Rett SyndromeNCT00891956
The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
An observational study of Rett Syndrome, run by National Human Genome Research Institute (NHGRI) at 3 sites in United States.
Trial summary
Background: Rett syndrome (RS) is a panethnic (affecting all ethnicities) neurodevelopmental (impairment of the growth and development of the brain) disorder affecting primarily females. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Rett Syndrome
- How many people
- 426 participants
- Where
- 3 sitesUnited States
- Study dates
- 24 Apr 2009to 13 Jan 2016
- 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
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- The study population will consist of men and women ages 18 or older who are the primary caregivers of a child with Rett Syndrome.
- The parent may be a biological or adoptive parent or other primary caregiver and the child must reside with the primary caregiver.
- Individuals of all ethnic, religious, socioeconomic, and educational backgrounds and from a variety of geographic locations in the United States will be included.
Who cannot join
- -Participants must be able to read and write in English, as it is essential for the researchers to be able to understand participants responses.
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Kennedy Krieger Institute
Baltimore, Maryland, 21205
University of Alabama
Birmingham, Alabama
Baylor College of Medicine
Houston, Texas, 77030
About this study
Background:
- Rett syndrome (RS) is a panethnic (affecting all ethnicities) neurodevelopmental (impairment of the growth and development of the brain) disorder affecting primarily females. RS is characterized by the loss of intellectual functioning, fine and gross motor skills, and communicative abilities after a period of seemingly normal development.
- Caregivers of individuals with RS face many psychosocial challenges. The stressors can be grouped into the following six categories: emotional difficulties, health-related stressors, uncertainty about their daughter s illness, rejection by their social environment, lack of available or competent experts, and unfavorable comparison with healthy children.
- Researchers are making a significant contribution to the adaptation literature with a focus on family functioning and to the little psychosocial research that exists on families with RS.
- Researchers hope to narrow down the most important areas on which to focus for intervention strategies in families with RS.
Read more
Objectives:
- To describe family functioning, perceived illness burden, self-efficacy, types of coping methods, and adaptation in caregivers of individuals with RS to examine the relationships between these variables and the outcomes of family functioning and adaptation.
- To examine the extent to which appraisals of being a caregiver of an individual with RS and methods of coping are associated with family functioning.
- To examine the extent to which appraisals of being a caregiver of an individual with RS, methods of coping, and family functioning are associated with caregiver adaptation.
Eligibility:
- Eligibility is based on answering yes to the following three questions: Are you 18 years old or older? Are you the caregiver of a child diagnosed with Rett Syndrome? and Does the child with Rett Syndrome currently reside in your home with you?
Design:
- Participants in this cross-sectional research design will answer a quantitative survey that includes some open-ended questions. The cross-sectional study involves a one-time self-administered questionnaire that takes approximately 20 to 30 minutes to complete.
- The survey will be available in paper and electronic versions and includes demographics questions, measures of perceived illness burden, parental self-efficacy, coping methods, family functioning, and adaptation. Participants also will answer open-ended questions related to the individual s diagnosis.
- Participants may withdraw from the study at any point up until submission of the survey and may skip any question.
- Participants who experience psychological distress as a result of taking the survey are advised to contact the researcher. Study coordinators at the various clinics from which participants will be recruited will be notified of the possibility of adverse events and instructed to direct any members who experience distress to the appropriate professional services.
- Participants will receive a small financial compensation for completing the survey.
Read the detailed description
This study aims to investigate the predictors of family functioning and adaptation in caregivers of individuals with Rett Syndrome (RS), a neurodevelopmental disorder affecting primarily females. After an apparently normal prenatal and postnatal period of development, individuals with RS lose intellectual functioning, fine and gross motor skills including purposeful hand use, and communicative abilities. Individuals with RS also experience a host of other medical problems including seizures and respiratory dysfunction. Prior research demonstrates that caregivers of individuals with RS experience more stress than normative samples and that family functioning plays a role in maternal mental health. However, there is much that is not understood about how cognitive appraisals (thoughts that assess the circumstances), coping methods, and family functioning are related to caregiver adaptation in this population. This study is based on Thompson and colleagues Transactional Stress and Coping Model which conceptualizes family functioning and adaptation to being a caregiver of an individual with RS. A cross-sectional research design using quantitative methodology will explore the relationships between perceived illness burden, self-efficacy, coping methods, family functioning and adaptation. In addition, an open-ended section will be included to qualitatively describe the role of family relationships on the caregivers perception of their ability to care for their child with RS. Caregivers of individuals with RS will be recruited through an international RS organization, a national RS educational meeting, and several national RS clinics. Eligible participants will be able to complete a paper or online version of the survey.
