National Policy on Rare Diseases

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29-Jul-2022: Initiatives by the Government for treatment of rare diseases

The Government has launched National Policy for Rare Diseases (NPRD), 2021 in March, 2021 for the treatment of rare disease patients. The salient features of NPRD, 2021 are as under:

  • The rare diseases have been identified and categorized into 3 groups namely Group 1, Group 2 and Group 3.

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

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.

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.

  • Provision for financial support of up to Rs. 50 lakhs to the patients suffering from any category of the Rare Diseases and for treatment in any of the Centre of Excellence (CoE) mentioned in NPRD-2021, outside the Umbrella Scheme of Rashtriya Aarogya Nidhi.
  • In order to receive financial assistance for treatment of rare disease, the patient of the nearby area may approach the nearest Centre of Excellence to get him assessed and avail the benefits.
  • Eight (08) Centres of Excellence (CoEs) have been identified for diagnosis, prevention and treatment of rare diseases.
  • Five Nidan Kendras have been set up for genetic testing and counselling services.

The NPRD, 2021 has provisions for promotion of research and development for diagnosis and treatment of rare diseases; promotion of local development and manufacture of drugs and creation of conducive environment for indigenous manufacturing of drugs for rare diseases at affordable prices.

Department of Pharmaceuticals has initiated the implementation of Production Linked Incentive Scheme for Pharmaceuticals. The Scheme provides for financial incentives to manufacturers selected under the Scheme for domestic manufacturing of various product categories, which also include Orphan drugs.

Department of Revenue, Ministry of Finance vide their Notification No. 46/2021-Customs dated 30.09.2021 gives full waiver of Basic Customs Duty (BCD) and Integrated Goods and Services Tax (IGST) to drugs imported (personal use only) for treatment of Spinal Muscular Atrophy (SMA) rare disease, thereby making the medicines for SMA rare disease more affordable.

In addition, Department of Revenue, Ministry of Finance vide their Notification No. 02/2022-Customs dated 01.02.2022 has given exemption from Basic Customs Duty to drugs or medicines, which are used in the treatment of Rare Diseases when imported by Centres of Excellence (CoEs) as specified in NPRD, 2021 or any person or institution on recommendation of any Centre of Excellence listed in NPRD, 2021, certifying that the person (by name) for whom the drugs or medicines are imported, is suffering from a rare disease (to be specified by name) and requires the drugs or medicines for the treatment of said rare disease.

21-Dec-2021: Update on Implementation of National Policy for Rare Diseases

In order to provide facilities for treatment and care of patients suffering from rare diseases, eight (08) Centres of Excellence have been notified, which are premier Government tertiary hospitals with facilities for diagnosis, prevention and treatment of rare diseases. List of Centres of Excellence (CoEs) is given below:

  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, Bengaluru

On the basis of provisions envisaged under National Policy for Rare Diseases, 2021, with regard to providing financial assistance to the patients suffering from rare diseases, it is submitted that for the diseases/ disorders amenable to one time curative treatment (listed under Group -1), financial support will be provided under umbrella scheme of RAN i.e. an amount up to Rs. 20 lakh only for entitled beneficiaries shall be provided by the Central Government. The diseases requiring long term / lifelong treatment having relatively lower cost of treatment (listed under Group 2), the financial support is envisaged to be provided by the State Governments. The diseases for which definite treatment is available but involves very high cost and lifelong therapy (listed under Group 3), the policy provides assistance to the patients by creation of Digital Platform for inviting voluntary donations from individuals and corporate donors. Donors will have a choice to make donations to different Centres of Excellence (CoEs) and for the patients’ treatment by these CoEs. Funds are to be utilized in a decentralised manner, i.e. every Centre of Excellence (CoE) will have its own Rare Disease Fund which is to be utilized with the approval of in charge concerned.

