Glycogen storage diseases

Glycogen storage disease II or Pompe disease, and glycogen storage disease III, or Forbes disease or Cori’s disease, are part of a group of genetic metabolic diseases, the glycogen storage diseases, in which the organism is incapable of utilizing sugars as a source of energy because of an enzymatic defect.

 

Trials currently ongoing at the Institute:

  • Myozyme: Natural history of acid maltase deficiency and follow-up of Myozyme, Amicus and Biomarin patients. Multicentric registry
  • NeoGAA – TDR 12857: An open-label, multicenter, multinational, ascending dose study of the safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeated biweekly infusions of neoGAA in naïve and alglucosidase alfa treated late-onset Pompe disease patients
  • NEO-EXT – LTS 13769: An open-label, multicenter, multinational, ascending dose study of the safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeated biweekly infusions of neoGAA in naïve and alglucosidase alfa treated late-onset Pompe disease patients
  • Pro-GSDIII: Natural history study of Patients with Glycogen Storage Disease Type III
  • GSDIII Registry : A Glycogen Storage Disease Type III observational study with an ancillary study including a serum bank and a DNA bank creation

 

 

Acronym

Myozyme

NeoGAA – TDR 12857

EO-EXT – LTS 13769

Pro-GSDIII

GSDIII Registry

Study Type RBM RBM RBM RBM-HPS observational
Pathology GSDII GSDII GSDII GSDIII GSDIII
Intervention Myozyme neoGAA neoGAA
Principal investigator Pascal Laforêt Pascal Laforêt Pascal Laforêt Pascal Laforêt Philippe Labrune, Pascal Laforêt
Sponsor AIM Sanofi Sanofi AIM AIM
Study status Ongoing Ongoing Ongoing Ongoing Ongoing
Recruitment status Ongoing Closed Closed Ongoing Ongoing
Population Adult Adult Adult Adult Adult / Child
Contact pascal.laforet
@psl.aphp.fr
pascal.laforet
@psl.aphp.fr
kahina.kachetel
@aphp.fr
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