Progeria medical therapy
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
There is no treatment for Hutchinson-Gilford progeria syndrome (HGPS); the mainstay of therapy is supportive care. But the good news is that there are new investigational therapies for Hutchinson-Gilford progeria syndrome (HGPS) patients which include lonafarnib and everolimus.
Medical Therapy
- New investigational therapies for Hutchinson-Gilford progeria syndrome (HGPS) patients include the following:[1]
- Farnesyltransferase inhibitor (FTI)- Lonafarnib
- mTOR inhibitor- Everolimus
Lonafarnib
- Lonafarnib is a farnesyltransferase inhibitor (FTI).[2]
- Mechanism action of lonafarnib is it may inhibit the formation of the truncated lamin A protein which is called progerin.
- Lonafarnib also inhibit anchoring of the protein lamin A to the inner surface of the nuclear membrane, thus significantly improving disease results in Hutchinson-Gilford progeria syndrome (HGPS) patients.
- Lonafarnibis administered orally twice a day.
- Using lonafarnib on patients with Hutchinson-Gilford progeria syndrome (HGPS) shows good improvements on the following:[3][4]
- Lonafarnib improves weight gain
- Lonafarnib improves vascular distensibility
- Lonafarnib improves vascular echodensity
- Lonafarnib improves skeletal rigidity
- Lonafarnib improves vascular stiffness
- Lonafarnib improves bone rigidity
- Lonafarnib improves neurosensory hearing
- Lonafarnib reduces the prevalence of stroke and TIA
- Lonafarnib improves headaches
- Lonafarnib improves life span in patients with HGPS[5]
Everolimus
- Everolimus is a rapamycin-like drug which is a mTOR inhibitor which improves cellular autophagy.[6][7][8]
- Everolimus is a oral medication and should be given once daily on daily basis.
- Everolimus mechanism of action is it improves cellular phenotypes in HGPS fibroblasts via increased autophagy(self-eating)
References
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). “GeneReviews®”. PMID 20301300.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). “GeneReviews®”. PMID 20301300.
- ↑ Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M; et al. (2012). “Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome”. Proc Natl Acad Sci U S A. 109 (41): 16666–71. doi:10.1073/pnas.1202529109. PMC 3478615. PMID 23012407.
- ↑ Ullrich NJ, Kieran MW, Miller DT, Gordon LB, Cho YJ, Silvera VM; et al. (2013). “Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment”. Neurology. 81 (5): 427–30. doi:10.1212/WNL.0b013e31829d85c0. PMC 3776537. PMID 23897869.
- ↑ Gordon LB, Massaro J, D’Agostino RB, Campbell SE, Brazier J, Brown WT; et al. (2014). “Impact of farnesylation inhibitors on survival in Hutchinson-Gilford progeria syndrome”. Circulation. 130 (1): 27–34. doi:10.1161/CIRCULATIONAHA.113.008285. PMC 4082404. PMID 24795390.
- ↑ Cenni V, Capanni C, Columbaro M, Ortolani M, D’Apice MR, Novelli G; et al. (2011). “Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria”. Eur J Histochem. 55 (4): e36. doi:10.4081/ejh.2011.e36. PMC 3284238. PMID 22297442.
- ↑ Cao K, Blair CD, Faddah DA, Kieckhaefer JE, Olive M, Erdos MR; et al. (2011). “Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts”. J Clin Invest. 121 (7): 2833–44. doi:10.1172/JCI43578. PMC 3223819. PMID 21670498.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). “GeneReviews®”. PMID 20301300.
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