#apaperaday: Patient’s perspective about research landscape for rare diseases in India

In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: Patient’s perspective about research landscape for rare diseases in India

Today’s pick is a patient perspective from a father of a son with Duchenne in India in Journal of Bioscience. https://ias.ac.in/article/fulltext/jbsc/049//0025

Duchenne is a genetic progressive muscle wasting disease. The father explains in India finding a genetic confirmation of the diagnosis was hard. Testing facilities exist in large cities, but not in the smaller cities and rural areas. Many patients never have a proper diagnosis.

Note that without a diagnosis, counseling cannot start and also proper care and management cannot start. Many rare disease patients do no have a diagnosis. The father also outlines that so far record keeping is not done systematically in India.

This means there is no data on prevalence of rare diseases and natural history studies are lacking. Note that natural history studies for Duchenne focus on Western populations. It is possible that the trajectories in other races are different. We need to collect this information.

This is not only the case for Duchenne, but also other rare diseases. The father explains that patient organisations (e.g. @dartindia7) now have started to work with clinicians to capture data. However, ideally, this is coordinated by the government, with patient involvement.

The father outlines that in the Western world there is a drug development process that seems to work well. However, there is no access to these drugs in India. Ideally also a rare disease drug development ecosystem should be built in India.

The father urges for fast-tracking N-of-1 approaches. Here I would call for caution. N-of-1 approaches may work, but they work on the premise of an effective therapeutic approach that works for a larger group. For Duchenne sadly, we are not there yet with genetic treatments.

While we have approved drugs, these are approved only on restoring dystrophin. We do not know yet whether these approaches will slow down disease progression. So personally I think it is too early for N-of-1 treatments in Duchenne.

The father urges for the need of multistakeholder collaborations and dialogues and also more active involvement of the government to sponsor drug development as it is expensive. He outlines that India has the technological researchers and the scientists, but needs an ecosystem.