7010: Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorder

Status: RECRUITING

Study Summary

The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate. The purpose of this study is to understand the symptom frequency of Zellweger Spectrum Disorder (ZSD) and other related peroxisome disorders, as well as assess the quality of life of parents/primary caregivers affected by ZSD or another related peroxisome disorders. Information will be collected through the use of three different online surveys, to be completed by parents/primary caregivers.

For Diseases:

  • Zellweger spectrum disorder
  • acyl CoA oxidase deficiency
  • D-bifunctional protein deficiency

Background

Zellweger spectrum disorder (ZSD) and related peroxisome disorders are terminal, progressive genetic disorders that affect 1 in 50,000 individuals. Life expectancies for these diseases generally do not extend past childhood. Currently, there are very few available treatments of these disorders, mainly due to limited understanding of the various symptoms and progressions.

There has been a growing interest in the assessment of quality of life in disease populations to determine wellbeing and functioning, effectiveness of treatment options, and the overall health care needs of that population. Currently, there is no data on quality of life in families affected by ZSD and related peroxisome disorders.

The challenges of assessing symptoms, effect of treatments, and quality of life for families affected by ZSD and related peroxisome disorders are likely due to the difficulty in following a very small population. In these situations, self- and proxy-reported data such as that collected from online surveys from both the patient and the caregiver perspective may be integral to understanding the nature of the disease and the quality of life for these patients and their families. This understanding will emphasize the need for more standardized care and better treatment options for ZSD and related peroxisome disorders.

The purpose of this study is to better understand the symptoms and progression of ZSD and related peroxisome disorders through a caregiver-reported survey, and assess the quality of life of family caregivers of children diagnosed with ZSD and related peroxisome disorders. 

The research questions are:

  1. What is the prevalence of the major symptoms of ZSD and related peroxisome disorders?
  2. What is the perceived quality of life of family caregivers affected by having a child with ZSD or a related peroxisome disorder?
  3. Is there a difference in perceived quality of life between male and female caregivers for a child with ZSD or a related peroxisome disorder?

About this Study

This is a cross-sectional study, aiming to include an estimated 75 participants. There will be a total of three online surveys to complete. The surveys should take approximately 60 minutes to complete. The first survey will include both open-ended and multiple choice questions about the child affected by ZSD and their symptoms. The next two surveys will ask questions about the quality of life of family caregivers (parent, step-parent, legal guardian) of those with ZSD and related peroxisome disorders. Once the surveys are submitted, they will be stored in a secure database.

Participation

To be eligible to participate, you must:

  • Be a family caregiver (parent, step-parent, legal guardian) to a child (alive or deceased) diagnosed with:
    • Zellweger Spectrum Disorder
    • acyl CoA oxidase deficiency
    • D-bifunctional protein deficiency
  • Be a family caregiver who is able to complete surveys

You are not eligible to participate if:

  • The family caregiver is unable to provide informed consent and complete surveys
  • You are a family caregiver of children who have not been diagnosed with ZSD, acyl CoA oxidase deficiency and D-bifunctional protein deficiency

How to participate

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

New Jersey

Montclair State University
Mousumi Bose, PhD
1 Normal Avenue
Montclair, NJ 07043
E-mail: bosem@montclair.edu

Florida

University of South Florida
Health Informatics Institute

Amoy Fraser, PhDc, PMP
Research Project Manager
Phone: 813-396-9462
E-mail: Amoy.Fraser@epi.usf.edu

University of South Florida Institutional Review Board
12901 Bruce B. Downs Blvd., MDC35
Tampa, FL 33612-4799
Phone: 813-974-5638
Fax: 813-974-7091
E-mail: RSCH-IRB@usf.edu