Highlights: - In 2016, the High
Court of Delhi directed the Ministry of Health and Family Welfare to frame
a "national policy on treatment of rare diseases"
- This directive
was the result of 3 petitions in 2013 and 2016 from patients with Gaucher
and Pompe disease for providing free Enzyme Replacement Therapy (ERT)
- Unfortunately the
policy which evolved has turned out to be a narrow, skewed policy focusing
primarily on ERTs for Lysosomal Storage Disorders (LSDs)
- Such a policy
cannot claim to be under the overarching umbrella of "rare diseases" since
it primarily focuses only on one rare disease group
- A fair and just
policy needs to take into account all existing rare diseases in India and
scope for their treatment and possible cures
Rare diseases, as the
name implies, affect few people in any given population. These diseases have a
low prevalence and almost 80% are genetic in origin. Rare diseases also include
auto-immune disorders, rare infectious diseases and rare cancers. There are
approximately 7000 documented rare diseases.
Every country has its
own definition of
rare
disease. In the United States, the Orphan Drug Act of 1983 defines a
rare disease as affecting less than 200,000 people. In the European Union, a
rare disease is defined as affecting less than 1 in 2000. In India, there is no
definition as yet and the current rare disease policy does not attempt to put
in place any definition. This in itself is a glaring gap since it is essential
to define a rare disease in the first place. Given the patchy availability of
data on rare diseases in India, even a temporary, working definition would have
sufficed until robust epidemiological data is gathered.
‘The national rare disease policy, finalized and approved by the Government of India (GoI) in May 2017, needs to be challenged, and gaps addressed, if the policy has to stand in as a fair and just policy for all people with rare diseases in India.’
A
Narrow, Skewed Policy
According to the Indian
Organization of Rare Diseases, India has a population of nearly 100 million
people with rare diseases; yet the national policy has taken a skewed position
with all three government-appointed sub-committees solely focusing on ERTs for
the treatment of LSDs. The VK Paul Sub-Committee report, the IC Verma
Sub-Committee report and the DK Tempe Sub-Committee report have singularly
focused on LSDs treatment. It is odd that only ERT which is the treatment for
just one group of rare diseases should be the sole focus of a national umbrella
policy on rare diseases. Both the IC Verma and DK Tempe Sub-Committee report
have evaluated the costs of ERTs for a range of LSDs including Pompe, Gaucher,
Fabry's, MPS I, MPS II, MPS IV and MPS VI.
According to the Lysosomal Storage
Disorders Support Society (LSDSS), the frequency of LSDs in India is around 1
in 40,000. Let us compare this frequency with other rare diseases reported in
India:
- A case report in
the International Journal of Anatomy
and Research (Mandal, Mandal & Kundu, 2015) indicates that
Osteogenesis Imperfecta affects 1 in 20,000
- According to Indian Pediatrics, Duchenne
Muscular Dystrophy which is the most common form of all dystrophies
affects 1 in 3500 live male births
- The Indian Society for Primary Immune
Deficiency estimates the number of affected patients at almost 1
million patients in India based on the prevalence of 1 in 2000
- Singhal and
Advani (2015) estimate an approximate prevalence of 1.33 per 100,000 for
Multiple Sclerosis in India
- According to
Muthane (2008), the crude prevalence of Parkinson's disease in India
(epidemiological study in Kolkata) is around 45.8 in 100,000
- According to
Abdul Latheef (2010), the prevalence of Inborn Errors of Metabolism (IEM) is 1
in 2497 newborns. Indian Pediatrics reveals that 2.1 per 1000 are born
with congenital hypothyroidism
Given the above
epidemiological data on various other rare diseases burden in India, it is not
clear why the national rare disease policy has singled out only one group of
rare disorders to focus on instead of taking an inclusive, balanced approach.
Gray
Areas
Apart from its narrow
focus, the policy also throws up various gray areas which are of concern
including:
- Measures towards
identification, diagnosis and prevention of rare diseases
- Treatment and
care approach is completely missing. The policy needs to include the
support to be provided to rare disease communities including clinical
services, rehabilitation and palliative care
- The policy does
not say anything about creating specialist centers for rare diseases which
can draw on existing facilities in various hospitals across India
- There is no
mention of upgrading medical education and healthcare education to include
rare diseases
- The policy again
tilts only in one direction regarding drugs for rare diseases. The policy
only elucidates import issues of ERTs for LSDs whereas a range of rare
diseases require drugs which are imported
- No mention of
clinical research and upgraded clinical trials policy to waive aside the
regular route in clinical trials for rare diseases. Often people with rare
diseases cannot wait until a newer therapeutic has gone through the
regular route of phase 1, phase 2 and phase 3 clinical trials. In such
cases, faster access to clinical trials can save many a life. The policy
does not touch upon this aspect at all
Absence of Clear Cut
Orphan Drugs Policy
The policy does not
clearly outline an orphan drugs section which is critical towards creating
better access to drugs and devices for rare diseases. The 1983 US Orphan Drug
Act revolutionized the treatment of rare diseases by incentivizing the
production of drugs for such conditions. If drugs and devices for rare diseases
have to become cheaper, affordable and more accessible it is essential to
provide such incentives to local pharma and drug manufacturers. Indigenous
production of drugs and devices can save the lives of many patients who would
otherwise not be able to afford expensive treatment. Apart from drugs and
devices, dietary and nutritional supplements for rare diseases are also
required and local production will again boost accessibility.
Towards
a Balanced, Equitable and Fair Rare Diseases Policy
In order to truly serve
the rare diseases communities in India, the policy has to adopt a more
balanced, fair and inclusive approach to all rare diseases. Concentrating only
on one group of rare diseases indicates a lop-sided approach which will serve
only a few patients in the country. If the policy makers had truly adopted an
evidence-based approach and at least collected preliminary epidemiological data
on prevalence and incidence of documented rare diseases in India, the current
policy would not be so skewed and narrow.
It is necessary to
challenge this current policy and rethink the approach to include all existing,
documented rare diseases in India so that no patient group is left in the lurch
without adequate access to treatment and care.
The writer is thankful to Prof. Vijay Chandru, Chairman, Strand Life Sciences, Bangalore for his inputs on the policy gaps.
References:- What is a Rare Disease? - (http://www.rarediseaseday.org/article/what-is-a-rare-disease)
- FAQs About Rare Diseases - (https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases)
- Ministry of Health and Family Welfare (2017). National Policy for Treatment of Rare Diseases
- Lysosomal Storage Disorders Suppor Society - (http://www.lsdss.org/)
- Welcome to I-ORD - (http://www.i-ord.org/)
- About PIDs - (http://www.ispid.org.in/About.aspx)
- Brittle Bones, Unbreakable Spirit: Osteogenesis - (https://www.ijmhr.org/ijar.3.1/IJAR.2015.107.pdf)
- Multiple sclerosis in India: An overview - (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4604693/)
- A database for inborn errors of metabolism in the Indian state of Andhra Pradesh - (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957769/)
- Orphan Drug Act - Relevant Excerpts - (https://www.fda.gov/forindustry/developingproductsforrarediseasesconditions/howtoapplyfororphanproductdesignation/ucm364750.htm)
Source: Medindia
Advertisement