April 14, 2017

Multiple locations
 

Contact: Retrophin Medical Information

1-877-659-5518

 

 

 

This is a prospective, observational, non-interventional patient registry designed to document long term safety and clinical outcomes for 10 years in patients treated with Cholbam/Kolbam, including those who have been using Cholbam/Kolbam and those who start Cholbam/Kolbam treatment at enrollment.

August 17, 2012

McGill University, Montreal, Quebec, Canada

   Principal Investigator:
Dr. Nancy Braverman

The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this population clinically, biochemically and genetically. The investigators will prospectively follow patients from Canada, the US and internationally, and collect data from medical evaluations, blood, urine and imaging studies that would be performed on a clinical care basis. Patients unable to attend clinics can participate in this study by mailing in their medical information. The investigators will use this information to identify standards of care and improve management.

© 2018 by GFPD. Proudly created by CAZ Media Design

 Images on this site were contributed by families and may not be used without permission.

guide-Star-Seal2018-gold-grey.png
2018-Nord-Member-grey.png
GFPD-Logo.png
  • GFPD on Facebook
  • GFPD on Instagram
  • GFPD on Youtube
  • GFPD Amazon Smile
  • the GFPD Linkedin
  • the GFPD Twitter