New developments in the molecular treatment of ichthyosis: review of the literature

Joosten, M. D. W.; Clabbers, J. M. K.; Jonca, N.; Mazereeuw-Hautier, J.; Gostyński, A. H.

doi:10.1186/s13023-022-02430-6

Orphanet Journal of Rare Diseases

Table 2 Overview of recently published pathogenesis-based therapies for ichthyosis, surveyed in text

From: New developments in the molecular treatment of ichthyosis: review of the literature

Year	Study	Article	Disease	Treatment
Preclinical studies
2021	Liddle et al. [30]	Original research	NS	Small molecule; KLK5 inhibitor (GSK951)
2019	Chen et al. [77]	Original research	NS	Small molecule; Sunflower Trypsin Inhibitor (SFTI)
2013	Aufenvenne et al. [82]	Original research	ARCI (TGM1)	Replacement therapy; TG1
2019	Plank et al. [84]	Original research	ARCI (TGM1)	Replacement therapy; TG1
2021	Valentin et al. [36]	Original research	PSS1	Replacement therapy; corneodesmosin
2017	Grond et al. [85]	Original research	ARCI (PNPLA1)	Replacement therapy; PNPLA1
2018	Mauldin et al. [86]	Original research	ARCI (NIPAL4)	Replacement therapy; ω-O-acylceramides
1997	Freiberg et al. [99]	Original research	XLI	Gene therapy; STS in retroviral vector
2005	Akayima et al. [20]	Original research	HI	Gene therapy; corrective gene transfer
2005, 2006	Haug et al. [33, 100]	Original research	SLS	Gene therapy; FALDH in rAAV-2
2019	Bustos et al	Original research (abstract)	NS	Gene therapy; SPINK5 in HSV-1
1996	Choate et al. [102]	Original research	LI	Gene therapy; TGM1 in a retroviral vector
2021	Freedman et al. [103]	Original research	ARCI (TGM1)	Gene therapy; TGM1 in HSV-1
2019	March et al. [101]	Original research	EI (KRT10)	Gene therapy; TALEN
2022	Dang et al. [105]	Original research	LI	Gene therapy: base editing
2020	Lee et al. [106]	Original research	KID	Gene therapy; siRNA
Clinical studies
2011	Fontao et al. [43]	Case report	NS	Biological therapeutic; infliximab
2017	Roda et al. [44]	Case report	NS	Biological therapeutic; infliximab
2020	Steuer et al. [60]	Case report	NS	Biological therapeutic; dupilumab
2020	Andreasen et al. [61]	Case report	NS	Biological therapeutic; dupilumab
2021	Wang et al. [62]	Case report	NS	Biological therapeutic; dupilumab
2021	Sussmuth et al. [63]	Case series	NS	Biological therapeutic; dupilumab
2021	Murase et al. [64]	Case series	NS	Biological therapeutic; dupilumab
2020	Aktas et al. [65]	Case report	NS	Biological therapeutic; dupilumab
2020	Volc et al. [56]	Case report	NS	Biological therapeutic; ustekinumab
2020	Luchsinger et al. [51]	Case series	NS	Biological therapeutic; secukinumab
2020	Blanchard et al. [52]	Case report	NS	Biological therapeutic; secukinumab
2021	Barbieux et al. [54]	Case series	NS	Biological therapeutic; ixekizumab
2019	Poulton et al. [66]	Case report	ARCI (NIPAL4)	Biological therapeutic; ustekinumab
2019	Haiges et al. [67]	Case report	CIE, not genetically proven	Biological therapeutic; secukinumab
2019	Hernandez-Martin et al. [68]	Case report	SAM syndrome	Biological therapeutic; secukinumab
2018	Paller et al. [69]	Case series	SAM syndrome	Biological therapeutic; ustekinumab
2022	Lefferdink et al. [70]	Randomized controlled trial	EI NS LI CIE	Biological therapeutic; secukinumab
2006	Mazereeuw-Hautier et al. [78]	Randomized controlled trial	NS	Small molecule; rAAT
2011	Pallet et al. [87]	Case series	CHILD syndrome	Cholesterol replacement; 2% cholesterol and 2% lovastatin
2018	Bergqvist et al. [42]	Case series	CHILD syndrome	Cholesterol replacement; 2% cholesterol and 2% lovastatin
2019	Sandoval et al. [88]	Case report	CHILD syndrome	Cholesterol replacement; 2% cholesterol and 2% lovastatin
2019	Yu et al. [89]	Case series	CHILD syndrome	Cholesterol replacement; 2.5% and 5% simvastatin
2022	Kallis et al. [90]	Case report	CHILD syndrome	Cholesterol replacement; 5% simvastatin
2018	Bajawi et al. [91]	Case report	CHILD syndrome	Cholesterol replacement; 2% simvastatin
2019	Di et al. [107]	Clinical trial	NS	Gene therapy; lentiviral vector (SPINK5); epidermal sheet generation

ARCI autosomal recessive congenital ichthyosis, CIE congenital ichthyosiform erythroderma, CHILD syndrome congenital hemidysplasia with ichthyosiform erythroderma and limb defects, EI epidermolytic ichthyosis, HI Harlequin ichthyosis, HSV herpes simplex virus, KID keratitis–ichthyosis–deafness syndrome, KLK5 kallikrein 5, LI lamellar ichthyosis, NS Netherton syndrome, PSS1 peeling skin syndrome type 1, rAAT recombinant alpha antitrypsin, rAAV adeno-associated virus-2 vectors, SAM syndrome severe dermatitis, multiple allergies and metabolic waisting syndrome, siRNA small interfering RNA, SLS Sjögren–Larsson syndrome, STS steroid sulfatase, TALEN transcription activator-like effector nuclease, TGM1 transglutaminase, XLI X-linked recessive ichthyosis

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