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The International Journal of the Royal Society of Thailand
Volume XI - 2019

The two most studied medication are eteplirsen (Mendell JR, et al. 2016) and
drisapersen Goemans NM, et al, 2016). Both of them showed promising short term
result. Dystrophin is partially expressed in the muscle biopsy. After a long term

follow up, the walking benefit persisted. For example, the patients who received
drisapersen can walk at the average distance of 453.5 meters within 6 minutes
with compared to non-ambulatory status in the non-treated group. Common
side effects are related to the injection site reaction and thrombocytopenia which
require long term follow up.

Therefore, US-FDA approved these drugs in DMD patients who had exon
51 mutation. This mutation is found in 13% of the cases. This novel therapy is a
revolution in the care of these patients, which was resulted from continuous
research and development in this field. In the near future, this treatment method
will be more popular and may be combined with other treatment modalities
and eventually improved the patient’s quality of life (Goyal N, et al, 2018,
Korinthenberg R., 2019, Harris R, 2019). Unfortunately, the treatment is limited
by its cost, approximately 300,000 US dollars per year (Harris R, 2019).

4. Epilepsy
Precision medicine is not only involved genetically based therapy, but also
new technologies or device which specifically designed for individual patients.
In epilepsy, there are many factors involved in breakthrough seizure, other than
medication. Conventionally, the treatment is aimed to prevent future seizure attack
by using antiepileptic drug. But neurologists should consider early referral for
surgery for refractory cases. Each breakthrough seizure may be unpredictable
and may result in a catastrophe. Current research is now focusing on predicting
seizure risk and seizure surveillance by wearable devices or implants.

The information about the long term epilepsy outcome is very important.
Even in simple cases, the risk of recurrent seizure is still high after drug
discontinuation. Individual risk assessment may help in making treatment decision
(Lamberink HJ et al., 2017). Intracranial implants or electrodes are often used for
epilepsy monitoring and collecting electroencephalographic information. The
analysis of this result can reveal the seizure tendency at the levels of day, month
and year. It may aid in adjusting the treatment strategies, based on the risk of

recurrence. The information will increase patient’s participation in the treatment
and avoid certain precipitating events (Baud MO et al., 2018).

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