Sunday, 1 January 2017

Rare diseases and rare drugs

Rare diseases and rare drugs

Dr K K Aggarwal, National President IMA

1. “Spinal Muscular Atrophy (SMA)” is a rare genetic disease.
2. In India, there are families whose children are suffering from this progressive disease.
 3. Due to SMA, children cannot walk, and, the nightmare does not end here as it is a progressive degenerative disease which means the kids may potentially see deterioration in function of their other limbs - hands, spines and even lungs.
4. Limited data suggest that survival has increased in patients with SMA type 1 born from 1995 through 2006 compared with those born from 1980 to 1994
5. Ventilation for >16 hours a day, use of mechanical insufflation-exsufflation device, and gastrostomy tube feeding were significantly and independently associated with prolonged survival, while year of birth was not. Thus, longer survival in the later time period appears to be related to more aggressive care.
6. Treatments that enhance the level of SMN protein may be available in the future
7. Gene therapy using an adeno-associated virus vector to augment spinal cord SMN expression has shown promise in a mouse model of SMA
8. Another promising approach involves intracerebroventricular or systemic injection of antisense oligonucleotides that effectively restore SMN expression
9. Drugs that selectively modify the splicing of the survival motor neuron gene 2 (SMN2) messenger RNA also have a potential therapeutic role
10. There is a FDA approved drug viz. “Nusinersen” under development
11. The Drug has shown promising results after under going clinical trials.
12. Bogen (the company which has developed this drug)
13. The drug is not yet launched in India
14. Estimated cost >$100,000 per year
15. No Health Insurance Company in India covers such kind of disease or costs

Once introduced how to make such drugs affordable in India.

Should CRS, insurance companies and government subsidy under one roof be the answer for such diseases and drugs?

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