- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03440905
Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders
Study Overview
Status
Conditions
Detailed Description
A total of three online surveys will be provided to each family caregiver that fits the inclusion criteria and is enrolled in the RDCRN STAIR Contact Registry. All three surveys should take approximately 60 minutes total to complete.
The first survey included is the ZSD Symptom Inventory, which is comprised of both multiple choice and open-ended responses. The survey asks family caregivers multiple questions regarding their child's mobility, balance, vision, and hearing status, as well as when they were diagnosed, test results, and past and present symptoms. This survey was adapted from an instrument that was developed by a physician-researcher in the field of ZSD to correlate caregiver-reported symptoms of ZSD to metabolic markers of ZSD (Wangler et al. Manuscript submitted, Pediatrics). For the purpose of this study, the survey was expanded to include domains that were determined based on existing literature on clinical symptoms of ZSD as well as input from both expert clinicians in the field and parents of children diagnosed with ZSD. Both clinicians and parents were in agreement that the questions included in the survey were comprehensive, appropriate and relevant for ZSD. Additionally, pilot testing of this survey to 34 family ZSD caregivers (26 parents of living children, 8 parents of deceased children) provided feedback on increasing the answer choice options for the survey, and adding more open-ended questions. This survey will take an estimated 40 minutes to complete. Family caregivers of living and deceased children will take this survey, and the tense and recall language will be modified to accommodate each of these experiences.
The second survey is the Pediatric Inventory for Parents (PIP) Survey. It includes 42 Likert-scale questions; for each question asked, two sets of responses need to be completed, including responses to "how often" and "how difficult" each topic is for the patient or family caregiver over a given period of time. The PIP measures four domains including communication, medical care, emotional distress, and role function. This instrument has been validated to assess caregiver burden in multiple pediatric chronic illnesses, including type I diabetes, inflammatory bowel disease, and multiple congenital disorders including mitochondrial disease. Although this is validated in parents of living children with pediatric illnesses, the investigators will also be administering a modified PIP to ZSD family caregivers of deceased children, asking them to recall their experience over the last 12 months of their child's life. The PIP takes an estimated 10 minutes to complete.
The third survey is the Family Quality of Life (FQOL) Survey. It includes 25 Likert-scale questions, regarding how parents/primary caregivers feel about his or her life together as a family over a given period of time. The FQOL measures 5 domains including family interaction, parenting, emotional well-being, physical/material well-being, and disability-related support, and has been validated for use in families of children with disabilities. Although this is validated in parents of living children with disabilities, the investigators will also be administering a modified FQOL to ZSD family caregivers of deceased children, asking them to recall their experience over the last 12 months of their child's life. The FQOL takes less than 10 minutes to complete.
The PIP and the FQOL were chosen for this study as they are validated tools for assessing quality of life in caregivers for chronic pediatric illnesses (PIP) and for children with disabilities (FQOL). Although many of these diseases that have been used for validation of these instruments are clinically distinct from ZSD, we expect there to be similarities in the caregiver experience between ZSD and these diseases in the domains of communication, medical care, emotional distress, family interaction, parenting, physical well-being and disability-related support. As a rare disease, the relatively low prevalence of the ZSD and likely decreased awareness may affect certain domains differently than the more common diseases that have been studied using these tools. Nevertheless, the PIP is one of the most commonly used survey tools for caregiver quality of life in chronic pediatric illnesses [8]. The FQOL is currently one of the only tools for assessing quality of life in caregivers for children with disabilities. This is one of the first studies assessing quality of life in families affected by ZSD; the information gained from this study can be used to help shape future quality of life studies in ZSD and other rare disease populations as well as ultimately be used to determine the impact of the disease and emerging treatments.
All participants will have 2 months from the time that they complete the consent form to complete all 3 surveys. Recruitment for the study will close 6 months from the survey launch date.
The survey data will be stored by the RDCRN's Data Management and Coordinating Center (DMCC) at the University of South Florida (USF). The RDCRN Contact Registry collects the names, phone numbers, and addresses of registrants. All data collected will be sent to the database of Genotypes and Phenotypes (dbGaP) to be stored indefinitely.
