Multiple AbnormalitiesNCT00955370
The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition
An observational study of Multiple Abnormalities, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
Background: Rare and undiagnosed conditions are often chronic and disabling, with symptoms affecting different organ systems at various levels of severity. Perhaps the most challenging feature of an undiagnosed medical condition that has lasted 2 or more years is its characteristic uncertainty. Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- Multiple Abnormalities
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- 4 Aug 2009to 10 Apr 2012
- 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 to 100 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Men and women 18 years or older
- Biological or adoptive parent
- At least one child of participants has a medical problem or problems that have remained undiagnosed for > 2 years
- The child with an undiagnosed medical problem must reside with the parent
- Read and write in English
Who cannot join
- -One parent/household may participate
Trial locations and contacts
1 site in 1 country.
United States1 site
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Background:
- Rare and undiagnosed conditions are often chronic and disabling, with symptoms affecting different organ systems at various levels of severity. Perhaps the most challenging feature of an undiagnosed medical condition that has lasted 2 or more years is its characteristic uncertainty. In the absence of a diagnosis, health care professionals can provide only limited treatment and prognostic information.
- In the case of a child with an undiagnosed condition, the uncertainty that accompanies what is often a chronic, debilitating medical condition and an undefined prognosis may have physical, psychological, social, and spiritual implications for the entire family. Research suggests that parents of a child with an undiagnosed medical condition may be at significantly increased risk of anxiety, depression, poor health, and overall lower quality of life.
- It is not well understood how individuals cope with and adapt to chronic uncertainty, and the factors that influence this process. To design future interventions, descriptive studies are needed to reveal predictors that can be manipulated to improve outcomes.
Read more
Objectives:
- To examine whether perceptions of uncertainty, and perceived personal control, are associated with coping and adaptation.
- To examine how the length of time elapsed since child was identified as sick and perceptions of uncertainty affect coping and adaptation.
- To assess how perceptions of uncertainty, time elapsed since child became sick, optimism, and perceived personal control affect coping and adaptation.
Eligibility:
- Parents (older than 18 years of age) of children who have an undiagnosed medical condition.
- Participants must have a working e-mail address or fixed postal address.
Design:
- Parents will be recruited from Web-based support networks for parents of undiagnosed children through Web site postings, electronic mailing lists, and printed newsletter postings.
- Participants will be asked to complete a questionnaire about their experiences in living with a child who has an undiagnosed but chronic medical condition. The main outcome variable is adaptation to living with one's child's undiagnosed medical condition.
- Participants have the option to complete an online or paper version of the questionnaire. The questionnaire should take between 20 and 30 minutes to complete.
- No medical treatments are specifically offered as a part of this study.
Read the detailed description
This study aims to understand the impact on parents of having a child with an undiagnosed medical condition and the factors that contribute to their adaptation. Rare and undiagnosed conditions are often chronic and disabling, with symptoms affecting different organ systems at various levels of severity. Perhaps the most challenging feature of an undiagnosed medical condition that has lasted two or more years, however, is its characteristic uncertainty. In the absence of a diagnosis, health care professionals can provide only limited treatment and prognostic information. It is not well understood how individuals cope with and adapt to chronic uncertainty, and the factors that influence this process. To design future interventions, descriptive studies are needed to reveal predictors that can be manipulated to improve outcomes. In this study, Lazarus and Folkman's Transactional Model of Stress and Coping provides a framework to examine coping and adaptation in the parents of children who have had a chronic, undiagnosed medical condition for two or more years. A cross-sectional research design using a mixed methods survey will be used to examine the relationships among appraisals (perceptions of uncertainty and perceived personal control), time elapsed since parents first realized their child was sick, coping and adaptation. Parents will be recruited from web-based support networks for parents of undiagnosed children via website postings, email listservs and printed newsletter postings. Participants will have the option to complete an online or paper version of the questionnaire. The main outcome variable is adaptation to living with one's child's undiagnosed medical condition.
- Conditions
- Multiple Abnormalities
- Keywords
- Uncertainty, Undiagnosed, Rare Diseases, Parents, Multiple Abnormalities
- Medical subject headings
- Abnormalities, Multiple, Rare Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Aug 2009 (estimated)
- Study start4 Aug 2009
- Study completion10 Apr 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Multiple AbnormalitiesStudies of the same condition, open and under way.
- 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
- Time perspective
- Retrospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Investigators
- Barbara B Biesecker, Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00955370
- Sponsor's protocol ID
- 999909206
- Other IDs
- 09-HG-N206
- Status last verified
- 10 Apr 2012
- First submitted
- 7 Aug 2009
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Guillem P, Cans C, Robert-Gnansia E, Ayme S, Jouk PS. Rare diseases in disabled children: an epidemiological survey. Arch Dis Child. 2008 Feb;93(2):115-8. doi: 10.1136/adc.2006.104455. Epub 2007 Oct 17.
PubMed 17942587Lenhard W, Breitenbach E, Ebert H, Schindelhauer-Deutscher HJ, Henn W. Psychological benefit of diagnostic certainty for mothers of children with disabilities: lessons from Down syndrome. Am J Med Genet A. 2005 Mar 1;133A(2):170-5. doi: 10.1002/ajmg.a.30571.
