INCEPTUS: ATX-MTM-009
Research type
Research Study
Full title
INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger
IRAS ID
191453
Contact name
Francesco Muntoni
Contact email
Sponsor organisation
Audentes Therapeutics, Inc.
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
X-Linked Myotubular Myopathy (XLMTM) is a rare, inherited neuromuscular disorder characterized by severe muscle weakness and respiratory difficulty (makes it hard to breathe). It is caused by mutations (mistakes) in the MTM1 gene, which makes an enzyme (protein found in the human body) called myotubularin. Myotubularin is thought to be involved in the development and maintenance of muscle cells, which are involved in muscle contraction and movement.
This is a pre-Phase 1 prospective, non-interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger. Subjects will be assessed every 3 months until the subject withdraws, enrols in an interventional study to treat XLMTM, or Audentes terminates the study.
This study will characterize the natural history of children with XLMTM. Many of these clinically relevant measures have not yet been routinely assessed in this population and may provide important insight on the natural history of XLMTM and for future evaluation of potential therapies. The data collected in this study may be used to ascertain effectiveness of treatment in future interventional studies.REC name
London - Hampstead Research Ethics Committee
REC reference
16/LO/0141
Date of REC Opinion
17 Feb 2016
REC opinion
Favourable Opinion