gebruik en toediening




Veelbelovende innovaties en verbeteringen: Amicus, Oxyrane, Biomarin, Gentherapie


Vergevorderde trials bij Amicus:  AT2220 verhoogt de opname van Myozyme aanzienlijk

Mark Tarnopolsky, McMaster Univ. showed "A Phase 2 Study to
Investigate Drug-Drug Interactions between escalating doses of AT2220 and rhGAA
in subjects with pompe Disease". So this is the combination of Amicus' AT2220
and ERT and it has shown to increase active levels of rhGAA in both blood and
muscle. There appeared to be a "dose dependent" escalation of rhGAA when
combined with increasing AT2220. There will be a follow up clinical Trial to
help establish the optimal dosing and confirm these finding. Cross your fingers
with this one as it could really help stabilize ERT if it works and so far so

Pre-klinisch succes bij Oxyrane: 20-voudige verbeterde opname van Pompe-enzym

Oxyrane, founded in 2006, develops enzyme replacement therapies (ERT) for the treatment of lysosomal storage disorders (LSDs). Oxyrane’s lead product is OXY2098-95 which is currently in pre-clinical testing for Pompe Disease. Pompe disease is a rare disorder where the progressive accumulation of glycogen results in muscle weakness – particularly in the heart and skeletal muscle. In November 2012 Oxyrane announced positive results from a study undertaken in collaboration with a Belgian University showed that LSDs can be treated with modified enzymes such as OXY2098-95. The increased level of targeting shown in the trial resulted in a 20 fold increase in cellular uptake of the enzyme, thus having the potential to significantly improve treatment for patients with LSDs. This trial has laid the foundations for Oxyrane to move forward into clinical development. Oxyrane now hopes to move forward into clinical development in the coming months with a Phase I trial being planned. Oxyrane also has 4 other programmes they are hoping to progress in various LSD indications.

Biomarin: Verhoging Enzymopname dankzij GILT

001 is a phase I/II open
label dose
finding study of the safety and tolerability of BMN 701
in patients with late
onset Pompe Disease
that has been open approximate
ly 1 year. Patients
are treated by intravenous infusion every 2 weeks for up to 24 weeks. Three dose levels of
BMN 701 are being investigated (5, 10 & 20 mg/kg). The study’s primary endpoint is to
determine the immune response to the drug. Secondary en
dpoints include pharmacokinetics,
and preliminary efficacy assessments. A preliminary report on the POM
001 study was
presented by Dr. Bruce Barshop (University of California, San Diego) in February at the 8
Annual WORLD Symposium for Lysosomal Storage
Disorders. So far, six patients have been
treated at the 5 & 10 mg/kg dose levels for up to 24 weeks. The first subject began dosing at
the 20 mg/kg dose level in January 2012 after an independent review board permitted dose
escalation. UK study sites
were opened in February and March of this year.

Overstappen naar Gentherapie: 'Bloedcellen als fabriek' maar dan wel met een financiële injectie en door het nog wat tijd te geven

Lees het artikel (pag 3 e.v.) over Wagemaker, nog vier jaar (lees) en 'zo ingewikkeld is het niet meer'