Long term preliminary safety and efficacy outcomes for x-linked myotubular myopathy with gene replacement therapy

X-linked myotubular myopathy

X-linked myotubular myopathy (McKusick no. 31040) is a congenital myopathy in which affected male subjects typically present with severe hypotonia and respiratory distress at birth. Surviving patients have prolonged ventilator dependence and grossly delayed motor milestones but usually have intact intelligence.1-3 However, the long-term prognosis as reported in the literature is generally poor,...

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

No effective treatment exists for patients with X-linked myotubular myopathy (XLMTM), a fatal congenital muscle disease caused by deficiency of the lipid phosphatase, myotubularin. The Mtm1δ4 and Mtm1 p.R69C mice model severely and moderately symptomatic XLMTM, respectively, due to differences in the degree of myotubularin deficiency. Contractile function of intact extensor digitorum longus (ED...

X-linked myotubular myopathy and chylothorax.

X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with octreotide acetate. Pleural effusions are frequent...

M complications in long-term survivors with X-linked myotubular myopathy

X-linked myotubular myopathy (McKusick no. 31040) is a congenital myopathy in which affected male subjects typically present with severe hypotonia and respiratory distress at birth. Surviving patients have prolonged ventilator dependence and grossly delayed motor milestones but usually have intact intelligence.1-3 However, the long-term prognosis as reported in the literature is generally poor,...

Severe neonatal manifestation of centronuclear myopathy: X-linked myotubular myopathy