OxalEurope PH studies 2011/2012

  1. PHOX B6 / Pilot study on systematic evaluation of pyridoxal phosphate treatment in patients with primary hyperoxaluria type 1 (Cologne/Germany)
  2. GWA / Genome wide association study of urinary oxalate excretion (Cologne, Munich/Germany)
  3. Genotype/Phenotype correlation in Germany (Multicenter, Germany)
  4. Diagnosis of primary hyperoxaluria through stone analysis a transdisciplinary approach (Cologne, Mainz/Germany, Ottawa/Canada)
  5. Development of new strategies for the treatment of Primary Hyperoxaluria Type I (Verona/Italy)
  6. Molecular mechanism of mistargeting to the mitochondria by mutated AGXT and its potential correction by proteostasis regulators (Teneriffe/Spain).
  7. Inhibition of enzymes of glyoxylate pathway for substrate reduction therapy (SRT). (Teneriffe/Spain).
  8. Testing cell therapy based on hepatocytes derived from induced pluripotent stem cells (iPS) (New York/US, Teneriffe/Spain).
  9. Preclinical research towards gene therapy for primary hyperoxaluria type I (Teneriffe/Spain, Cologne/Germany, Pamplona/Spain Amsterdam/Nether-lands, Birmingham/UK, Lyon/France).
  10. PH2 clinical outcome review in the United Kingdom (Birmingham & London, UK)
  11. Follow-up of pyridoxine responsiveness in an adult and pediatric cohort of primary hyperoxaluria type 1 with high incidence of Gly170Arg and Phe152Ile genotypes (Amsterdam, The Netherlands)