PubMed 15666306Rosenthal ET, Biesecker LG, Biesecker BB. Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes. Am J Med Genet. 2001 Oct 1;103(2):106-14. doi: 10.1002/ajmg.1527.
PubMed 11568915
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition
- ClinicalTrials.gov ID
- NCT00955370
- Acronym / sponsor ID
- 999909206
- Conditions
- Multiple Abnormalities
- Keywords
- Uncertainty, Undiagnosed, Rare Diseases, Parents, Multiple Abnormalities
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 4 Aug 2009
- Study completion
- 10 Apr 2012
- First posted
- 10 Aug 2009 (estimated)
- 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.
Background:
- Rare and undiagnosed conditions are often chronic and disabling, with symptoms affecting different organ systems at various levels of severity. Perhaps the most challenging feature of an undiagnosed medical condition that has lasted 2 or more years is its characteristic uncertainty. In the absence of a diagnosis, health care professionals can provide only limited treatment and prognostic information.
- In the case of a child with an undiagnosed condition, the uncertainty that accompanies what is often a chronic, debilitating medical condition and an undefined prognosis may have physical, psychological, social, and spiritual implications for the entire family. Research suggests that parents of a child with an undiagnosed medical condition may be at significantly increased risk of anxiety, depression, poor health, and overall lower quality of life.
- It is not well understood how individuals cope with and adapt to chronic uncertainty, and the factors that influence this process. To design future interventions, descriptive studies are needed to reveal predictors that can be manipulated to improve outcomes.
Objectives:
- To examine whether perceptions of uncertainty, and perceived personal control, are associated with coping and adaptation.
- To examine how the length of time elapsed since child was identified as sick and perceptions of uncertainty affect coping and adaptation.
- To assess how perceptions of uncertainty, time elapsed since child became sick, optimism, and perceived personal control affect coping and adaptation.
Eligibility:
- Parents (older than 18 years of age) of children who have an undiagnosed medical condition.
- Participants must have a working e-mail address or fixed postal address.
Design:
- Parents will be recruited from Web-based support networks for parents of undiagnosed children through Web site postings, electronic mailing lists, and printed newsletter postings.
- Participants will be asked to complete a questionnaire about their experiences in living with a child who has an undiagnosed but chronic medical condition. The main outcome variable is adaptation to living with one's child's undiagnosed medical condition.
- Participants have the option to complete an online or paper version of the questionnaire. The questionnaire should take between 20 and 30 minutes to complete.
- No medical treatments are specifically offered as a part of this study.
Detailed description
This study aims to understand the impact on parents of having a child with an undiagnosed medical condition and the factors that contribute to their adaptation. Rare and undiagnosed conditions are often chronic and disabling, with symptoms affecting different organ systems at various levels of severity. Perhaps the most challenging feature of an undiagnosed medical condition that has lasted two or more years, however, is its characteristic uncertainty. In the absence of a diagnosis, health care professionals can provide only limited treatment and prognostic information. It is not well understood how individuals cope with and adapt to chronic uncertainty, and the factors that influence this process. To design future interventions, descriptive studies are needed to reveal predictors that can be manipulated to improve outcomes. In this study, Lazarus and Folkman's Transactional Model of Stress and Coping provides a framework to examine coping and adaptation in the parents of children who have had a chronic, undiagnosed medical condition for two or more years. A cross-sectional research design using a mixed methods survey will be used to examine the relationships among appraisals (perceptions of uncertainty and perceived personal control), time elapsed since parents first realized their child was sick, coping and adaptation. Parents will be recruited from web-based support networks for parents of undiagnosed children via website postings, email listservs and printed newsletter postings. Participants will have the option to complete an online or paper version of the questionnaire. The main outcome variable is adaptation to living with one's child's undiagnosed medical condition.
Study design
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- Men and women 18 years or older
- Biological or adoptive parent
- At least one child of participants has a medical problem or problems that have remained undiagnosed for > 2 years
- The child with an undiagnosed medical problem must reside with the parent
- Read and write in English
Key exclusion criteria (1 listed)
- -One parent/household may participate
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
Not reported in the source record.
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 2 Jul 2017.
- Background: PubMed 17942587Guillem P, Cans C, Robert-Gnansia E, Ayme S, Jouk PS. Rare diseases in disabled children: an epidemiological survey. Arch Dis Child. 2008 Feb;93(2):115-8. doi: 10.1136/adc.2006.104455. Epub 2007 Oct 17.
- Background: PubMed 15666306Lenhard W, Breitenbach E, Ebert H, Schindelhauer-Deutscher HJ, Henn W. Psychological benefit of diagnostic certainty for mothers of children with disabilities: lessons from Down syndrome. Am J Med Genet A. 2005 Mar 1;133A(2):170-5. doi: 10.1002/ajmg.a.30571.
- Background: PubMed 11568915Rosenthal ET, Biesecker LG, Biesecker BB. Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes. Am J Med Genet. 2001 Oct 1;103(2):106-14. doi: 10.1002/ajmg.1527.
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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.
Barbara B Biesecker principal investigator
National Human Genome Research Institute (NHGRI)
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 Multiple Abnormalities, run by National Human Genome Research Institute (NHGRI) 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 5 inclusion and 1 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 2 Jul 2017. 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.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00955370, which also lists 3 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 2 Jul 2017.