Lok Sabha Question No. 728 (UNSTARRED), answered on 2021-07-23
Subject: Rare Diseases Policy
Ministry: HEALTH AND FAMILY WELFARE
Asked by: Prathap Simha, Annasaheb Shankar Jolle, D. M. Kathir Anand, Umesh G. Jadhav, Vellalath Kochukrishnan Nair. Sreekandan, B. Y. Raghavendra, L.S. Tejasvi Surya

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

LOK  SABHA UNSTARRED QUESTION NO. 728 TO BE ANSWERED ON 23 RD JULY, 2021

## RARE DISEASES POLICY

## 728. SHRI PRATHAP SIMHA:

SHRI ANNASAHEB SHANKAR JOLLE:

SHRI D.M. KATHIR ANAND:

DR. UMESH G. JADHAV:

SHRI V.K.SREEKANDAN:

SHRI B.Y. RAGHAVENDRA:

SHRI L.S. TEJASVI SURYA:

Will the Minister of HEALTH AND FAMILY WELFARE be pleased to state:

- (a) whether the Government is considering to finalise and notify the National Health Policy for Rare diseases, if so, the details thereof;
- (b) the objective and current status of the same;
- (c) the total number of suggestions received for the draft policy, State/UT -wise;
- (d)  the  number  of  rare  diseases  recognized  by  the Government  and  its  proposal  to  assist  the people suffering from such diseases particularly the low income groups;
- (e)  whether  the  Government  proposes  to  allocate increased  budget  for  this  policy  and  also considering to provide assistance to poor patients through AyushmanBharat, if so, the details thereof and the feasibility of the assistance likely to be provided through Ayushman Bharat; and
- (f)  whether  Government  is  considering  to  set  up  a National  Consortium  for  Research  and Development andTherapeutic s for Rare Diseases, if so, the details thereof?

## ANSWER THE MINISTER OF STATE IN THE MINISTRY OF HEALTH AND FAMILY WELFARE ( DR. BHARATI PRAVIN P AWAR )

- (a): National Policy for Rare Diseases, 2021(the Policy) has been finalized and put in p domain.The Policy can be accessed at website -

https://main.mohfw.gov.in/documents/policy .

- (b): The policy aims at lowering the incidence and prevalence of rare diseases based o integrated and comprehensive preventive strategy encompassing awareness generatio premarital, post - marital, pre - conception and post - conception screening and counselling programmes  to  prevent  births  of  children  with  rare  diseases,  and  within  the  constrai resources and competing health care priorities, enable access to affordable health care t of rare diseases.

(c): The total number of suggestions received for the draft policy is 279. State/UT - wise data is not maintained.

## (d) : The number of rare diseases categorized as per the Policy are as per Annexure - A.

Initiatives  for  treatment  support  for  patients  of  rare  diseases  under  the  Polic fol lows: - i. Financial support upto Rs. 20 lakh under the Umbrella Scheme of Rashtriya Arogaya N shall be provided by the Central Government for treatment, of those rare diseases that r one- time treatment (diseases listed under Group 1). Benefici aries for such financial assistance would not be limited to BPL families, but extended to about 40% of the population, who 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 be m with special diets or hormonal supplements or other relatively low cost interventions ( listed under Group 2).

iii. Keeping in view the resource constr aints, and a compelling need to prioritize the availabl resources  to  get  maximum  health  gains  for  the  community/population,  the  Government  wi endeavour  to  create  alternate  funding  mechanism  through  setting  up  a  digital  platfor voluntary individual and corporate donors to contribute to the treatment cost of patients of diseases.

iv.  Voluntary  crowd -funding  for  treatment:  Keeping  in  view  the  resource  constraint  an competing health priorities, it will be difficult for the Government to fully fi nance treatment of high cost rare diseases. The gap can however be filled by creating a digital platform for together notified hospitals where such patients are receiving treatment or come for treat the one hand, and prospective individual or corporate donors willing to support treatment of such patients.  The  notified  hospitals  will  share  information  relating  to  the  patients,  dis which they are suffering, estimated cost of treatment and details of bank accounts for d contr ibution through online system. Donors will be able to view the details of patients and funds to a particular hospital. This will enable donors from various sections of the s donate  funds,  which  will  be  utilized  for  treatment  of  patients  suf fering  from  rare  diseases, especially those under Group 3. Conferences will be organised with corporate sector comp to motivate them to donate generously through digital platform. Ministry of Corporate A will be requested to encourage PSUs and c orporate houses to contribute as per the Companies Act as well as the provisions of the Companies (Corporate Social Responsibility Policy) 2014 (CSR Rules). Promoting health care including preventive health care is included in in the Schedu le for CSR activities.

Treatment cost of the patient will be first charge on this fund. Any leftover fu meeting treatment cost can be utilized for research purpose also.

