Lok Sabha Question No. 936 (UNSTARRED), answered on 2020-02-07
Subject: National Policy on Rare Diseases
Ministry: HEALTH AND FAMILY WELFARE
Asked by: Meenakashi Lekhi, Imtiaz Jaleel Syed, Sanjay Sadashivrao Mandlik, Shrirang Appa Barne, Asaduddin Owaisi, Bidyut Baran Mahato, Gajanan Chandrakant Kirtikar, Sudheer Gupta, M. Selvaraj

## GOVERNMENT OF INDIA MINISTRY OF HEALTH AND FAMILY WELFARE DEPARTMENT OF HEALTH AND FAMILY WELFARE

LOK SABHA UNSTARRED QUESTION NO. 936 TO BE ANSWERED ON 07 TH FEBRUARY, 20 20

## NATIONAL POLICY ON R ARE DISEASES

## 936. SHRIMATI MEENAKASHI LEKHI:

SHRI SYED IMTIAZ JALEEL:

SHRI SANJAY SADASHIV RAO MANDLIK:

SHRI SHRIRANG APPA BARNE:

SHRI ASADUDDIN OWAISI:

SHRI BIDYUT BARAN MAHATO:

SHRI GAJANAN KIRTIKAR:

SHRI SUDHEER GUPTA:

SHRI M. SELVARAJ:

Will the Minister of HEALTH AND FAMILY WELFARE

be pleased to state:

- (a)  whether  the  Government  is  working  on  a  Draft  National  Policy  for  treatment  of Diseases in the country and invited views of all the stakeholders on the said policy, details thereof along with the aims and objectiv e and salient features thereon and the timeline for its finalization, notification and implementation;
- (b) whether the policy provides financial assistance to children only till the age of lysosomal disorders which is likely to be inadequate for poor and lower income group families, if so, the details thereof and the manner in which the policy would ensure safety nets fo income  group  families,  treatment  of  patients  for  rare  diseases  with  no  approved  treatm requiring import of drug s;
- (c)  whether  there  is  scarcity  of  funds  for  rare  diseases  and  a  separate  fund  is  pro treatment of poor people, if so, the details thereof along with Centre and States share t the funds made available for the treatment of rare disease s during each of the last three years and the current year;
- (d) whether the Government does not maintain any comprehensive data on prevalence of r diseases and the associated morbidity/mortality, if so, the reasons therefor; and
- (e) whether ICMR has been proposed to create a data base to provide Rs. 15 lakh assistance treatment of rare diseases under different schemes of the Government, if so, the details t

## ANSWER THE MINISTER OF STATE IN THE MINISTRY OF HEALTH AND FAMILY WELFARE

(SHRI AS HWINI KUMAR CHOUBEY)

- (a)  to  (e):  A  draft  National  Policy  for  Rare  Diseases  has  been  finalized  and  placed website of the Ministry of Health and Family Welfare with a view to elicit comments / vie the stakeholders, including the States/UTs and the general public by 1 5- 02- 2020.

The  draft  policy  provides  for  lowering  the  incidence  of  rare  diseases based  on  an integrated preventive strategy encompassing awareness generation and screening programmes and, within the constraints on resources and competing health care priorities, enable a affordable health care to patients of rare diseases which are amenable to one - time treatment.

The draft policy has noted that number of persons suffering fr om diseases considered rare globally, is lacking in India and accordingly provides that for the purpose of the term rare diseases shall construe three goup of disorders ( Annexure) identified and categorised by  experts  based  on  their  clinical  exp erience. Considering  the  limited  data  available  on  rare diseases,  and  in  the  light  of  competing  health  priorities,  the  focus  of  the  dradt  po prevention of rare diseases as a priority for all the three groups of rare diseases id experts .

The draft policy further provides for:

- i. Financial support upto Rs. 15 lakh under the Umbrella Scheme of Rashtriya Arogaya Nidhi by the Central Government for treatment  of those rare diseases that require o -time treatment (diseases listed under Group I of Annexure ). Beneficiaries for such financial assistance would not be limited to BPL families, but extended to 40% of population who are eligible as per norms of Pradhan Mantri Jan Arogya Yojana, for their treatment in Government tertiary hospitals only.
- ii. State Governments can consider supporting patients of such rare diseases that can managed  with  special  diets  or  hormonal  supplements  or  other  relatively  low  cos interventions (Diseases listed under Group II of Annexure.
- iii. Keeping  in  view  the  reso urce  constraints,  and  a  compelling  need  to  prioritize  the available resources to get maximum health gains for the community/population, polic also provides for endeavour by the Government to create alternate funding mechanism through   setting up a digita l pla form for voluntary individual and corporate donors to contribute to the treatment cost of patients of rare diseases.
- iv. Creating a National Registry for rare diseases at ICMR with the objective of prepar a  database  of  various  rare  diseases,  for  whic h  action  has  already  been  initiated  by ICMR.

