Currently Enrolling
May 2024
GFPD Patient Registry for Peroxisomal Disorders
NORD IAMRARE Platform
Principal Investigator:
Abby Pelster
… .
The GFPD Patient Registry for Peroxisomal Disorders is an online registry for people with peroxisomal disorders. A patient registry is a collection of standardized information about a group of patients who share a condition. The information may be used for a variety of purposes such as conducting natural history studies and supporting disease-specific clinical trial recruitment. The GFPD Patient Registry for Peroxisomal Disorders serves to:
- Support the design of clinical trials that explore new treatments
- Describe the people who have peroxisomal disorders and to better understand the variability and stages of peroxisomal disorders
- Understand how peroxisomal disorders change over a person’s lifetime
- Learn about clinical practice patterns and variations over the course of treatment
- Help to develop best practices, management guidelines, and recommendations so that clinicians can know how to give the best
care to improve the quality of life and outcomes of people with
peroxisomal disorders - Identify people with peroxisomal disorders who might be willing to
take part in other research studies or clinical trials. You will be able to
choose whether you want to hear about these other studies.
May 20, 2024
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
McGill University, Montreal, Quebec, Canada
Principal Investigator:
Dr. Nancy Braverman
The goal in this study is to define the course of the retinal degeneration in persons with ZSD. The results will provide new information on the retinal disease as well as to design and test new vision therapies for ZSD. The results will help to:
- Determine the best time to treat the retinal disease progression
- Define how to monitor the effects of treatment in future therapy trials
- Provide information on vision loss in ZSD to physicians, patients and caregivers (e.g., a more accurate prediction for the rate of vision decline)
The study is open to individuals with ZSD of any age (infancy through adulthood) who have or are expected to develop retinal degeneration. Participants will have their eyes and vision assessed each year for five years, as well as blood collected to measure peroxisome functions. They will need to travel to Montreal or Rochester to participate, and each visit will last 1-2 days. There will be a pre-study virtual interview to determine what vision tests are possible for each participant. Assistance with travel and accommodation costs available. Participation is voluntary and you can withdraw at any time. Not participating or withdrawing will in no way alter any treatment the patient is currently receiving.
August 17, 2012
Longitudinal Natural History Study of Patients with Peroxisome Biogenesis Disorders
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 remains poorly characterized, and the natural history is 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.
Completed Trials
May 2020
Zellweger Spectrum Disorder Dietary Assessment Study
Montclair State University
Principal Investigator: Mousumi Bose
This was 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 was conducted over a 3-month period by Dr. Mousumi Bose, Associate Professor in the Department of Nutrition and Food Studies at Montclair State University. Parents and family caregivers of children with ZSD or related peroxisomal disorders interested in participating were asked to participate in a survey that collected demographic information (such as age, gender, etc.) and how their child was fed.
Bose, M; von Thun, NL; Kerrihard, AL; Lopez, ML; Donlon, CI; Smolen, AK; Fontes, NP. Comparison of Caregiver-Reported Dietary Intake Methods in Zellweger Spectrum Disorder. Nutrients. 2025; 17(6):989. https://doi.org/10.3390/nu17060989