The Department of Biotechnology under the Unique Methods of Management of Inherited Disorders (UMMID) initiative has supported the establishment of Genetic Diagnostic Units i.e. National Inherited Disorders Administration Kendras (NIDAN Kendras) to provide comprehensive clinical care including diagnosis, management, multidisciplinary care, counseling, prenatal testing; Training Program for producing skilled clinicians in the area of Human Genetics (Biochemical Genetics, Cytogenetics, Molecular Genetics, Clinical Genetics and Comprehensive Clinical Care); and Screening Program for pregnant women and newborn babies for diagnosis of inherited genetic diseases in aspirational districts to provide comprehensive clinical care. Autonomous institutions of the Department of Biotechnology viz.  Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad and National Institute of Biomedical Genomics (NIBMG), Kalyani are also providing genetic testing and counselling services for rare and genetic disorders.

10-Aug-2021: National Portal for Persons Living with Rare Diseases

The Department of Health and Family Welfare has launched a Digital Portal for Crowdfunding & Voluntary Donations for the treatment of patients of Rare Diseases in accordance with the mandate of the National Policy for Rare Diseases 2021. The Digital Portal may be accessed through https://rarediseases.nhp.gov.in/

The Department of Pharmaceuticals has initiated the implementation of Production Linked Incentive Scheme for Pharmaceuticals. The Scheme provides for financial incentives to manufacturers selected under the scheme for domestic manufacturing of various product categories, which also include Orphan drugs. The guidelines for the Scheme are available on the website of the Department of Pharmaceuticals under the tab ‘Schemes’.

23-Jul-2021: Rare Diseases Policy

National Policy for Rare Diseases, 2021 (the Policy) has been finalized and put in public domain.

The Policy can be accessed at website- https://main.mohfw.gov.in/documents/policy.        

The Policy aims at lowering the incidence and prevalence of rare diseases based on an integrated and comprehensive preventive strategy encompassing awareness generation, premarital, post-marital, pre-conception and post-conception screening and counselling programmes to prevent births of children with rare diseases, and within the constraints on resources and competing health care priorities, enable access to affordable health care to patients of rare diseases.

Initiatives for treatment support for patients of rare diseases under the Policy are as follows: -

  1. Financial support up to Rs. 20 lakhs under the Umbrella Scheme of Rashtriya Arogya Nidhi 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. 
  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).
  3. Keeping in view the resource constraints, and a compelling need to prioritize the available resources to get maximum health gains for the community/population, 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.
  4. Voluntary crowd-funding for treatment: Keeping in view the resource constraint and competing health priorities, it will be difficult for the Government to fully finance treatment of high-cost rare diseases. The gap can however be filled by creating a digital platform for bringing together notified hospitals where such patients are receiving treatment or come for treatment, on 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, diseases from which they are suffering, estimated cost of treatment and details of bank accounts for donation/ contribution through online system. Donors will be able to view the details of patients and donate funds to a particular hospital. This will enable donors from various sections of the society to donate funds, which will be utilized for treatment of patients suffering from rare diseases, especially those under Group 3. Conferences will be organized with corporate sector companies to motivate them to donate generously through digital platform. Ministry of Corporate Affairs will be requested to encourage PSUs and corporate houses to contribute as per the Companies Act as well as the provisions of the Companies (Corporate Social Responsibility Policy) Rules, 2014 (CSR Rules). Promoting health care including preventive health care is included in the list in the Schedule for CSR activities.

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

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 Yojana under Ayushman Bharat, suffering from specified rare diseases for their treatment at Government Hospitals or Institutes having super specialty facilities / Government tertiary hospitals is being provided under the Umbrella Scheme of Rashtriya Arogya Nidhi (RAN). The budget allocation for the current financial year 2021-2022 for rare diseases is Rupees 25 Crore.

National Policy for 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 diseases. It will be convened by Department of Health Research (DHR) with ICMR as a member.

