70 million Indians suffering from rare Diseases
Rare diseases, often referred to as orphan diseases, occur rarely and do not affect a large number of
people. However, there are around 350 million patients worldwide suffering from rare diseases,
and the majority of them are children. India has no standard definition for rare diseases as there is no comprehensive epidemiological data available,
but the estimates put the number at 70 million. In terms of treatment options available, there has been limited research in the field of rare disease drug development because they are not a public health priority. Moreover, due to lack of awareness and knowledge about rare diseases even among healthcare professionals, there is a lack of proper
referral of patients to qualified doctors.
According to a recent study published in the journal Intractable and Rare Diseases Research, 80 per cent of rare diseases are genetic and 35 per cent of deaths in patients with rare diseases occur in infants with less than one year.
New diseases are discovered each year and added to the databases such as Orphanet database maintained by the European Union. There is no universal definition of rare disease but the importance of having a consistent definition across each country is well acknowledged.
“Awareness, accessibility and affordability are key needs of patients suffering from rare disease and early
diagnosis is a critical challenge in the management of rare diseases. The cost of treatment for rare disorders is very high and a lifelong expense running into tens of lakhs of rupees each year. Most patients and their families find this an enormous economic burden. There exists an urgent need for clinical research to ensure better and more affordable medicines for rare diseases so we can provide sustainable care to patients. From a policy perspective, we need legislation that specifically targets budgetary support, access, innovation, and investment for rare disease treatment in India”, shares Prasanna Shirol, Founder Member, Organisation for Rare Disease India (ORDI).
Very recently, Dystrophy Annihilation Research Trust (DART), a parent run Ministry of Science and Technology, Government of India (Department of Scientific & industrial Research) certified research lab, had organized a 2-day conference in Bengaluru to create awareness on treatments and drug trials, and to facilitate research into alleviating the scourge of Muscular Dystrophy. DART is the first Research lab in India focusing on Duchenne Muscular Dystrophy (DMD). At the conference, the 180 delegates comprised of more than 50 patients and their families, researchers, clinicians and students. The affected ones were given a platform to share their views and also given an opportunity to question researchers, industry experts and even policy makers regarding their work in the field of rare diseases.
“Over the past decade huge strides and innovations made in technology has opened up a vast avenue of potential therapies and interventions for the management of Duchenne Muscular Dystrophy (DMD). But because it is termed as a rare disease, there is not much awareness of the same. India with its rapidly increasing population is touted to have more than one lakh boys suffering from DMD. DART has taken up on itself to be the nodal center for all information concerning DMD”, points out Ravdeep Singh Anand, President, DART.
Until sometime, policy makers and public health authorities had no or minimum awareness about these conditions. However, today, we can see a shift in public opinion, which has resulted in the execution of certain noteworthy actions. Ministry of Health & Family Welfare (MoH&FW) has finalized the National Policy for Treatment of Rare Diseases, with an allocation of Rs 100 crore. A realistic policy intervention is important to control the growing threat of rare diseases, but it is required for the states to be equally involved in implementing the action plan.
“Last year, the Indian Council of Medical Research (ICMR) has launched ‘The Indian Rare Disease Registry’ which is aimed towards addressing the unmet needs of patients with rare diseases and also helping the country develop data and information to support research & development and enhance innovation. The Registry is an organized system that uses observational study methods to collect uniform data to evaluate specified outcomes for a population defined by a particular disease, condition, or
exposure, and that serves a predetermined scientific, clinical, or policy purposes”, mentions Dr Soumya Swaminathan, Deputy Director General for Programmes, World Health Organisation (WHO).
