’s Institute of Medical Sciences (NIMS), Hyderabad, Telangana.
3)All India Institute of Medical Sciences (AIIMS), Jodhpur.
4)Army Hospital Research & Referral, Delhi.
5)Nil Ratan Sircar (NRS) Medical College and Hospital, Kolkata.
Government of India support in treatment:-
The following initiatives shall be taken for patients of Rare Diseases:
1)Financial support upto Rs. 20 lakh under the Umbrella Scheme of Rashtriya
Arogaya Nidhi( RAN)shall be provided by the Central Government for treatment, of those rare diseases that require a one-time treatment (diseases listed under Group 1). Beneficiaries for such financial assistance would not be limited to BPL families, but extended to about 40% of the population, who are eligible as per norms of Pradhan Mantri Jan Arogya Yojana, for their treatment in Government tertiary hospitals only.
(Please refer list of disease below or NPRD2021 Document?
2)State Governments can consider supporting patients of such rare diseases that can be managed with special diets or hormonal supplements or other relatively low cost interventions (Diseases listed under Group 2). (Please refer list of disease below or NPRD2021 Document?
3) The Government will endeavour to create alternate funding mechanism through setting up a digital platform for voluntary individual and corporate donors to contribute to the treatment cost of patients of rare diseases.
The notified hospitals will share information relating to the patients, diseases from which they are suffering, estimated cost of treatment and details of bank accounts for donation/ contribution through online system.
Groups of Disorders as per Policy
Group 1: Disorders amenable to one-time curative treatment:
1) Disorders amenable to treatment with Hematopoietic Stem Cell Transplantation(HSCT)
i. Such Lysosomal Storage Disorders (LSDs) for which Enzyme Replacement Therapy (ERT) is presently not available and severe form of Mucopolysaccharoidosis (MPS) type I within first 2 years of age.
ii. Adrenoleukodystrophy (early stages), before the onset of hard neurological signs.
iii. Immune deficiency disorders like Severe Combined Immuno Deficiency(SCID), Chronic Granulomatous Disease (CGD), Wiskot Aldrich Syndrome (WAS), etc.
iv. Osteopetrosis
v. Fanconi Anemia
2) Disorders amenable to organ transplantation
1) Liver Transplantation -Metabolic Liver diseases:
1)Tyrosinemia.
2) Glycogen storage disorders (GSD) I, III and IV due to poor metabolic control, multiple liver adenomas, or high risk for Hepatocellualr carcinoma or evidence of substantial cirrhosis or liver dysfunction or progressive liver failure.
3)MSUD (Maple Syrup Urine Disease).
4)Urea cycle disorders.
5)Organic acidemias.
2)Renal Transplantationa.
1) Fabry disease.
1) Autosomal recessive Polycystic Kidney Disease (ARPKD).
2) Autosomal dominant Polycystic Kidney Disease (ADPKD) etc.
3) Patients requiring combined liver and kidney transplants can also be considered if the same ceiling of funds is maintained. (Rarely Methyl Malonic aciduria may require combined liver & Kidney transplant) etc.
Group 2:
Diseases requiring long term / lifelong treatment having relatively lower cost of treatment and benefit has been documented in literature and annual or more frequent surveillance is required:
1) Disorders managed with special dietary formulae or Food for special medical purposes (FSMP)
i) Phenylketonuria (PKU).
ii) Non-PKU hyperphenylalaninemia conditions.
iii) Maple Syrup Urine Disease (MSUD).
iv) Tyrosinemia type 1 and 2.
v) Homocystinuria.
vi) Urea Cycle Enzyme defects.
vii) Glutaric Aciduria type 1 and 2.
viii) Methyl Malonic Acidemia.
ix) Propionic Acidemia.
x) Isovaleric Acidemia.
xi) Leucine sensitive hypoglycemia.
xii) Galactosemia.
xiii) Glucose galactose malabsorbtion.
xiv) Severe Food protein allergy.
2) Disorders that are amenable to other forms of therapy (hormone/ specific drugs).
i) NTBC for Tyrosinemia Type 1.
ii) Osteogenesis Imperfecta – Bisphosphonates therapy.
iii) Growth Hormone therapy for proven GH deficiency, Prader Willi Syndrome and Turner syndrome, Noonan syndrome.
iv) Cystic Fibrosis- Pancreatic enzyme supplement.
v) Primary Immune deficiency disorders -Intravenous immunoglobulin and sub cutaneous therapy (IVIG) replacement eg. X-linked agammablobulinemia etc.
vi) Sodium Benzoate, arginine, citrulline ,phenylacetate (Urea Cycle
disorders), carbaglu, Megavitamin therapy (Organic acidemias,
mitochondrial disorders)
vii) Others – Hemin (Panhematin) for Acute Intermittent Porphyria, High
dose Hydroxocobalamin injections (30mg/ml formulation – not
available in India and hence expensive if imported)
viii) Large neutral aminoacids, mitochondrial cocktail therapy, Sapropterin and other such molecules of proven clinical management in a subset of disorders.
Group 3:
Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.
3a) Based on the literature sufficient evidence for good long-term outcomes exists for the following disorders.
1.Gaucher Disease (Type I & III {without significant neurological impairment})
2. Hurler Syndrome [Mucopolysaccharisosis (MPS) Type I] (attenuated forms)
3. Hunter syndrome (MPS II) (attenuated form)
4. Pompe Disease(Both infantile & late onset diagnosed early before development of complications)
5. Fabry Disease diagnosed before significant end organ damage.
6. MPS IVA before development of disease complications.
7. MPS VI before development of disease complications.
8. DNAase for Cystic Fibrosis.
3b) For the following disorders for which the cost of treatment is very high and either long term follow up literature is awaited or has been done on small number of patients.
1.Cystic Fibrosis (Potentiators) 16
2. Duchenne Muscular Dystrophy (Antesensce oligoneucletides, PTC)
3. Spinal Muscular Atrophy (Antisense oligonucleotides both intravenous &oral & gene therapy)
4. Wolman Disease
5. Hypophosphatasia
6. Neuronal ceroid lipofuschinosis
Disclaimer- This information is based on the NPRD 2021 and for details your are requested to read full document.
Link For The Full Information Based On The NPRD:-
https://ordindia.in/wp-content/uploads/2021/07/NPRD-2021.pdf
LINK FOR THE TREATMENT CENTERS IN INDIA:-
