Benjamin Lah
Pediatrična služba, Splošna bolnišnica Jesenice, Jesenice, Slovenija

Tadej Jalšovec
Zdravstveni dom Maribor, Maribor, Slovenija

Ana Drole Torkar
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana in Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Jana Kodrič
Služba za otroško psihiatrijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Saba Battelino
Klinika za otorinolaringologijo in cervikofacialno kirurgijo, Univerzitetni klinični center Ljubljana in Katedra za otorinolaringologijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Mojca Žerjav Tanšek
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana in Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Tadej Battelino
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana in Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Urh Grošelj
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija in Katedra za pediatrijo, Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Abstract

Mucopolysaccharidoses are a group of rare lysosomal storage diseases. The clinical signs develop gradually, the impairment is progressive and multiple organs are affected. With the currently known treatment options, the patient cannot be cured. However, with the arrival of effective gene therapy, together with early diagnosis and treatment, successful treatment is possible. Firstly, we present the case of a boy whose older brother’s disease enabled early diagnosis and then access to experimental gene therapy abroad, which until the present appears to have been successful. The second case is a boy, where an early diagnosis was made due to an early clinical suspicion and appropriate laboratory investigations. Consequently, experimental gene therapy abroad became possible. Both cases belong to a group of five Slovene children who underwent successful gene therapies; all of them as a part of study protocols abroad. Gene therapy is now becoming a clinical reality. Early diagnosis is the key to successful gene therapy for mucopolysaccharidosis; in the future probably also with newborn screening programmes.

Key words: genetic therapy, mucopolysaccharidoses, lysosomal storage diseases, metabolism, inborn errors, neonatal screening