We are developing genetic medicines with the potential to deliver transformative value for patients.

X-linked Myotubular Myopathy (XLMTM)

Pompe Disease

Duchenne Muscular Dystrophy (DMD)

Myotonic Dystrophy Type 1 (DM1)

References

  1. Guan, Xuan, et al. “Gene therapy in monogenic congenital myopathies.” Methods 99 (2016): 91-98.
  2. Jungbluth, Heinz, Carina Wallgren-Pettersson, and Jocelyn Laporte. “Centronuclear (myotubular) myopathy.” Orphanet journal of rare diseases 3.1 (2008): 26.
  3. McEntagart M, Parsons G, Buj-Bello A, et al. Genotype-phenotype correlations in x-linked myotubular myopathy. Neuromuscul Disord. 2002;12(10):939-46.
  4. Beggs AH, Byrne BJ, De Chastonay S, et al. A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. Muscle Nerve. 2018;57(4):550-560. doi:10.1002/mus.26018
  5. Kishnani et al. 2006 Pompe disease diagnosis and management guideline. Version 1. Genet Med. 8(5): 267–288.
  6. Mendell JR, Shilling C, Leslie ND, et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol 2012;71:304-313.