Lok Sabha Question No. 3193 (UNSTARRED), answered on 2019-07-12
Subject: Rare Diseases
Ministry: HEALTH AND FAMILY WELFARE
Asked by: Vinayak Bhaurao Raut, Girish Bhalchandra Bapat, Pritam Gopinath Munde, Shrikant Eknath Shinde

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

LOK SABHA UNSTARRED QUESTION NO. 3193 TO BE ANSWERED ON 12 TH JULY, 2019

## RARE DISEASES

## 3193. SHRI VINAYAK RAUT:

SHRI GIRISH BHALCHANDRA BAPAT: DR. PRITAM GOPINATHRAO MUNDE: DR. SHRIKANT EKNATH SHINDE:

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

- (a) whether an estimated 72 - 96 million Indians are affected by rare diseases and if so, the de thereof;
- (b) whether it is a fact that India has not arrived at an official consensus on the defini rare disease and if so, the reaction of the Government thereto;
- (c) whether the Government is considering to formulate a national policy for treatment of diseases and if so, the details thereof;
- (d) whether the Government has included rare diseases in its plan of action and if so, t thereof; and
- (e) the funds a llocated by the Government for rare diseases to each State during the last years?

## ANSWER THE MINISTER OF STATE IN THE MINISTRY OF HEALTH AND FAMILY WELFARE (SHRI ASHWINI KUMAR CHOUBEY)

- (a) to (e): Government of India does not maintain any such data at central level.

Government had formulated a National Policy for Treatment of Rare Diseases in t year  2017.  However,  the  Government  decided  to  review  the  Policy  in  the  light  of inf ormation and updates available/received for its further improvement and effec implementation.  Accordingly, the Policy has been kept in abeyance vide non - statutory Gazette Notification dated 18 - 12- 2018, till the revised Policy is issued or until furthe r orders, whichever is earlier.

Contd........

Pending revision of the National Policy, under the Umbrella Scheme of Rashtriya Aro Nidhi,  a  component  for  treatment  of  rare  disease  has  been  included  w.e.f.  01.01.201 providing one - time financial assistance to patients belonging to families living below thr poverty line for treatment of identified Rare Diseases ( Annexure ) in Government hospitals.

An amount of Rs.100 crore has been allocated for Rare Disease component of Umbrella Scheme  of  Rashtriya  Arogya  Nidhi  during  2019 - 20. Umbrella  Scheme  of  Rashtriya  Arogya Nidhi  is  a  Centrally  Sponsored  Scheme,  under  which  no  funds  are  released  to  St Governments.Financial assist ance for eligible patients is released to the treating Governm hospitals.

No funds were sanctioned under the National Policy for Treatment of Rare Diseas 2017 during the currency of the erstwhile policy.

…………………

## List of identified ra re diseases covered for treatment under the Umbrella Scheme of Rashtriya Arogya Nidhi

## 1. Disorders amenable to treatment with Hematopoietic Stem Cell Transplantation (HSCT)

- i.Lysosomal storage disorders in early stages for which Enzyme replacement Therapy (ERT)  is  presently  not  available  (eg  Metachromatic  Leukodystrophy,  Krabbe's disease  and  severe  form  of  Mucopolysaccharoidosis  (MPS)  type  I  within  first years of age.
- ii.Adrenoleukodystr ophy (early stages), before the onset of hard neurological signs.
- iii. Immune  deficiency  disorders  eg  Severe  Combined  Immunodeficiency  (SCID), Chronic Granulomatous disease, Wiskot Aldrich Syndrome,etc
- iv.Osteopetrosis
- v. Fanconi Anemia
- vi.Others to be decided on case to case basis

## 2 . Disorders amenable to organ transplantation

- i. Liver  Transplantation -Metabolic  Liver  diseases and  other  Inborn  Errors  of Metabolism (small molecule diseases)
- i. Tyrosinemia  (failure  to  respond  to  nitisinone  therapy  or  have  documente evi dence of malignant changes in hepatic tissue)
- ii. Glycogen storage disorders (GSD) I, III and IV due to poor metabolic contr multiple liver adenomas, or high risk for Hepatocellualr carcinoma or evidence of substantial cirrhosis or liver dysfunction or progressive liver failure,
- iii. MSUD (Maple Syrup Urine Disease),
- iv. Urea cycle disorders,
- v. Organic acidemias,
- vi. Wilson's disease (Decompensated cirrhosis).
- vii. Bile acid synthetic defects (Decomp ensated cirrhosis)
- viii. CriglerNajjar Type 1,
- ix. Alpha 1 antitrypsin deficiency (Decompensated cirrhosis)
- x. Progressive familial Intrahepatic Cholestasis (PFIC)(Decompensated cirrhosis)
- xi. Others to be decided -case to case basis

## ii. Renal Transplantation -

- i. Fabry's dis ease,
- ii. Autosomal recessive Polycystic Kidney Disease (ARPKD),
- iii. Autosomal dominant Polycystic Kidney Disease (ADPKD)
- iv. Others on case to case basis
- iii. Patients  requiring  combined  liver  and  kidney  transplants - Rarely  Methyl Malonic aciduria may require combined liver & Kidney transplant) etc .