Table 6.
LMNA-related progeroid syndromes treatment
| Pubmed | Ref. | Clinical diagnosis ORDO | ORPHA code | Type of study | OCEBM | Number LMNA patients | HGVS cDNA | HGVS protein | Treatment or intervention name | Treatment or intervention ID | Clinical effect |
| 17935239 | Kosho et al., 2007 [87] | MADA | 90153 | Case report | 5 | 1 | c.1585G > A | p.Ala529Thr | Alendronic acid biphosphonates in general | CHEBI: 2567 | small |
| 31199775 | Toni et al., 2019 [122] | HGPS | 740 | Case report | 5 | 1 | c.433G > A | p.Glu145Lys | Growth Hormone | CHEBI: 37845 | small |
| 17642424 | Sadeghi-Nejad et al., 2007 [84] | HGPS | 740 | Case report | 5 | 1 | c.1822G > A | p.Gly608Ser | Growth Hormone | CHEBI: 37845 | small |
| 9258264 | Abdenur et al., 1997 [85] | HGPS | 740 | Case series | 4 | 3 | NA | NA | Growth Hormone; Nutritional Intervention (= no code) | CHEBI: 37845 | small |
| 23012407 | Gordon et al., 2012 [81] | HGPS | 740 | Cohort study | 3 | 26 | c.1824C > T | p.Gly608Gly | Lonafarnib | CHEBI: 47097 | small |
| 29710166 | Gordon et al., 2018 [82] | HGPS | 740 | Cohort study | 3 | 63 | c.1824C > T | p.Gly608Gly | Lonafarnib | CHEBI: 47097 | small |
| 27400896 | Gordon et al., 2016 [83] | HGPS | 740 | Cohort study | 3 | 37 | c.1824C > T | p.Gly608Gly | Lonafarnib | CHEBI: 47097; | small |
| Pravastatin | CHEBI: 63618 | ||||||||||
| Zoledronic acid | CHEBI: 46557 |
MADA: Mandibulo Acral Dysplasia Type A with Lipodystrophy; HGPS: Hutchinson-Gilford Progeria Syndrome.