Clinical Trials

Currently Enrolling


This is a research study investigating nutritional assessment (as reported by parents and family caregivers) in patients with Zellweger spectrum disorder (ZSD) and related peroxisomal disorders. This study is being conducted by Dr. Mousumi Bose, Assistant Professor in the Department of Nutrition and Food Studies at Montclair State University. This study will be conducted over a 3-month period. Parents and family caregivers of children with ZSD or related peroxisomal disorders interested in participating will be asked to participate in a survey that will ask about demographic information (such as age, gender, etc) and how their child is fed. If you are 18 years of age or older and you are a parent, legal guardian, or family caregiver to a child (age 1 year or older) living with ZSD or a related peroxisomal disorder, you may be eligible to participate. If your child is currently breastfeeding or on total parenteral nutrition, you are ineligible to participate in this study at this time. 

May 2020

Zellweger Spectrum Disorder Dietary Assessment Study

Multiple locations

Montclair State University


Principal Investigator: Mousumi Bose

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.

April 14, 2017

Multiple locations

Contact: Retrophin Medical Information





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.