Dr Vijay Chandru, Chairman, Strand Life Sciences, is currently spearheading a consortium of doctors, researchers and biotech companies that has drafted a Rare Disease and Orphan Drug Policy for the state of Karnataka. “Karnataka has always been a progressive state in the use of science and technology for development. The state stands out in bringing together stakeholders in academia, industry and government to address challenges and devise solutions for various societal issues. Karnataka is uniquely positioned to address the difficult challenges faced by citizens who suffered from various rare diseases – it is estimated that nearly 7.2 crore citizens of India fall in this category and Karnataka has its fair share of perhaps 30 to 40 lakh patients. A drafting committee was appointed to formulate a policy for the state on rare diseases and orphan drugs. The recommendations made in the draft policy is towards developing rare disease centres of excellence with high-quality expert care using the existing infrastructure of hospitals and research institutes like Indira Gandhi Institute of Child Health, NIMHANS, Centre for Human Genetics and Kasturba Medical College, Mangalore. The policy is undergoing some final edits before being taken up for discussion in the concerned secretariats”, shares Dr Ramesh Hariharan, Chief
Of the 7,000-odd rare diseases, only 500 have US FDA-approved drugs. The remaining have to be managed by physiotherapy, surgical intervention, or occupational therapy.
Several multinational companies offer treatment protocols in India but the cost is prohibitive.
N. Rajaram, Managing
Director, Sanofi India, explains,
“Given the low burden of rare diseases in the country, these patients are often invisible to the public health system.
They incur very high diagnostic and treatment costs and do not receive the guidance and support they need. Sanofi Genzyme, the specialty care global business unit of Sanofi, is committed to working with the community of patients, physicians and researchers to enable effective diagnosis, focused education and sustainable access to treatment. Through our charitable access programme, known as INCAP (INdia Charitable Access Program),
Sanofi Genzyme is currently providing free Enzyme Replacement Therapy to patients with Lysosomal Storage Disorders (LSDs) in India. INCAP has grown significantly since its inception in 1999 and is widely appreciated for its altruistic efforts to support the
LSD community by providing therapy to patients who lack sufficient financial resources to avail of these therapies. Today, over a hundred patients are benefitting from the enzyme replacement therapies being provided under INCAP, for rare diseases like Gaucher disease, Pompe disease, Fabry disease, and MPS I (Mucopolysaccharidoses) disease.”
“In India, drugs to treat rare diseases are largely procured by the government and dispensed at public hospitals. Currently, Shire sells 12 products in the form of injectables in India, including those treat blood disorder haemophilia. We have now applied to the Drug Controller General of India to introduce drugs to treat a category of genetic disorders known as lysosomal storage diseases. We have made an application to launch the drugs. The application is under review and as of yet, we do not know whether a clinical trial will be needed in India”, shares Vineet Singhal, Country Head, Shire.
Recently, Oraxion Therapeutics, Inc., a spinoff from Bengaluru based Aten Porus Lifesciences entered into an Option Agreement with a US-based Biopharmaceutical company, for licensing its lead asset ORX-301 for the treatment of NiemannP ick Type C disorder (NPC) and Focal Segmental Glomerulosclerosis (FSGS). “We have confirmed the therapeutic efficacy of our lead compound, ORX-301, in the relevant preclinical models of these diseases and now plan to transfer the asset to our partner for clinical development. We would also like to acknowledge the support from the Biotechnology Industry Research Association Council (BIRAC), an initiative of the Department of Biotechnology, Government of India, for initial grant support for our work”, shares Dr Aditya Kulkarni, Founder & Chief Scientific Officer, Oraxion Therapeutics, Inc.
Dr Vijay Chandru, adds, “I feel that a quick and cost-effective option for treatment of rare diseases is for Indian companies to develop biosimilars of existing drugs. Enzyme Replacement Therapies can be easily manufactured here. Innovator pharmaceutical companies should work out licensing agreements with Indian manufacturers”.
Due to the rare incidence of these diseases, drug-makers find innovation and development of drugs for them unprofitable. This holds true worldwide, but more so in India where the lion’s share of the healthcare and medical research budget goes towards more common diseases such as HIV, tuberculosis and cancer.