Dados do Trabalho

Título

DIFFICULTIES IN TREATING CLN2 THROUGH ENZYME REPLACEMENT THERAPY.

Introdução

Neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurometabolic disease whose treatment consists of enzyme replacement therapy (ERT) performed through a syringe pump connected to a catheter surgically implanted in the cerebral ventricle. The therapy brought about a change in the natural history of the disease in these patients. However, there are several barriers to the implementation of this therapy.

Objetivo

Report the difficulties in treating CLN2 through enzyme replacement therapy.

Métodos

Quantitative, descriptive, retrospective, observational study carried out at a reference center for genetic diseases in the Northeast of the country related to the treatment of CLN2 from 2020 to 2022.

Resultados

At the referral center, we have 3 wheelchair patients treated with CLN2. Delay in drug supply due to judicialization, lack of continuation of therapy due to interruption of medication supply by the government, PCR for COVID-19 in the 48-hour pre-medication period, and delay in organizing the reference center for Brineura® infusion in the post-pandemic period was a problem for all patients. Case 1: 14 years old, male, with the use of medication, the patient became more active, started to feed himself, and showed greater independence to walk, but he fell from his own height and had bleeding in the CSF puncture of the intracerebroventricular catheter ( ICRC) pre-infusion, causing the catheter to have to be evaluated by CT scan of the head and momentarily interrupting the infusions. Over time, the patient also became less cooperative and had infusion losses due to convulsions and strokes. Family problems were also a reason for the lack of infusion. Case 2: 15-year-old male, had an infectious complication after ICRC implantation, lived far from the infusion center, and had frequent transport problems. Case 3: 15-year-old female, had difficulty in scheduling a cranial CT with neuronavigation for planning ICRC implantation and ICRC implantation in the operating room due to the COVID-19 pandemic.

Conclusões

There are several barriers to the implementation of ERT in CLN2. Every team that treats CLN2 must be attentive to reduce patients' difficulties in performing the therapy. Families must be connected with the healthcare team to maintain CLN2 therapy and improve patients' quality of life.

Palavras chave

Enzyme Replacement Therapy; Metabolism, Inborn Errors; Genetics

Referências (se houver)

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Eu, Erlane Marques Ribeiro e Dr. Andre Luiz Santos Pessoa recebemos honorários da
Biomarin para fazer palestras eventuais, participação de elaboração de Guias de manejo
de fenilcetonuria e ajuda de custo para eventos científicos. Os outros autores não tem
conflito de interesse referente ao trabalho "Dificuldades para tratamento da CLN2 através da terapia de reposição enzimática."

Área

Erros inatos do metabolismo