NIRMA UNIVERSITY

INSTITUTE OF LAW

10TH SEMESTER, B.A., LL.B. (HONS.)

FOR THE ACADEMIC YEAR 2024 – 2025

Research Article

“ACCESS TO ORPHAN DRUGS: BENEFITS, ISSUES AND SOLUTIONS”

Prepared & Submitted By:

ADITI INSAA AND ASTITVA SHARMA

20BAL077 AND 20BAL089

INTRODUCTION

The expansion of pharmaceutical industries has decelerated in recent years due to several factors, including
patent expirations, competition from generics, depleted pipelines, and more rigorous regulatory standards.
Numerous blockbuster medications will forfeit their exclusivity in the coming five years. As a result, the
existing economic landscape, along with significant generic competition, has redirected the attention of
pharmaceutical firms from essential medications to a new business approach — niche busters, known as orphan
drugs. Orphan drugs can assist pharmaceutical companies in mitigating the effects of revenue decline resulting
from the patent expiration of blockbuster medications.1 The innovative business model for orphan drugs may
provide a comprehensive healthcare solution that allows pharmaceutical firms to explore new fields in
therapeutics, diagnosis, treatment, monitoring, and patient assistance. Government incentives for drug
development, along with backing from the FDA and EU Commission2 through special protocols, further
enhance support for companies creating orphan drugs.

The soaring expenses of drug development alongside strict regulations, combined with the minimal return on
investment, frequently dissuade pharmaceutical innovators from creating products for very small patient groups.
Diseases that are rare and affect small patient groups, which are often "orphaned" by the pharmaceutical sector
due to limited approved drug treatments, are referred to as "orphan diseases." An orphan drug is a medicinal
product that has been created specifically for the treatment of a rare medical condition, which is termed an
“orphan disease.” They can be described as medications that the pharmaceutical industry has not created due to
economic factors, yet they address public health requirements. In fact, the uses of a drug can also be seen as
“orphan” because a substance may be effective for a common disease yet may not have been created for another,
less common use. The healthcare system in India and worldwide has been overwhelmed by diseases and finding
methods to manage and control them. In these challenging situations, tackling legislative and regulatory issues
related to "Rare/Orphan Diseases" becomes very hard. "The principle of proportionality" contends that greater
focus and resources ought to be directed towards prevalent health issues impacting larger groups rather than
conditions that impact fewer individuals.

Due to elements like insufficient epidemiological data, a shortage of pertinent research, the unavailability or
inaccessibility of medications and therapies, and complicated tertiary management that includes long-term care
and rehabilitation, the rarer the condition, the more substantial the investment and resource distribution that is
necessary. The plain reasoning of fewer cases and occurrences, conversely, can never rationalize the
government focus on “Rare/Orphan Diseases”. The truth is that the pain or, even worse, the loss of a single
individual due to a “rare disease is a public health concern” and needs to be tackled. A Rare Disease lacks a
widely recognized definition. “The World Health Organization characterizes a Rare Disease as a lifelong
debilitating disease or disorder, occurring in 1 or fewer per 1000 individuals.”1 Conversely, various countries
maintain their own definitions tailored to their specific needs and in relation to their population, available
resources, and healthcare systems.

ORPHAN DRUG DEVELOPMENT IN INDIA

Rare diseases pose a health risk to the general population in India. The world of uncommon diseases is diverse,
complex, dynamic, and lacking in scientific and medical knowledge. There are more than 450 uncommon
diseases known to exist in India. Rare illnesses present a significant threat to public health systems both globally
and in India due to the following reasons: Epidemiological data collection is challenging, making it impossible
to estimate the costs and burden of disease; research and development are challenging; and prompt and accurate
diagnosis is challenging; the disease requires complicated tertiary level management that calls for long-term
care and rehabilitation, and it is expensive and incurable. Due to rising healthcare costs, uncommon diseases
place a significant financial burden on nations regardless of their size and population. The opportunity cost of
financing the treatment of rare diseases creates a macroeconomic allocation dilemma due to limited resources:
On the one hand, a comparatively smaller number of people will need a much greater amount of resources to
1
Chan, A. Y., Chan, V. K., Olsson, S., Fan, M., Jit, M., Gong, M., ... & Li, X. (2020). Access and unmet needs
of orphan drugs in 194 countries and 6 areas: a global policy review with content analysis. Value in
Health, 23(12), 1580-1591.
2
Sharma, A., Jacob, A., Tandon, M., & Kumar, D. (2010). Orphan drug: development trends and
strategies. Journal of Pharmacy and Bioallied Sciences, 2(4), 290-299.
address their health issues, while a far greater number of people's health issues can be treated with a relatively
lower amount of money. Like many other developing nations, India currently lacks both prevalence data and a
consensus definition of rare diseases. There are no statistics on the burden of
rare diseases or the morbidity and associated with them because there are no epidemiological data.

