Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders

NCT03440905 | Completed

• 1 other identifier: STAIR 7010
• Study Type: observational
• Target: 92
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to characterize the symptoms of Zellweger Spectrum Disorder (ZSD) and related peroxisome disorders, and to assess the quality of life of family caregivers (parents, stepparents, legal guardians) of patients diagnosed with ZSD or a related peroxisome disorder. All family caregivers of patients enrolled in the Rare Diseases Clinical Research Network (RDCRN) Contact Registry who are diagnosed with ZSD or a related peroxisome disorder will be invited via email to participate in this study.

Conditions

Zellweger Spectrum

Outcome Measures

Primary Outcomes (1)

• Characterization of Symptoms

  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 Outcomes (2)

• Quality of Life Assessment

  6 months from the study start date

• Quality of Life Assessment

  6 months from the study start date

Other Outcomes (2)

• Quality of Life Caregiver-reported Comparison

  6 months from the study start date

• Quality of Life Caregiver-reported Comparison

  6 months from the study start date

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Family caregivers (parents, stepparents, legal guardians) of patients (living or deceased) with ZSD or related peroxisome disorder diagnosis

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of South Florida: lead
• National Institutes of Health (NIH): collaborator
• Montclair State University: collaborator
• University of Nebraska: collaborator

Study Sites (1)

University of South Florida

Tampa, Florida, 33512, United States

Location

Related Publications (15)

• 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.

  PMID: 26750748 BACKGROUND

• 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.

  PMID: 26627182 BACKGROUND

• 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.

  PMID: 11259517 BACKGROUND

• 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.

  PMID: 26453412 BACKGROUND

• 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.

  PMID: 23669870 BACKGROUND

• 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.

  PMID: 27320439 BACKGROUND

• 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.

  PMID: 12787167 BACKGROUND

• 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.

  PMID: 23843630 BACKGROUND

• 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.

  PMID: 1371465 BACKGROUND

• 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.

  PMID: 28330580 BACKGROUND

• 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.

  PMID: 15098231 BACKGROUND

• 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.

  PMID: 27381737 BACKGROUND

• 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.

  PMID: 25389127 BACKGROUND

• 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.

  PMID: 28382838 BACKGROUND

• 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.

  PMID: 25829121 BACKGROUND

MeSH Terms

Conditions

Zellweger Syndrome

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Peroxisomal Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 13, 2018
• First Posted: February 22, 2018
• Study Start: January 29, 2018
• Primary Completion: November 30, 2018
• Study Completion: November 30, 2018
• Last Updated: October 16, 2019

Record last verified: 2019-10

Locations

US (1)