Dados do Trabalho

Título

DESCRIPTION PROTOCOL USED TO MONITOR PATIENTS TREATED WITH GENE THERAPY

Introdução

The spinal muscular atrophy (SMA) is an autosomal recessive hereditary neuromuscular disease, categorized into 4 types according to the severity. Type 2 is considered the intermediate form. There are three medication options approved by ANVISA for SMA treatment: Spinraza, Ridisplam and Zolgensma.

Objetivo

This article intents describing the protocol in terms of evaluation, infusion of gene therapy and follow-up of treated patients applied in city of Curitiba-PR.

Métodos

Description of the examinations and evaluations performed before, during and after the infusion of Genic Therapy.

Resultados

Those patients diagnosed with SMA who will receive gene therapy undergoes blood tests two weeks prior to medicine infusion. Those are blood count, liver function, renal function, coagulograma and troponima I. To do the clinical, physical therapist and speech therapist evaluations it is recommended to patient arriving in Curitiba at least four days before the infusion. A day before the infusion undergoes evaluation in the hospital. It must be decided if the venous access will run on peripheral access (two accesses) or central access; in case of central access, there is another evaluation with the anesthesia team. Patient will be guided about the preparation and fasting at proceeding day. It´ll begin taking Prednisolone at 1 mg/kg/day one day before the infusion and keep it, at least, for five weeks; it should be increased to 2 mg/kg/day if transaminases increase more than ten times the transaminase reference value. It´s requested weekly blood tests (blood count, coagulograma, TGO, TGP, gamma-GT, total and fractions bilirubinas, troponima I) during next five weeks. In case those tests (mainly transaminase one) at 5th week are considered normal, it´s allowed reducing Prednisolone at 0.2mg/kg/week. It must repeat all exams every other week next two months. After that period, it will take monthly exams until the 6th month after the infusion, then, exams should be taken every other month in the following four months, and, finally, exams will be taken twice a year until completing two years from starting gene therapy. If transaminase indexes are still increased at 5th week after the infusion, it should be maintained the Prednisolone dose and continue performing weekly blood tests until liver enzymes normalize, and then start withdrawal of corticoides, in the same way as described.

Conclusões

Present the protocol used to follow up patients with SMA treated with gene therapy in a referral service in Curitiba.

Palavras chave

Spinal muscular atrophy. Neuromuscular disease. Muscular hypotony. Gene therapy.

Referências (se houver)

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Declaro não haver conflito de interesses de TODOS os autores.

Área

Doenças neuromusculares