The disease requires complicated tertiary level management that calls for long-term care and rehabilitation, and
it is expensive and incurable. Due to rising healthcare costs, uncommon diseases place a significant financial
burden on nations regardless of their size and population. The opportunity cost of financing the treatment of rare
diseases creates a macroeconomic allocation dilemma due to limited resources: On the one hand, a
comparatively smaller number of people will need a much greater amount of resources to address their health
issues, while a far greater number of people's health issues can be treated with a relatively lower amount of
money. Like many other developing nations, India currently lacks both prevalence data and a consensus
definition of rare diseases. Statistics about the morbidity and burden of rare diseases are non-existent. As of
right now, tertiary care institutes in India have identified just 450 rare disorders. Some things must be done by
the initiative of Indian pharmacists and the government to pass legislation that would enhance the country's
healthcare system and offer assistance to the many people afflicted with uncommon illnesses and ailments.

ORPHAN MEDICATION: BENEFITS

ORPHAN MEDICATION: ISSUES

 Unavailability of treatment

Worldwide, there exist approximately 7,000 to 8,000 rare diseases recognized. Only a small number of
uncommon diseases have been documented in India, primarily individuals diagnosed at advanced medical
facilities. Consequently, there is scant data regarding the prevalence of uncommon diseases in India, which
complicates the estimation the expense of healthcare and create efficient solutions. Moreover, lacking sufficient
information regarding the occurrence of diseases, illnesses, and death rates, it is difficult to evaluate the
economic effects of rare diseases regarding health-care systems and society at large. The uncommon diseases
frequently cited in India comprise main immunodeficiency conditions, lysosomal accumulation disorders like
Gaucher’s disease, Pompe disease, cystic fibrosis, osteogenesis imperfecta, particular types of muscular
dystrophies, and spinal muscular atrophy while others are remains unexamined because of insufficient
awareness among medical professionals. Because of the limited number of patients impacted by orphan
conditions, clinical trials might be of lesser magnitude and could employ different research methods to show
efficacy. This represents an additional challenge encountered during clinical trials. India has regulations in place
for orphan drugs within its framework structure, including accelerated assessment and consent procedures, there
could be bureaucratic obstacles and delays in securing designations and approvals for orphan drugs.

Access to the availability of medications are essential for lowering the morbidity and mortality rates linked to
rare diseases. Most uncommon diseases still lack access to safe and efficient therapies, despite recent
improvements. Therefore, there might not be a therapeutic option for the rare disease even if an exact diagnosis
is made. Less than 5 percent of the 7000–8000 uncommon diseases have therapies. Over 95% of rare diseases
lack approved medicines, and less than 10% of patients receive treatment tailored to their situation. The
exorbitant cost of medications puts a tremendous demand on available resources.

 Prohibitive cost of treatment

Most medications are very expensive, therefore the government hasn't been able to give them away for free. For
a child weighing 10 kg, the annual cost of treating certain rare illnesses can range from 10 lakhs to over 1 crore,
with the price and dosage of the medications rising with age and weight. To address the problem of high
expenses, nations have employed a range of tactics suited to their unique situations.An orphan drug is a
pharmaceutical product developed to treat uncommon or orphan diseases.
because they are so rare and without government assistance, production would not be profitable. A few reasons
determine this classification. A rare disease: While each country has a slightly different definition of "rare
diseases," the basic concept—that there are comparatively few patients—remains the same.
SOLUTIONS FOR ACCESS TO ORPHAN DRUGS