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
Florida
-
Tampa, Florida, United States, 33512
- University of South Florida
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Family caregiver (parents, stepparents, legal guardians) of child (living or deceased) diagnosed with ZSD, acyl CoA oxidase (ACOX) deficiency or D-bifunctional protein deficiency (DBPD)
- Family caregiver is able to complete surveys
Exclusion Criteria:
- Inability of family caregiver to provide informed consent and complete survey
- Parents/primary caregivers of children who have not been diagnosed with ZSD, acyl CoA oxidase deficiency and D-bifunctional protein deficiency
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Other
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Characterization of Symptoms
Time Frame: 6 months from the study start date
|
To characterize the symptoms of Zellweger spectrum disorder (ZSD) and related peroxisome disorders through family caregiver-reported measures using a customized survey tool.
|
6 months from the study start date
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Quality of Life Assessment
Time Frame: 6 months from the study start date
|
To assess quality of life for family caregivers of children with ZSD and related peroxisome disorders through the domains of communication, medical care, emotional distress and well-being, role function, family interaction, parenting, and disability-related support, using the validated Pediatric Inventory for Parents (PIP).
|
6 months from the study start date
|
Quality of Life Assessment
Time Frame: 6 months from the study start date
|
To assess quality of life for family caregivers of children with ZSD and related peroxisome disorders through the domains of communication, medical care, emotional distress and well-being, role function, family interaction, parenting, and disability-related support, using the FQOL Survey.
|
6 months from the study start date
|
Other Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Quality of Life Caregiver-reported Comparison
Time Frame: 6 months from the study start date
|
To compare family caregiver-reported quality of life between male and female family caregivers of children with ZSD and related peroxisome disorders through the domains of communication, medical care, emotional distress and well-being, role function, family interaction, parenting, and disability-related support, using the validated Pediatric Inventory for Parents (PIP).
|
6 months from the study start date
|
Quality of Life Caregiver-reported Comparison
Time Frame: 6 months from the study start date
|
To compare family caregiver-reported quality of life between male and female family caregivers of children with ZSD and related peroxisome disorders through the domains of communication, medical care, emotional distress and well-being, role function, family interaction, parenting, and disability-related support, using the FQOL Survey.
|
6 months from the study start date
|
Collaborators and Investigators
Publications and helpful links
General Publications
- Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23.
- Klouwer FC, Berendse K, Ferdinandusse S, Wanders RJ, Engelen M, Poll-The BT. Zellweger spectrum disorders: clinical overview and management approach. Orphanet J Rare Dis. 2015 Dec 1;10:151. doi: 10.1186/s13023-015-0368-9.
- Streisand R, Braniecki S, Tercyak KP, Kazak AE. Childhood illness-related parenting stress: the pediatric inventory for parents. J Pediatr Psychol. 2001 Apr-May;26(3):155-62. doi: 10.1093/jpepsy/26.3.155.
- Senger BA, Ward LD, Barbosa-Leiker C, Bindler RC. The Parent Experience of Caring for a Child with Mitochondrial Disease. J Pediatr Nurs. 2016 Jan-Feb;31(1):32-41. doi: 10.1016/j.pedn.2015.08.007. Epub 2015 Oct 9.
- Gray WN, Graef DM, Schuman SS, Janicke DM, Hommel KA. Parenting stress in pediatric IBD: relations with child psychopathology, family functioning, and disease severity. J Dev Behav Pediatr. 2013 May;34(4):237-44. doi: 10.1097/DBP.0b013e318290568a.
- Caris EC, Dempster N, Wernovsky G, Butz C, Neely T, Allen R, Stewart J, Miller-Tate H, Fonseca R, Texter K, Nicholson L, Cua CL. Anxiety Scores in Caregivers of Children with Hypoplastic Left Heart Syndrome. Congenit Heart Dis. 2016 Dec;11(6):727-732. doi: 10.1111/chd.12387. Epub 2016 Jun 20.
- Park J, Hoffman L, Marquis J, Turnbull AP, Poston D, Mannan H, Wang M, Nelson LL. Toward assessing family outcomes of service delivery: validation of a family quality of life survey. J Intellect Disabil Res. 2003 May-Jun;47(Pt 4-5):367-84. doi: 10.1046/j.1365-2788.2003.00497.x.
- Cousino MK, Hazen RA. Parenting stress among caregivers of children with chronic illness: a systematic review. J Pediatr Psychol. 2013 Sep;38(8):809-28. doi: 10.1093/jpepsy/jst049. Epub 2013 Jul 10.
