The document is a presentation on India's National Policy for Rare Diseases by Dr. Kriti Singh. It discusses rare diseases affecting less than 1 in 1000 people. It outlines challenges like lack of treatment availability and high costs. The policy aims to establish centers of excellence, create a national rare disease registry, provide financial assistance up to $20k, and encourage local drug manufacturing. Overall the policy strives to improve research, awareness, screening and care coordination for rare disease patients in India.

1. National Policy
for Rare
Diseases
Presenter :
Dr Kriti Singh
Assistant Professor
Department of Community Medicine
Government Institute of Medical Sciences
9/12/2023 1

2. Presentation Outline
1. Background
2. Understanding Rare Diseases
3. Defining Rare Diseases
4. Challenges in Treatment
5. Challenges in Research and Development
6. Experience from Other Countries
7. The Indian Scenario
8. Status of Implementation of Policy
9. Key Features of the Policy
10. Prevention at Different Levels
11. Implementation Strategy
Total no. of Slides 24
9/12/2023 2

3. Background
2017
The Ministry of Health and Family Welfare,
Government of India, introduced the
National Policy for Treatment of Rare
Diseases (NPTRD) in July 2017.
2018
An Expert Committee was constituted by
the Ministry of Health and Family Welfare in
November 2018 to review the NPTRD,
2017.
2020
The draft of the new National Policy for
Rare Diseases was finalized. It was made
available to the public on January 13, 2020
2021
Submitted to Expert committee to examine
suggestions, comments and was finalized as
National Policy for Rare Diseases, 2021
9/12/2023 3

4. Understanding Rare
Diseases:
Defining rare diseases can be
challenging due to the various
definitions across countries.
WHO defines rare disease as often
debilitating lifelong disease or
disorder with a prevalence of 1 or
less, per 1000 population.
• Global Perspective: Understanding the regional variations in
rare disease prevalence.
• Defining "Rareness“: Establishing rarity thresholds can
ensure the standardization of the definition of rare diseases.
Table 1: Definitions of Rare Diseases in different countries
S No. Country
Prevalence less than per 10,000
population
1 USA 6.4
2 Europe 5.0
3 Canada 5.0
4 Japan 4.0
5 South Korea 4.0
6 Australia 1.0
7 Taiwan 1.0
Source: The I.C. Verma Sub-Committee Report ‘Guidelines for Therapy and Management’
9/12/2023 4

5. Defining the Rare Diseases
• Group 1: Disorders amendable to one-time curative
treatment by hematopoietic stem cell
transplantation or organ transplantation
• Group 2 : Diseases requiring long term/ lifelong
treatment having relatively lower cost of treatment ,
annual or more frequent surveillance is required.-
congenital enzyme 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.- Gaucher disease, Fabrey disease, cystic
fibrosis, mucopolysacharidosis,Duchene Muscular
Dystrophy etc.
9/12/2023 5

6. Challenges in Treatment:
Unavailability of Treatment :
• There are between 7000 - 8000 rare
diseases, but less than 5% have
therapies available to treat them.
• About 95% of rare diseases have no
approved treatment and less than 1 in
10 patients receive disease-specific
treatment.
• Where drugs are available, they are
prohibitively expensive, placing
immense strain on resources.
9/12/2023 6

7. Prohibitive Cost of Treatment:
• Rare diseases are also called ‘orphan diseases’ as
the number of persons suffering from individual
rare diseases is small, and the drugs to treat them
are called “orphan drugs”.
• At present, very few pharmaceutical companies are
manufacturing drugs for rare diseases globally.
• No domestic manufacturers in India except for
Food for Special Medical Purposes(FSMP) for
small molecule inborn errors of metabolism.
• Due to the high cost of most therapies, the
government has not been able to provide these for
free.
9/12/2023 7

8. Challenges in Research and
Development:
Although research and development have led to
progress in various rare diseases, there is still much
to be done.
The patient pool for some rare diseases is small and
often leads to inadequate clinical experience.
Lack of Research
Funding:Research
funding is limited
owing to the small
number of patients
suffering from rare
diseases.
Unique Clinical
Experience:Obtaini
ng unique clinical
experience is
challenging due to
the relatively small
number of patients
that suffer from
each rare disease.
Study Design
Challenges:There is
a need to review
clinical trial norms
keeping in mind the
particular challenges
in rare diseases.
Patient Groups
and Families:
Collaborating with
patient groups and
families dealing
with these disorders
can provide better
patient management
and care.
9/12/2023 8

9. Experience from Other Countries
• United States
Orphan Drugs Act incentivizes drug development for rare diseases
through market exclusivity, grants to researchers, and tax incentives on
expenditures incurred during drug evaluation. Critics argue that
pharmaceutical companies are taking advantage of this act.
• Europe and United Kingdom
The European Joint Programme on Rare Disease focuses on research.The
National Health Service(NHS) England, offers funding to National Institute
for Health and Care Excellence(NICE)publication with pharmaceutical
companies.
• Singapore
The Rare Disease Fund in Singapore, through special authorization,
provides funding for five medicines to treat three rare disease conditions.
9/12/2023 9

10. The Indian Scenario
• India has no official data on the prevalence of rare
diseases, which creates a barrier in understanding the
gravity of this issue.
• A hospital based National Registry for Rare Diseases
has been initiated by ICMR involving centers across the
country involved in diagnosis and management of Rare
Diseases.
• The commonly reported diseases include Primary
immunodeficiency disorders, Lysosomal storage
disorders (Gaucher’s disease, Mucopolysaccharidoses,
Pompe disease, Fabry disease etc.) small molecule
inborn errors of metabolism (Maple Syrup urine
disease, organic acidemias etc.), Cystic Fibrosis,
osteogenesis imperfecta, certain forms of muscular
dystrophies and spinal muscular atrophy, respectively.
9/12/2023 10