The Central Government would offer up to Rs. 20 lakhs in financial aid under the Rashtriya Arogaya Nidhi
Umbrella Scheme for the treatment of uncommon diseases (diseases specified under Group 1) that only need
one medicine. About 40% of the general population who fulfill the 23 eligibility requirements of the Pradhan
Mantri Jan Arogya Yojana would also be eligible for treatment solely at government tertiary institutions, in
addition to BPL households. State governments should consider offering financial support to people with rare
disorders that can be cured with hormone supplements, special diets, or other affordable treatments. By creating
a digital platform that allows voluntary individual and corporate donors to support the treatment costs of patients
with rare diseases, the government will try to create an alternate source of funding. This is carried out while
keeping in mind the urgent need to prioritize the available resources and resource limits in order to optimize the
health benefits for the community and its residents.

CONCLUSION

The updated policy reform provides financial support of fifty lakhs to individuals with rare diseases for
treatment solely at the Centres of Excellence (CoEs) specified in the NPRD 2021. Regions like Kerala lack
hospitals that have been designated as Centers of Excellence. As a result, a majority of patients affected by rare
diseases in these states cannot take advantage of the Scheme's benefits since it is nearly unfeasible for them to
travel to nearby states for treatment at the CoE, thus preventing them from accessing the Scheme's advantages.
Therefore, Centres of Excellence should be founded in every State to guarantee the effective execution of the
Scheme. In the past few years, 96 percent of the Rashtriya Arogya Nidhi's budget for addressing Group 1
Disorders has remained unspent. This clearly demonstrates the absence of effective execution in treating these
patients. Many patients have already lost their lives due to insufficient institutional funding, and numerous
others are in jeopardy.

Without a clear definition of rare diseases and their characteristics, developing an effective policy and
successfully implementing it will be challenging. Utilizing undefined terms causes ambiguity and
inconsistencies, impacting both treatment access and research and development. Therefore, we must assign
more resources and staff to the National Registry for Rare Diseases to hasten the gathering of epidemiological
data. This would help us establish an accurate definition and other relevant specifications in our nation. Timely
and precise diagnosis would not only lower long-term costs for both the individual and the government but also
could save lives. Therefore, it is crucial to boost the distribution of funds and redirect them towards relevant
infrastructure and equipment to ensure they are promptly available and easily reachable in our hospitals and
clinics.
Plagiarised part

LEGISLATIVE DEVELOPMENTS

Realizing the dire need of the situation, the government in recent years has addressed the issue of Rare Diseases
in India. The first initiative began with the National Health Policy 20173 which dealt with the management of
Rare Diseases to resolve the deficiencies in public service through a public-private partnership. 4 Thereafter, the
National Policy for the Treatment of Rare Diseases (NPTRD)5 was drafted in July 2017 which then was
subsequently reviewed by an Expert Committee in 2018 owing to implementation issues, among other things 6.

In March 2021, the Delhi High Court in the case of Master Arnesh Shaw vs UOI7, directed the Centre to set up
a “Rare Diseases Committee, a Rare Diseases Fund and to finalize and notify the National Health Policy for
Rare Diseases” on or before 31st March 2021. Pursuant to this directive, the Ministry of Health and Family
Welfare approved8 a comprehensive “National Policy for Rare Diseases 2021”.9 Additionally, “the Indian
Council of Medical Research (ICMR) launched a hospital-based “National Registry for Rare Diseases”,
incorporating facilities around the country that specialize in the detection and treatment of rare diseases 10.

Under “the New Drugs and Clinical Trial Rules 2019”11, Orphan Drugs have been defined as a “drug intended
to treat a condition which affects not more than five lakh (500,000) persons in India”. 12The regulatory
framework for an Orphan Drug clinical trial is identical to that of other drugs, with the exemptions provided to
Orphan Drugs:

 India's highest drug regulatory organization, “the Central Drugs Control Standards Organization
(CDSCO)”, can waive the necessity of performing local clinical trials in cases of Orphan drugs. 13

 The sponsor of a clinical trial for an orphan drug might urge the CDSCO to speed up the approval
procedure for that drug.14

 A clinical trial of an Orphan Drug does not need payment of an application fee. 15

THE NATIONAL RARE DISEASE POLICY 2021

The Ministry of Health and Family Welfare approved the “National Rare Disease Policy 2021” 16 with an aim:17

 The policy intends to enhance emphasis on indigenous research and local manufacture of medications,
as well as lowering the costs of treating rare diseases.