- Theil AC, Schutgens RB, Wanders RJ, Heymans HS. Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients. Eur J Pediatr. 1992 Feb;151(2):117-20. doi: 10.1007/BF01958955.
- Nasrallah F, Zidi W, Feki M, Kacem S, Tebib N, Kaabachi N. Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome. Pediatr Neonatol. 2017 Dec;58(6):484-489. doi: 10.1016/j.pedneo.2016.08.011. Epub 2017 Feb 17.
- Poll-The BT, Gootjes J, Duran M, De Klerk JB, Wenniger-Prick LJ, Admiraal RJ, Waterham HR, Wanders RJ, Barth PG. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet A. 2004 May 1;126A(4):333-8. doi: 10.1002/ajmg.a.20664.
- Johnston BC, Miller PA, Agarwal A, Mulla S, Khokhar R, De Oliveira K, Hitchcock CL, Sadeghirad B, Mohiuddin M, Sekercioglu N, Seweryn M, Koperny M, Bala MM, Adams-Webber T, Granados A, Hamed A, Crawford MW, van der Ploeg AT, Guyatt GH. Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases. J Clin Epidemiol. 2016 Nov;79:10-21. doi: 10.1016/j.jclinepi.2016.06.010. Epub 2016 Jul 2.
- Dinour LM, Pope GA, Bai YK. Breast milk pumping beliefs, supports, and barriers on a university campus. J Hum Lact. 2015 Feb;31(1):156-65. doi: 10.1177/0890334414557522. Epub 2014 Nov 11.
- Dinour LM, Pole A. Potato Chips, Cookies, and Candy Oh My! Public Commentary on Proposed Rules Regulating Competitive Foods. Health Educ Behav. 2017 Dec;44(6):867-875. doi: 10.1177/1090198117699509. Epub 2017 Apr 6.
- Dinour LM. Conflict and compromise in public health policy: analysis of changes made to five competitive food legislative proposals prior to adoption. Health Educ Behav. 2015 Apr;42(1 Suppl):76S-86S. doi: 10.1177/1090198114568303.
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Digestive System Diseases
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Kidney Diseases
- Urologic Diseases
- Congenital Abnormalities
- Liver Diseases
- Genetic Diseases, Inborn
- Metabolism, Inborn Errors
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Abnormalities, Multiple
- Peroxisomal Disorders
- Zellweger Syndrome
Other Study ID Numbers
- STAIR 7010
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Zellweger Spectrum
-
McGill University Health Centre/Research Institute...Canadian Institutes of Health Research (CIHR)RecruitingZellweger Spectrum DisorderCanada
-
McGill University Health Centre/Research Institute...RecruitingPeroxisome Biogenesis Disorder | Zellweger Spectrum Disorder | RCDP - Rhizomelic Chondrodysplasia Punctata | D-Bifunctional Protein Deficiency | Alpha-Methylacyl-CoA Racemase Deficiency | Peroxisomal Acyl-CoA Oxidase Deficiency | Peroxisomal Acyl-CoA Oxidase 2 Deficiency | ATP Binding Cassette Subfamily... and other conditionsCanada
-
Stanford UniversityCalifornia Department of Developmental ServicesRecruitingAutism Spectrum Disorder | Autistic Disorder | Autism | Autism Spectrum Disorders | Autistic Disorders Spectrum | Autistic Spectrum Disorder | Autistic Spectrum DisordersUnited States
-
Taipei Veterans General Hospital, TaiwanRecruitingKetamine | Electroencephalographic Density Spectrum Array Analysis | Density Spectrum Array | Multimodal General AnesthesiaTaiwan
-
Novartis PharmaceuticalsRecruitingPIK3CA-related Overgrowth Spectrum (PROS)United States, Canada, Spain, Switzerland, France, United Kingdom, Germany, Italy, China, Hong Kong, Netherlands, Norway
-
Novartis PharmaceuticalsActive, not recruitingPIK3CA-related Overgrowth Spectrum (PROS)Spain, France, Ireland, United States
-
Novartis PharmaceuticalsCompletedPIK3CA-Related Overgrowth Spectrum (PROS)Spain, France, Australia, United States, Ireland
-
Novartis PharmaceuticalsAvailablePIK3CA-Related Overgrowth Spectrum (PROS)
-
Hadassah Medical OrganizationTerminated
-
Mahidol UniversityCompleted