What are the hurdles in treatment of rare diseases?
Majority of rare disorders are genetic. For most of them, specific treatment is not available. While treatment is available for some of the disorders, it is very expensive for other types. Research is underway for finding more therapeutic options. Most drugs for treatment are not manufactured in India. Pharmaceutical companies may not be interested in developing drugs because these are unlikely to generate sufficient returns on investment. Plus, early diagnosis is important as treatment may not be beneficial if it is initiated after complications develop. Though awareness and facilities to diagnose rare diseases in India have significantly improved, these need further strengthening. Many patients are diagnosed very late.
Are ‘orphan drugs’ manufactured in India? Why is the treatment so costly?
No, not to my information. Treatment is expensive as manufacturing includes extensive research, and cost of manufacturing is high. Very few companies are involved in manufacturing these drugs.
Are rare diseases treatable? How effective is the treatment?
Most are not treatable, but some of the disorders are amenable to treatment. Effectiveness of treatment depends on the specific disorder, age of initiation of therapy, severity of the disorder and presence or absence of complications. Early diagnosis and timely initiation of therapy is the key for the disorders for which treatment is available.
The disorders which are amenable to treatment can be divided as follows: Those amenable to one-time treatment: These treatment modalities include disorders which benefit with hematopoietic stem cell transplantation (HSCT), liver transplantation, renal transplantation etc. Facilities for these are available in India, both in government and the private sector. One time treatment cost varies and may be affordable by some families. It is important to note that resources for monetary support for these kind of modalities exist in India (Prime Minister’s Relief Fund, Delhi Arogya Nidhi etc..)
Requiring long term/lifelong therapy: The disorders requiring long term/lifelong therapy include lysosomal storage disorders (LSDs) requiring enzyme replacement therapy (ERT), inborn errors of metabolism requiring special dietary formulae or drugs (eg Nitisinone in Tyrosinemia), primary immune deficiency syndromes, cystic fibrosis etc. This group requires very well thought out policy guidelines without compromising patient benefits. The third group includes disorders for which only supportive therapies are available. Therapeutic modalities are under research.
Is there a need for a national policy addressing treatment of rare diseases?
In the present scenario, when India is in a transitional phase where the morbidity and mortality due to common disorders such as infections, malnutrition, etc are gradually decreasing and large number of patients are being diagnosed with rare diseases due to increasing awareness and availability of diagnostic facilities, there is an urgent need to formulate a government policy for ‘rare diseases’ — particularly treatment. More importantly, there is a need to address the issue of timely diagnosis and prevention. This will involve increasing awareness and creation of better diagnostic, counselling and prenatal diagnostic facilities.
Is there data on how many people have been affected by rare diseases in Delhi, or any related research work in this regard?
Global estimates suggest that there are approximately 7,000 rare diseases but prevalence data is not available for most. Although individually rare, collectively these disorders affect approximately 6-8 per cent of the world’s population. Based on these estimates, in India alone, millions of people may be suffering from RD but no population-based data is available. Research in the area is ongoing in various academic institutions, primarily to identify the mutation spectrum and clinical profile of patients with rare diseases.