(e): At present financial assistance to poor patients, living below threshold poverty line and also  to  the  population,  who  are  eligible  as  per  norms  of  Pradhan  Mantri  Jan  Arogya  Yo under  Ayushman  Bharat,  suffering  from  specified  rare  diseases  for  their  treatmen Government  Hospitals  or  Institutes  having  super specialty  facilities  /  Government  tertiary hospitals is being provided under the Umbrella Scheme of Rashtriya Arogya Nidhi (RAN). T budget allocation for the current financial year  2021 - 2022 for rare diseases is Rupees 25 Crore.

(f): National Policy f or Rare Diseases, 2021 provides for National Consortium for Research and  Development  on  therapeutics  for  Rare  Diseases with  an  expanded  mandate  to  include research & development, technology transfer and indigenization of therapeutics for rare d Itwill be convened by Department of Health Research (DHR) with ICMR as a member.

## Annexure - A

India faces the limitation of lack of epidemiological data to be able to define rar in terms of prevalence or prevalence rate, which has been used by other countries. To ov this,  a  hospital  based  National  Registry  for  Rare  Diseases  has  been initi ted  by  ICMR  by involving  centers  across  the  country  that  are  involved  in  diagnosis  and  management  of Diseases. This will yield much needed epidemiological data for rare diseases.

Till the time such data is available ,for the purpose of Nationa l Policy for Rare Diseases, 2021, the following groups of disorders have been identified and categorized by experts based on their clinical experience:

## Group 1: Disorders amenable to one - time curative treatment:

- a) Disorders amenable to treatment with He matopoietic 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 wi first 2 years of age.
- ii. Adreno leukodystrophy (early stages), before the onset of hard neurological signs.
- iii. Immune deficiency disorders like Severe Combined Immunodeficiency (SCID), Chron Granulomatous disease, Wiskot Aldrich Syndrome etc.
- iv. Osteopetrosis
- v. Fanconi Anemia

## 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, mul 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.
- ii. Renal Transplantation -a. Fabry disease
- b. Autosomal recessive Polycystic Kidney Disease (ARPKD),
- c. Autosomal dominant Polycystic Kidney Disease (ADPKD) etc.

iii. Patients requiring combined liver and kidney transplants can also be considered if the ceiling of funds is maintained. (Rarely Methyl Malonicaciduria may require combined liver & Kidney transplant) etc.

dose

Group  2:  Diseases  requiring  long  term  /  lifelong  treatment  having  relatively  lower  co treatment  and  benefit  has  been  documented  in  literature  and  annual  or  more  frequen surveillanc e is required:

- a) Disorders  managed  with  special  dietary  formulae  or  Food  for  special  medical  purpose (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

- b) Disorders that are amenable to other forms of therapy (hormone/ specific drugs)

- i) NTBC for Tyrosinemia Type 1

- ii) Osteogenes isImperfecta - Bisphosphonates therapy

- iii) Growth  Hormone  therapy  for  proven  GH  deficiency,  Prader  Willi  Syndrome,  Turner syndrome and Noonan syndrome.

- iv) Cystic Fibrosis -Pancreatic enzyme supplement

- v) Primary Immune deficiency disorders -Intravenous immunoglobulin and sub cutaneous therapy (I V G) replacement eg. X - linked agammablobulinemia etc.

- vi) Sodium Benzoate, arginine, citrulline, phenylacetate (Urea Cycle disorders), carb Megavitamin therapy (Organic acidemias, mitochondrial disorders)

- vii) Others - Hemin (Panhematin ) for Acute Intermittent Porphyria, High Hydroxocobalamin  injections  (30mg/ml  formulation - not  available  in  India  and  hence expensive if imported)

viii) Large neutral aminoacids, mitochondrial cocktail therapy, Sapropterin and other s molecules o f proven clinical management in a subset of disorders

- Group  3:  Diseases  for  which  definitive  treatment  is  available  but  challenges  are  to optimal patient selection for benefit, very high cost and lifelong therapy.
- 3a)  Based  on  the  literature  suffic ient  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 (M PS II) (attenuated form)
4.  Pompe  Disease  (Both  infantile  &  late  onsetdiagnosed  early  before  development complications)
5. Fabry Disease diagnosed before significant end organ damage.
6. MPS IVA before development of disease complications.
7. MPS VIbefore development of disease complications.
8. DNAase for Cystic Fibrosis.
- 3b) For the following disorders for which the cost of treatment is very high and eithe term follow up literature is awaited or has been done on small number of patients
1. Cystic Fibrosis (Potentiators)
2. Duchenne Muscular Dystrophy (Antesensce oligoneucletides, PTC)
3.  Spinal  Muscular  Atrophy  (Antisense  oligonucleotides  both  intravenous  &  oral  &  ge therapy)
4. Wolman Disease
5. Hypophosphatasia
6. Neuronal ceroid lipofuschinosis

The list of diseases under Group 1, Group 2 and Group 3 are not exhaustive and wil reviewed periodically based on updated scientific data by the Technical Committee.

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