Dados do Trabalho

Título

Natural history of patients with X-linked myotubular myopathy (XLMTM) in Brazil: an exploratory claims analysis

Introdução

X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital centronuclear myopathy that affects 1:40,000-50,000 newborn males. Infants present with profound hypotonia, muscle weakness and respiratory distress, with nearly half dying of respiratory failure within the first two years of life. Most patients are dependent on supportive care, including chronic ventilator and feeding support. The natural history of XLMTM is not well-defined, and to our knowledge, no studies have been conducted in Latin America. We present preliminary findings from a real-world, population-based claims analysis of patients with XLMTM in Brazil.

Objetivo

To describe the natural history of patients with XLMTM using administrative claims data from the Brazilian public healthcare system (SUS, Sistema Único de Saúde).

Métodos

Data from 2015 to 2019 were extracted from DATASUS database, representing about 75% of the Brazilian population. As no XLMTM-specific ICD-10 code was available, a stepwise algorithm was applied to identify the study population. The algorithm included the selection of male patients with congenital myopathies code (G71.2), aged <18 years at index (first claim of G71.2), without spinal muscular atrophy (G12.* or using nusinersen) or Duchenne muscular dystrophy (G71.0). The cohort was restricted to those with an associated diagnostic procedure (muscle biopsy/genetic test). Preliminary findings of the cohort using descriptive statistics are presented.

Resultados

Of 7,817 patients pre-identified, 180 (2.3%) were eligible for inclusion. Of the 180 patients, 39% were under 5 years old (yo) at index, with a mean age (standard deviation) of 1.9 y (1.5) for patients under 5yo, and 10.6 y (3.2) for ≥5 yo. Most patients had a muscle biopsy (89% <5 yo; 97% ≥5 yo), and few had a genetic test (11% <5 yo; 3% ≥5yo). Most patients live in Brasilia (n=55), followed by São Paulo (n=33) and Minas Gerais (n=27) at index.

Conclusões

This real-world study of patients with XLMTM in Brazil provides a unique opportunity to better understand the natural history of disease and unmet medical needs of this understudied population. Preliminary findings indicate that genetic testing is underutilized in XLMTM and may contribute to the underdiagnosis of this disease.

Palavras Chave

XLMTM; administrative database; real world evidence; DATASUS.

Referências (se houver)

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Dr. Sgobbi had received payments for classes by Alnylam, Audentes-Astellas, Biogen, Biomarin, Novartis, PTC and Sanofi companies. Dr. Sgobbi had received payments for participation in advisory boards or scientific consultancy by Alnylam, Audentes-Astellas, Biogen, Novartis, Pfizer and Sanofi. Dr. Sgobbi had received fees for participation in clinical studies or clinical trials by Alnylam, Biogen and Sanofi.


DECELARAÇÃO DE CONFLITO DE INTERESSE - JADER BAIMA
Declaro, para os devidos fins que eu, Jader Araújo Baima Filho, sou funcionário da empresa Astellas Farmacêutica do Brasil, patrocinadora do evento.
Rio de Janeiro, 30 de julho de 2021
Jader Baima
CPF 262.405.563-00
CREMESP: 68904

Área

Doenças neuromusculares