Doctor highlights need for patient registry for rare diseases

Bengaluru: While attending the 2nd international conference on ALS/MND (Amyotrophic lateral sclerosis/Motor neuron disease), Dr Harsha Rajasimha stressed the need for a patient registry for ALS and other rare diseases in India.

Dr Harsha is the founder and executive chairman of the Indo-US Organization for Rare Diseases. With 195 clinical trials for ALS underway, an ALS registry in India will be a game changer for patients.

Dr Rajasimha was speaking at the 2nd international conference on ALS/MND (amyotrophic lateral sclerosis/motor neuron disease), held at the National Institute of Mental Health and Neurosciences (NIMHANS). Motor neurons deteriorate and die in a variety of severe, quickly developing degenerative disorders known as MND. MND causes the motor system to lose function, and ALS is a prevalent form of MND.

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The conference was an attempt to spread awareness about the prevalence of ALS and MND. Dr Gustavo Zubieta, head, High Altitude Pulmonary and Pathology Institute, La Paz, Boliva, shared thoughts on whether exposure to hypoxia and chronic hypoxia would be beneficial in MND, while Dr Dame Pamela Shaw, professor of neurology at the University of Sheffield, UK, talked about the recent progress on the field of MND and its therapeutics, reports the Times of India. 

“Patient registries are the foundation for understanding the disease and its progression. They can also help enroll patients for clinical trials,” he said. A patient registry is “an organised system to collect uniform information with a defined purpose from a target population”. This information includes a patient's family background of patients, their medical history, contact information, etc.

Dr Rajasimha stated that though there are over 2,000 clinical trials in rare diseases going on globally, very few are in India. “ It is very disheartening for a patient to know that there is a treatment somewhere else but they don’t have access to it, depending on where they are living," he added. 

The conference was held jointly by NIMHANS and Dr Shyama Narang Foundation. Vasanth Rao UA, founder-trustee of the foundation, said: “It takes a long time to diagnose MND. By the time it is diagnosed, the damage could have been done. So it is important for people with such diseases to get themselves checked.”

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