Zellweger SpectrumNCT03440905
Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders
An observational study of Zellweger Spectrum, run by University of South Florida at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Zellweger Spectrum
- How many people
- 92 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Jan 2018to 30 Nov 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Family caregivers (parents, stepparents, legal guardians) of patients (living or deceased) with ZSD or related peroxisome disorder diagnosis
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- Zellweger Spectrum
- Medical subject headings
- Zellweger Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 6 months from the study start date
Secondary outcomes (2)
Quality of Life Assessment
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).
Measured: 6 months from the study start date
Quality of Life Assessment
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.
Measured: 6 months from the study start date
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Feb 2018
- Study start29 Jan 2018
- Primary completion30 Nov 2018
- Study completion30 Nov 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (15)Papers the sponsor has linked to this study.
- Other trials for Zellweger SpectrumStudies of the same condition, open and under way.
- More trials run by University of South FloridaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 92 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of South Florida
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH), Montclair State University, University of Nebraska
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03440905
- Sponsor's protocol ID
- STAIR 7010
- Status last verified
- Oct 2019
- First submitted
- 13 Feb 2018
- Last updated
- 16 Oct 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
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.
PubMed 26750748Klouwer 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.
PubMed 26627182Streisand 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.
PubMed 11259517Senger 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.
PubMed 26453412Gray 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.
PubMed 23669870Caris 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.
PubMed 27320439Park 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.
PubMed 12787167Cousino 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.
PubMed 23843630Theil 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.
PubMed 1371465Nasrallah 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.
PubMed 28330580Poll-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.
PubMed 15098231Johnston 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.
PubMed 27381737Dinour 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.
PubMed 25389127Dinour 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.
PubMed 28382838Dinour 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.
PubMed 25829121
Study at a glance
From the registry record, last updated by the sponsor on 16 Oct 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders
- ClinicalTrials.gov ID
- NCT03440905
- Acronym / sponsor ID
- STAIR 7010
- Conditions
- Zellweger Spectrum
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 92 participants (actual)
- Lead sponsor
- University of South FloridaUniversity, hospital or other
- Collaborators
- National Institutes of Health (NIH), Montclair State University, University of Nebraska
- Study start
- 29 Jan 2018 (actual)
- Primary completion
- 30 Nov 2018 (actual)
- Study completion
- 30 Nov 2018 (actual)
- First posted
- 22 Feb 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Family caregivers (parents, stepparents, legal guardians) of patients (living or deceased) with ZSD or related peroxisome disorder diagnosis
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
2 secondary outcomes
Quality of Life Assessment
Time frame: 6 months from the study start date
Quality of Life Assessment
Time frame: 6 months from the study start date
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Oct 2019.
- Background: PubMed 26750748Braverman 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.
- Background: PubMed 26627182Klouwer 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.
- Background: PubMed 11259517Streisand 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.
- Background: PubMed 26453412Senger 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.
- Background: PubMed 23669870Gray 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.
- Background: PubMed 27320439Caris 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.
- Background: PubMed 12787167Park 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.
- Background: PubMed 23843630Cousino 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.
- Background: PubMed 1371465Theil 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.
- Background: PubMed 28330580Nasrallah 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.
- Background: PubMed 15098231Poll-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.
- Background: PubMed 27381737Johnston 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Zellweger Spectrum, run by University of South Florida at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Oct 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Characterization of Symptoms (time frame: 6 months from the study start date). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03440905, which also lists 15 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Oct 2019; AzTrials last refreshed its copy on 7 Nov 2026.