Current mutation-targeted DMD treatments and their theoretical application in a sub-group of Albanian patients

  • Aferdita Tako Kumaraku Child Neurologist, Mother Teresa University Hospital Centre, Tirana, Albania
  • Aida Bushati Child Neurologist, Mother Teresa University Hospital Centre, Tirana, Albania
  • Armand Shehu Child Neurologist, Mother Teresa University Hospital Centre, Tirana, Albania
  • Renald Meçani Child Neurologist, Mother Teresa University Hospital Centre, Tirana, Albania
  • Paskal Cullufi Child Neurologist, Mother Teresa University Hospital Centre, Tirana, Albania
Keywords: Duchenne muscular dystrophy, genetic diagnosis, DMD

Abstract

Although the molecular origins of Duchenne muscular dystrophy have been known for several years, there is still no curative treatment for the disease. Exon skipping is a mutation-specific approach; which exon to skip depends on the size and location of the mutation. As such, having a genetic diagnosis of the disease is important. The genetic diagnosis mentioned in this paper was made privately in a sub-group of DMD patients from our clinic. Nine out of fourteen patients (64%) have mutations that are targeted by therapies that are currently licensed or undergoing Phase III trials.

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CITATION
DOI: 10.26838/MEDRECH.2022.9.2.589
Published: 2022-04-14
How to Cite
1.
Kumaraku AT, Bushati A, Shehu A, Meçani R, Cullufi P. Current mutation-targeted DMD treatments and their theoretical application in a sub-group of Albanian patients. Med. res. chronicles [Internet]. 2022Apr.14 [cited 2022May22];9(2):133-6. Available from: https://medrech.com/index.php/medrech/article/view/574
Section
Original Research Article