 Those suffering from rare diseases (diseases specified in Group 1 of the rare disease policy) who
require one-time treatment would be eligible for “financial assistance of up to Rs20 lakh under the
Rashtriya Arogya Nidhi umbrella plan”18. It will cover “around 40% of those who are qualified
under the Pradhan Mantri Jan Arogya Yojana”19.

 To finance the expense of treating uncommon diseases, the policy will employ a crowdfunding system.
Corporates and individuals would be encouraged to contribute financially through a comprehensive IT
platform.

 A national hospital-based registry for rare diseases will be developed to ensure that researchers and
developers have access to enough data and thorough information about such ailments.

 The strategy intends to test and discover rare disorders at an early stage, which will aid in their
prevention, with the support of Health and Wellness Centres, District Early Intervention Centres, and
counselling.

LATEST DEVELOPMENTS

THE UNION HEALTH MINISTRY ISSUED AN OFFICE MEMORANDUM ON MAY 19 2022

INCREASING THE FINANCIAL AID TO THE PATIENTS SUFFERING FROM RARE DISEASES
UNDER “THE NATIONAL POLICY OF RARE DISEASES, 2021 FROM RS 20 LAKHS TO RS 50
LAKHS UNDER THE UMBRELLA SCHEME OF RASHTRIYA AROGYA NIDHI (RAN).”20 THE
EARLIER GRANT OF TWENTY LAKHS WAS LIMITED TO ONLY A FEW CONDITIONS IN
GROUP 1 BUT THE NEW GRANT CAN BE AVAILED FOR ALL RARE DISEASES, INCLUDING
LUNG TRANSPLANTS. SUCH AN INITIATIVE COMES AS A RELIEF TO PATIENTS SUFFERING
FROM RARE DISEASES AND WILL SUBSTANTIALLY RAISE ACCESS TO TREATMENT FOR
THOUSANDS AND THOUSANDS OF PATIENTS WITH RARE DISEASES IN INDIA. THE HIKE IN
THE GRANT ALSO COMES AS A MAJOR BOON TO THE STRESSED FAMILIES OF PATIENTS
SUFFERING FROM RARE DISEASES IN INDIA

Many rare disease drugs are unavailable in India, and even if they are, they have been "exorbitantly expensive,
putting enormous strain on resources." Only a few drugs for rare disorders are manufactured in India, thus all of
these drugs are eventually imported. The majority of orphan drugs are palliative rather than curative, and they
need to be given on a regular basis. Some people with rare diseases may require lifetime treatments that are
either unavailable or prohibitively expensive in India. Hence, reform in the policy is a blessing not just for
patients, but also for pharmaceutical companies seeking to launch rare drug treatments or therapies in India. The
pharmaceutical firms can now launch advanced therapies for rare diseases within and for India.

INDIA'S REGULATORY FRAMEWORK FOR ORPHAN MEDICATIONS

The National Policy for Rare Diseases 2021 and

revisions approved by India’s Central Drugs Standard

Control Organization (CDSCO) in 2019 signifies important

advancements in the management and care of orphan

illnesses in India. For the first time, India possesses a clear definition.

of orphan medications as per the CDSCO’s New pharmaceuticals and

Regulations for Clinical Trials in 2019.[10] Orphan medications are categorized

currently as medications utilized to address ailments that impact less than

500,000 individuals in India. This standard aligns with

global benchmarks and assists in recognizing medications

crafted to address uncommon conditions. Indian officials currently possess

the authority to omit orphan drugs from phases III and IV

clinical research, based on the updated regulations for

clinical studies. In recognition of a major unfulfilled

healthcare requirement, producers or backers of rare disease medications

might request an accelerated review from India’s CDSCO

process, thus removing the need for local

clinical studies.[11]