Collagen VI myopathies

Collagen VI myopathies, caused by mutations in the genes encoding collagen type VI (ColVI), represent a clinical continuum with Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) at each end of the spectrum, and less well-defined intermediate phenotypes in between. ColVI myopathies also share common features with other disorders associated with prominent muscle contractures, making differential diagnosis difficult.


Clinical trials ongoing at the Institute:

  •  Three Data Banks on collagenopathies : UMD-COL6 A1, UMD-COL6 A2, UMD-COL6 A3
    These databases to gather genetics and clinical elements from DMC type Ullrich patients with mutation in one of those genes COL6 A1, COL6 A2 ou COL6 A3 coding for collagen, published in the scientific and medical literature.
  • Col6 : Collagen type VI dystrophies global registry
Acronym UMD-COL6 A1, UMD-COL6 A2, UMD-COL6 A3 Col6
Study Type non-interventional data collection published in the scientific and medical literature RIPH2
Collagenopathies : mutations in COL6A1, COL6A2 and COL6A3 genes Collagen type VI dystrophies
Principal investigators
Valérie Allamand & Pascale Richard Tanya Stojkovic
Sponsor Centre de recherche en myologie, Institut de Myologie / UF de Cardiogénétique et Myogénétique Moléculaire et Cellulaire AIM
Study status Ongoing In preparation
Recruitment status Ongoing In preparation
Population Adult / Child Adult