11. Key Features of the Policy
1.Comprehensive Coverage:The
policy covers all aspects of
prevention, diagnosis, and
treatment of rare diseases,
addressing gaps and challenges in
the earlier policy.
2. Inclusive and Participatory
Approach:The policy furthers an
inclusive and participatory
approach by engaging state
governments, experts, and
stakeholders to create a robust
framework for rare disease
management
3.Open and Transparent:The
policy follows an open and
transparent process of
formulating the policy, obtaining
feedback, and incorporating the
same into the final document.
9/12/2023 11

12. Prevention at Different Levels
1. Primary Prevention: To prevent the occurrence of the
disease, a couple at risk based on disease in a previous sib or
family history of that disorder can be identified with a simple
checklist.
2. Secondary Prevention: Focusing on avoiding the birth of
affected fetuses and early detection of disorders, prenatal
screening and diagnosis can identify high-risk mothers for
having an affected fetus with a rare disease. Newborn screening
is also available, which prevents morbidity and mortality.
3. Tertiary Prevention: This refers to providing better care
and medical rehabilitation to rare disease patients who
present an advanced stage of the disease.
9/12/2023 12

13. Implementation Strategy for
Rare Disease Management
1, Hospital-based National Registry: A
national database of various rare diseases will be
created under the ICMR with a hospital-based
National Registry for Rare Diseases.
2. Targeted Preventive Strategy: The Central
Government will encourage and support State
Governments to implement a targeted preventive
strategy
3. Notified Centres of Excellence: Selected
Centres of Excellence at premier government
hospitals will be notified for the comprehensive
management of rare diseases and provided grant
for infrastructure development for screening,
tests, and treatment, if necessary.
9/12/2023 13

14. Centres of Excellence (COE)
The Centres of Excellence would develop Standard Operating
Protocols to be used at various levels of care for patients with rare
diseases to improve early diagnosis, better care coordination
and quality of life.
• The following institutes would be notified as Centers of
Excellence for Rare Diseases:
a) All India Institute of Medical Sciences, New Delhi
b) Maulana Azad Medical College, New Delhi
c) Sanjay Gandhi Post Graduate Institute of Medical Sciences,
Lucknow
d) Post Graduate Institute of Medical Education and Research,
Chandigarh
e) Centre for DNA Fingerprinting & Diagnostics with
Nizam’s Institute of MedicalSciences, Hyderabad
f) Seth GS Medical Hospital, Mumbai
g) Institute of Post-Graduate Medical Education and Research,
Kolkata
h) Center for Human Genetics (CHG) with Indira Gandhi
Hospital, Bengaluru
9/12/2023 14

15. The responsibilities and activities of the COEs:
Education & Training at all levels
Screening – Antenatal, neonatal (specified disorders), High
risk screening (Both antenatal & in newborns and children)
Diagnostics- Cytogenetic, molecular, Metabolic
Prevention by prenatal screening &diagnosis
Research in the area of low cost diagnostics &
therapeutics.
Treatment of rare diseases.
9/12/2023 15

16. Nidan Kendras
• 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.
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
9/12/2023 16

17. Aspirational districts covered under the Programme
Name of the Mentor Institute Aspirational District State
LHMC, New Delhi Mewat Haryana
CDFD, Hyderabad Yadgir Karanataka
AIIMS, New Delhi Haridwar Uttarakhand
CMC, Vellore Washim Maharashtra
MAMC, New Delhi Ranchi / Bokaro Jharkhand
SGPGIMS, Lucknow Shrawasti Uttar Pradesh
NIIH (KEM hospital campus), Mumbai Nandurbar Maharashtra
9/12/2023 17

18. Rare Disease Treatment: Financial
Support
• Umbrella Scheme of Rashtriya Arogaya
Nidhi:The Central Government provides financial
assistance up to Rs. 20 lakh to patients with rare
diseases that require a one-time treatment.
• Gap Funding: A digital platform for voluntary
donors to contribute funds to support treatment
costs of patients with high-cost rare diseases.
• State Government Support: State governments
are urged to support patients with rare diseases that
can be managed with special diets or hormonal
supplements.
9/12/2023 18

19. To fill the gap the digital platform for individual, corporate and other donors has been
created by the Government to facilitate voluntary donations for the treatment of patients
with rare disease.
9/12/2023 19

20. Manpower Development for Rare
Disease Management
Department of Medical Genetics : State governments will create a
department of medical genetics in at least one medical college for
education and awareness among healthcare professionals.
Nidan Kendras : The services of Nidan Kendras will be utilized for
training medical practitioners and staff for screening rare diseases.
Consortium of Centres of Excellence : A consortium of Centres of
Excellence will be created to synchronize and coordinate prevention
and treatment efforts for rare diseases.
9/12/2023 20

21. Increasing Affordability of
Rare Disease Drugs
• Research and Development : The
government will promote research and
development in the field of rare diseases for
the diagnosis and treatment of patients.
• Local Manufacturing of Drugs : The
government will encourage PSUs to
manufacture drugs for rare diseases and
promote an enabling environment for
affordable local development and
manufacturing.
• Reduction in Custom Duties : The Ministry
of Finance will be requested for a reduction
in custom duties on import of medicines
related to rare diseases.
9/12/2023 21

22. Conclusion
and Way
Forward
• Mutual Efforts
• The National Health Policy for Rare Diseases
2021 brings health and hope to those with
rare disease conditions in India.
• Rising Together
• The combined efforts of biomedical research,
healthcare professionals, and governmental
organizations will undoubtedly make the
road ahead for the rare disease community
easier.
9/12/2023 22

23. THANK YOU
9/12/2023 23