6-Apr-2021: Clarification regarding National Policy for Rare Diseases 2021

This is with regard to the recently published news article in a newspaper stating that patients of rare diseases will get treatment under Ayushman Bharat scheme of the Government.  In this regard, it is to clarify that in the recently notified “National Policy for Rare Diseases 2021”, there is a provision for financial support upto Rs. 20 lakhs under the Umbrella Scheme of Rastriya Arogya Nidhi for treatment, of those rare diseases that require a one-time treatment (diseases listed under Group 1 in the rare disease policy). Beneficiaries for such financial assistance would not be limited to BPL families, but the benefit would be extended to about 40% of the population, who are eligible under Ayushman Bharat- Pradhan Mantri Jan Arogya Yojana (PMJAY). This financial support for treatment of rare diseases is proposed under the Umbrella Scheme of Rastriya Arogya Nidhi (RAN) and not under Ayushman Bharat PMJAY.

Besides, the Rare Diseases Policy also envisages a crowdfunding mechanism in which corporates and individuals will be encouraged to extend financial support through a robust IT platform for treatment of rare diseases. Funds so collected will be utilized by Centres of Excellence for treatment of all three categories of rare diseases as a first charge and the balance financial resources can also be used for research.

3-Apr-2021: Union Health Minister approves National Policy for Rare Diseases, 2021

Dr. Harsh Vardhan, Union Health & Family Welfare Minister approved the “National Policy for Rare Diseases 2021” on 30th March 2021. The policy document has been uploaded on the website of Ministry of Health & Family Welfare.  For quite some time different stake holders have been demanding for a comprehensive policy for prevention and management of rare diseases.

The field of rare diseases is very complex and heterogeneous and prevention, treatment and management of rare diseases has multiple challenges.   Early diagnosis of rare diseases is a major challenge owing to a variety of factors that include lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities etc.

There are also fundamental challenges in the research and development for the majority of rare diseases as relatively little is known about the pathophysiology or the natural history of these diseases particularly in the Indian context. Rare diseases are also difficult to research upon as the patients pool is very small and it often results in inadequate clinical experience. Availability and accessibility to medicines are also important to reduce morbidity and mortality associated with rare disease. Despite progress in recent years, there is a need to augment effective and safe treatment for rare diseases. The cost of treatment of rare diseases  is prohibitively expensive.  Various High Courts and the Supreme Court have also expressed concern about lack of a national policy for rare diseases.

To address all these challenges, a very comprehensive National Policy for Rare Diseases 2021 has been finalized by the Ministry of H&FW after multiple consultations with different stakeholders and experts in the area.  Draft Policy for Rare Diseases was put in public domain on 13th January 2020 on which comments/views were invited from all stakeholders, general public, organization and States and Union Territories.  All the comments received were examined in depth by an Expert Committee constituted by the Ministry.

The Rare Diseases Policy aims to lower the high cost of treatment for rare diseases with increased focus on indigenous research with the help of a National Consortium to be set up with Department of Health Research, Ministry of Health & Family Welfare as convenor.  Increased focus of research and development and local production of medicines will lower the cost of treatment for rare diseases. The policy also envisage creation of a national hospital based registry of rare diseases so that adequate data is available for definition of rare diseases and for research and development related to rare diseases within the country.

The Policy also focuses on early screening and prevention through primary and secondary health care infrastructure such as Health and Wellness Centres and District Early Intervention Centres (DEICs) and through counselling for the high-risk parents. Screening will also be supported by Nidan Kendras set up by Department of Biotechnology. Policy also aims to strengthen tertiary health care facilities for prevention and treatment of rare diseases through designating 8 health facilities as Centre of Excellence and these CoEs will also be provided one-time financial support of up to Rs 5 crores for upgradation of diagnostics facilities.                   

A provision for financial support up to Rs. 20 lakhs under the Umbrella Scheme of Rastriya Arogya Nidhi is proposed for treatment, of those rare diseases that require a one-time treatment (diseases listed under Group 1 in the rare disease policy). Beneficiaries for such financial assistance would not be limited to BPL families, but the benefit will be extended to about 40% of the population, who are eligible under Pradhan Mantri Jan Arogya Yojana. 

