Die Zeitschrift schreibt über den Weg unserer Familie vom Verdacht über die Diagnose, das tiefe Loch, das wir gefallen sind, und wie daraus dieser wunderbare Verein entstanden ist. Inzwischen können wir uns mit anderen Eltern austauschen, „neue“ Eltern fallen nicht in dasselbe Loch und wir haben Forschung initiiert – Therapieforschung, die Hoffnung gibt.

How our efforts lead to steps towards therapy: Our research partners Prof. Bertoldi and Prof. Tikkanen obtained funding from GC Pharma, a well-established pharmaceutical company which is committed to the treatment of rare diseases.

Bertoldi: “Through bioinformatics, stable variants of SSADH are produced and their functional properties are evaluated. In collaboration with the group Tikkanen the efficacy of these variants are assessed in a cellular model and in an appropriate mouse model, a prerequisite for the clinical trials„.

A research group of the university Verona, directed by Mariarita Bertoldi, professor of Biochemistry in the department of Neuroscience, biomedicine and movement, is working to arrive at a synthesis of a more stable enzyme, a fundamental prerequisite for achieving precision therapy with the approach of Enzyme Replacement Therapy, which consists in the use of a healthy (wild-type) enzyme in order to replace the non-functioning one produced by the patient.

SSADH deficiency is a rare and debilitating neurometabolic disease. It is caused by mutations in the gene encoding for the succinic semialdehyde dehydrogenase (SSADH) enzyme, that lead to the synthesis of enzymatic variants unable to perform an efficient catalysis. This enzyme is responsible for one of the catabolic pathways of the inhibitory neurotransmitter GABA, which is essential for motor control. When the levels of GABA are altered, there are pathological manifestations both in the neurological and motor fields. Patients with this rare disease are identified in pediatric age and present with motor and developmental disorders.

(original press release: https://www.univrmagazine.it/2022/01/27/un-passo-avanti-nella-ricerca-sulla-ssadh-deficiency/)