With a sizeable number of the 13,000-plus infant deaths per year in Karnataka being attributed to rare diseases, patient-support groups are demanding the implementation of the proposed Orphan Drugs Act on the lines of the US model.
The Organisation for Rare Diseases India (ORDI), a non-profit organisation, has been advocating the need for the act to be implemented for the past one year. The organisation demands a two-tier system in the act – one that supports pharmaceutical companies and the other that supports the patients.
The diseases that are rare and affect only a small percentage of the population are known as rare diseases or orphan diseases. The medicines to cure these diseases are known as orphan drugs. Around 80% of these diseases are related to genetics.
As the population affected by rare diseases is very small, and a lot of money being involved in the research for diagnosis of these diseases and inventions of orphan drugs, there is a lack of motivation among the pharmaceutical companies.
ORDI feels there is a need for treatment, supportive care, and financial support, global access to experts and advanced labs for early stage diagnosis.
Dr Shantaram Baliga, president of National Neonatology Forum, Karnataka, says, “Every year 13,000 infants die before their first
birthday. Around 8,700 die even before completing one month, and 60% of these infants die within three to four days of being born. A large number of these deaths can be attributed to rare diseases. If we are able to diagnose the rare disease at an early stage and are able to treat it, a lot of lives can be saved.”
ORDI wants the government to provide incentives to pharmaceutical companies to develop diagnostic methods and drugs to tackle rare diseases. They are seeking incentives for companies developing orphan drugs, besides tax exemptions and financial funding from the government. A separate policy for people suffering from rare diseases, on the lines of that for the handicapped or the HIV patients, is also being demanded.
The Orphan Drug Act was enacted in US in the year 1983. “After the act was implemented in the US the market saw 400 new products for treating these diseases come up. While importing these products there is huge import tax charged. It is important that the drugs be made affordable in India. I think incentives to pharmaceutical companies will encourage finding affordable cures,” Dr Meenakshi Bhat, consultant in Clinical Genetics and professor, Centre for Human Genetics, said.
Prasanna Kumar Shirol, founder, ORDI, says “My daughter Nidhi is suffering from Pompe. She was diagnosed with the rare disease in 2007. She is currently undergoing treatment called Enzyme Replacement Therapy (ERT). It costs around Rs 1.25 crore per year and has to be continued lifelong. This treatment stops further deterioration of the body and does not reverse the damage already done to the body.”
In Karnataka, rare diseases like Pompe (a disease caused by built up complex sugar in body cells), Gaucher’s Disease (in which fatty substances accumulate in certain cells or organs) and Phenylketonuria (PKU) (a condition generating an amino acid called phenylalanine to build up in the body) are common among the rare diseases.
Prasanna says if the disease was diagnosed earlier and the patient given treatment on time, Nidhi – or any other patient – would have lived a normal life.
Nidhi’s treatment is funded by a company under charitable access program. Nidhi is now 15- years-old and has been on ventilator at home for the last 7 years. “(But) Companies cannot fund all such patients. There are many patients waiting for support from the government and are suffering and dying as time passes.” Although 12,000+ patients in Karnataka suffer from rare diseases, according to Centre for Human Genetics, doctors feel the actual number is much higher with many cases not registered/ diagnosed due to lack of awareness.
Dr Shantaraman, said, “It is obvious that a drug that can cure a rare disease will be costly but that does not mean we let patients die. The government should make affordable medicines available. But affordability would not make sense if availability is difficult. Also there is a need for highly specialized doctors to diagnose and treat rare disease. This again should be made available and affordable.”
Prasanna, said, “The US Act is quite comprehensive, India can follow the same Act after a few modifications. The modifications should be on the basis of the size of the population and the fact that there are no health schemes existing for the patients right now.” Countries like US, Japan, Singapore, South Korea, Canada and New Zealand already have acts pertaining to orphan drugs.
Prasanna adds, “None of the existing government schemes mention rare disease. The needs of these patients are completely different hence there should be a different set of schemes for them. Immediate action is the most important and hence a separate department can avoid delays.”