Besides, the Policy also envisages a crowd funding mechanism in which corporates and individuals will be encouraged to extend financial support through a robust IT platform for treatment of rare diseases. Funds so collected will be utilized by Centres of Excellence for treatment of all three categories of rare diseases as first charge and then the balance financial resources could also be used for research.

7-Feb-2020: National Policy on Rare Diseases 

A draft National Policy for Rare Diseases has been finalized and placed on the website of the Ministry of Health and Family Welfare with a view to elicit comments / views of the stakeholders, including the States/UTs and the general public by 15-02-2020. 

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 access to 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 from diseases considered rare globally, is lacking in India and accordingly provides that for the purpose of the policy the term rare diseases shall construe three group of disorders identified and categorised by experts based on their clinical experience. Considering the limited data available on rare diseases, and in the light of competing health priorities, the focus of the draft policy is on prevention of rare diseases as a priority for all the three groups of rare diseases identified by experts. 

List of identified rare diseases covered for treatment under the Umbrella Scheme of Rashtriya Arogya Nidhi

Group 1: Disorders amenable to one time curative treatment:

  1. Disorders amenable to treatment with Hematopoietic Stem Cell Transplantation (HSCT) –
    1. Such Lysosomal Storage Disorders (LSDs) for which Enzyme replacement Therapy (ERT) is presently not available and severe form of Mucopolysaccharidosis (MPS) type I within first 2 years of age.
    2. Adrenoleukodystrophy (early stages), before the onset of hard neurological signs.
    3. Immune deficiency disorders like Severe Combined Immunodeficiency (SCID), Chronic Granulomatous disease, Wiskot Aldrich Syndrome, etc.
    4. Osteopetrosis
    5. Fanconi Anemia
    6. Others if any to be decided on case to case basis by a technical committee.
  1. 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 Hepatocellular 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 Transplantation-
      1. Fabry’s disease
      2. Autosomal recessive Polycystic Kidney Disease (ARPKD),
      3. 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) 
    1. Phenylketonuria (PKU)
    2. Non-PKU hyperphenylalaninemia conditions
    3. Maple Syrup Urine Disease (MSUD)
    4. Tyrosinemia type 1 and 2
    5. Homocystinuria
    6. Urea Cycle Enzyme defects
    7. Glutaric Aciduria type 1 and 2
    8. Methyl Malonic Acidemia 
    9. Propionic Acidemia
    10. Isovaleric Acidemia
    11. Leucine sensitive hypoglycemia
    12. Galactosemia
    13. Glucose galactose malabsorption
    14. Severe Food protein allergy
  1. Disorders that are amenable to other forms of therapy (hormone/ specific drugs)
    1. NTBC for Tyrosinemia Type 1
    2. Osteogenesis Imperfecta – Bisphosphonates therapy
    3. Growth Hormone therapy for proven GH deficiency , Prader Willi Syndrome and Turner syndrome, others (to be decided on case to case basis by technical committee)
    4. Cystic Fibrosis- Pancreatic enzyme supplement
    5. Primary Immune deficiency disorders -Intravenous immunoglobulin therapy (IVIG) replacement e.g. X-linked agammaglobulinemia etc.
    6. Sodium Benzoate, arginine, ,citrulline ,phenylacetate (Urea Cycle disorders), carbaglu, Megavitamin therapy (Organic acidemias, mitochondrial disorders)
    7. Others - Hemin (Panhematin) for Acute intermittent Porphyria, High dose Hydroxocobalamin injections (30mg/ml formulation – not available in India and hence expensive if imported)
    8.  Others (if any) to be decided on case-to-case basis, by a technical committee.
  1. 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 [Mucopolysaccharidosis (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 Atrophy 
  7. MPS IVA
  8. MPS VI

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. Wolman Disease
  2. Hypophosphatasia
  3. Neuronal ceroid lipofuscinosis
  4. Cystic Fibrosis
  5. Duchenne Muscular Dystrophy.