Potentialities of Gene Therapy in Pediatric Endocrinology

Abstract

Gene therapy has become an appealing therapeutic option in many pediatric fields including endocrinology. Unlike traditional drugs based on molecules that require repeated and frequently burdensome administrations, a single genetic therapeutic intervention may allow durable and curative clinical benefits. Although this highly innovative technology holds great promise for the treatment of monogenic diseases, its clinical application in the field of endocrinology has been so far challenging. In this review we will discuss various ex vivo and in vivo approaches and potential application of gene addition and gene editing approaches for treating hyperfunctional and hypofunctional endocrine diseases due to intrinsic defects or autoimmune origin. We will focus on the recent advances in gene therapy approaches aimed at treating type 1 diabetes and monogenic forms of endocrinopathies such as growth hormone deficiency, congenital adrenal hyperplasia, diabetes insipidus, IPEX, as well as their trends and future directions.

A Critical Review of Upcoming New Therapeutic Options in Paediatric Endocrinology

“…Gene therapy is being successfully applied in many paediatric fields and, with potentially a single treatment, allows obtaining lasting and curative clinical benefits, un-like conventional therapies based on molecules that require repeated administrations. Monogenic endocrine disorders such as growth hormone deficiency, congenital adrenal hyperplasia, diabetes insipidus and IPEX, as well as type 1 diabetes may be fields of application of gene therapies in the near future as exhaustively reported by Frontino et al [12].…”

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency

“…Lately, massive progress has been established in terms of molecular and genetic diagnosis, mostly considering 21OH deficiency [ 15 ]. Moreover, traditional regimes of adrenal hormone replacement are under evaluation in order to be reconsidered in terms of using alternative hydrocortisone doses with modified pharmacokinetics to mimic circadian rhythm or formulas with prolonged release, or in terms of new drugs like inhibitors of androgen biosynthesis, inhibitors of ACTH (Adrenocorticotropic Hormone) secretion through CRF (Corticotrophin Releasing Factor) type 1 receptor antagonists, and, hopefully, gene therapy [ 16 , 17 , 18 , 19 ].…”