In the meanwhile, under the Umbrella Scheme of Rashtriya Arogya Nidhi, a component o rare disease has been included w.e.f. 01.01.2019 for providing one - time financial assistance upto Rs.15 lakh to patients belonging to families living below threshold poverty line for treat identified Rare Diseases amenable to one - time treatment in Government hospitals.  An amount of  Rs.100  crore  has  been  allocated  for  Rare  Disease  component  of  Umbrella  Sc heme  of Rashtriya Arogya Nidhi during 2019 - 20.

..................

## List of identified rare diseases covered for treatment under the Umbrella Scheme of RashtriyaArogyaNidhi

Group 1: Disorders amenable to one time curative treatment:

- a) Disorders amenable to treatment with Hematopoietic Stem Cell Transplantation (HSCT) -
- a. Such  Lysosomal  Storage  Disorders  (LSDs)  for  which  Enzyme  replacement Therapy (ERT) is presently not available and severe form Mucopolysaccharoidosis (MPS) type I within first 2 years of age.

of

- b. Adrenoleukodystrophy  (early  stages),  before  the  onset  of  hard  neurological signs.
- c. Immune deficiency disorders like Severe Combined Immunodeficiency (SCID), Chronic Granulomatous disease, Wiskot Aldrich Syndrome,etc
- d. Osteopetrosis
- e. FanconiAnemia
- f. Others if any to be decided on case to case basis by a technical committee
- b) Disorders amenable to organ transplantation
- i) Liver Transplantation - Metabolic Liver diseases:
- a. Tyrosinemia,
- b. 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,
- c. MSUD (Maple Syrup Urine Disease),
- d. Urea cycle disorders,
- e. Organic acidemias
13. ii) RenalTransplantation -
- a. Fabry's disease
- b. Autosomal recessive Polycystic Kidney Disease (ARPKD),
- c. Autosomal dominant Polycystic Kidney Disease (ADPKD) etc
17. iii) Patients requiring combined liver and kidney transplants can also be considered the same ceiling of funds i s maintained. ( Rarely Methyl Malonic aciduria may require combined liver & Kidney transplant) etc
18. Group 2: Diseases requiring long term / lifelong treatment having relatively lower cos treatment  and  benefit  has  been  documented  in  literature  and  a nnual  or  more  frequent surveillance is required:
- a) Disorders managed with special dietary formulae or Food for special medical purpose (FSMP)
- i) Phenylketonuria (PKU)
21. ii) Non - PKU hyperphenylalaninemia conditions
22. iii) Maple Syrup Urine Disease (MSUD)
23. iv) Tyrosinemia type 1 and 2
- v) Homocystinuria
25. vi) Urea Cycle Enzyme defects
26. vii) Glutaric Aciduria type 1 and 2
27. viii) Methyl Malonic Acidemia
28. ix) Propionic Acidemia
- x) Isovaleric Acidemia
30. xi) Leucine sensitive hypoglycemia
31. xii) Galactosemia
32. xiii) Glucose galactose malabsorbtion
33. xiv) Severe Food protein allergy
- b)    Disorders that are amenable to other forms of therapy (hormone/ specific drugs)
- i) NTBC for Tyrosinemia Type 1
36. ii) Osteogenesis Imperfecta -Bisphosphonates therapy
37. iii) Growth  Hormone  therapy  for  proven  GH  deficiency  ,  Prader  Willi Syndrome and Turner syndr ome, others (to be decided on case to case basis by technical committee)
38. iv) Cystic Fibrosis -Pancreatic enzyme supplement
- v) Primary Immune deficiency disorders -Intravenous immunoglobulin therapy (IVIG) replacement eg. X - linked agammablobulinemia etc.
40. vi) Sodium Benzoate, arginine, ,citrulline ,phenylacetate (Urea disorders), carbaglu, Megavitamin therapy (Organic mitochondrial disorders)

Cycle acidemias,

- vii) Others-Hemin (Panhematin) for Acute intermittent Porphyria, High dose Hydroxocobalamin  injections  (30mg/ml  f ormulation -not  available  in India and hence expensive if imported)
- viii) Others  (if  any)  to  be  decided  on  case - to - case  basis,  by  a  technical committee.

Group  3:    Diseases  for  which  definitive treatm nt  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 diagnosed early (Both infantile & late onset)
5. Fabry Disease diagnosed before significant end organ damage.
6. Spinal Muscular Atroph y
7. MPS IVA
8. MPS VI
- 3b) For the following disorders for which the cost of treatment is very high and either term follow up literature is awaited or has been done on small number   of patients
1. Wolman Disease
2. Hypophosphatasia
3. Neuronal ceroid lipofuscinosis
4. Cystic Fibrosis
5. Duchenne Muscular Dystrophy