- Conditions
- Rett Syndrome
- Keywords
- Rett Syndrome
- Medical subject headings
- Rett Syndrome
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 May 2009 (estimated)
- Study start24 Apr 2009
- Study completion13 Jan 2016
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 Rett SyndromeStudies 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
- Prospective
- Enrolment
- 426 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Barbara B Biesecker, Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00891956
- Sponsor's protocol ID
- 999909132
- Other IDs
- 09-HG-N132
- Status last verified
- 13 Jan 2016
- First submitted
- 30 Apr 2009
- Last updated
- 9 Dec 2019
- Results posted
- No
Publications
Hagberg B. Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr. 1995 Sep;84(9):971-6. doi: 10.1111/j.1651-2227.1995.tb13809.x.
PubMed 8652969Lotan M, Ben-Zeev B. Rett syndrome. A review with emphasis on clinical characteristics and intervention. ScientificWorldJournal. 2006 Dec 6;6:1517-41. doi: 10.1100/tsw.2006.249.
PubMed 17160339Weaving LS, Ellaway CJ, Gecz J, Christodoulou J. Rett syndrome: clinical review and genetic update. J Med Genet. 2005 Jan;42(1):1-7. doi: 10.1136/jmg.2004.027730.
PubMed 15635068
Study at a glance
From the registry record, last updated by the sponsor on 9 Dec 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
- ClinicalTrials.gov ID
- NCT00891956
- Acronym / sponsor ID
- 999909132
- Conditions
- Rett Syndrome
- Keywords
- Rett Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 426 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 24 Apr 2009
- Study completion
- 13 Jan 2016
- First posted
- 1 May 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:
- Rett syndrome (RS) is a panethnic (affecting all ethnicities) neurodevelopmental (impairment of the growth and development of the brain) disorder affecting primarily females. RS is characterized by the loss of intellectual functioning, fine and gross motor skills, and communicative abilities after a period of seemingly normal development.
- Caregivers of individuals with RS face many psychosocial challenges. The stressors can be grouped into the following six categories: emotional difficulties, health-related stressors, uncertainty about their daughter s illness, rejection by their social environment, lack of available or competent experts, and unfavorable comparison with healthy children.
- Researchers are making a significant contribution to the adaptation literature with a focus on family functioning and to the little psychosocial research that exists on families with RS.
- Researchers hope to narrow down the most important areas on which to focus for intervention strategies in families with RS.
Objectives:
- To describe family functioning, perceived illness burden, self-efficacy, types of coping methods, and adaptation in caregivers of individuals with RS to examine the relationships between these variables and the outcomes of family functioning and adaptation.
- To examine the extent to which appraisals of being a caregiver of an individual with RS and methods of coping are associated with family functioning.
- To examine the extent to which appraisals of being a caregiver of an individual with RS, methods of coping, and family functioning are associated with caregiver adaptation.
Eligibility:
- Eligibility is based on answering yes to the following three questions: Are you 18 years old or older? Are you the caregiver of a child diagnosed with Rett Syndrome? and Does the child with Rett Syndrome currently reside in your home with you?
Design:
- Participants in this cross-sectional research design will answer a quantitative survey that includes some open-ended questions. The cross-sectional study involves a one-time self-administered questionnaire that takes approximately 20 to 30 minutes to complete.
- The survey will be available in paper and electronic versions and includes demographics questions, measures of perceived illness burden, parental self-efficacy, coping methods, family functioning, and adaptation. Participants also will answer open-ended questions related to the individual s diagnosis.
- Participants may withdraw from the study at any point up until submission of the survey and may skip any question.
- Participants who experience psychological distress as a result of taking the survey are advised to contact the researcher. Study coordinators at the various clinics from which participants will be recruited will be notified of the possibility of adverse events and instructed to direct any members who experience distress to the appropriate professional services.
- Participants will receive a small financial compensation for completing the survey.
Detailed description
This study aims to investigate the predictors of family functioning and adaptation in caregivers of individuals with Rett Syndrome (RS), a neurodevelopmental disorder affecting primarily females. After an apparently normal prenatal and postnatal period of development, individuals with RS lose intellectual functioning, fine and gross motor skills including purposeful hand use, and communicative abilities. Individuals with RS also experience a host of other medical problems including seizures and respiratory dysfunction. Prior research demonstrates that caregivers of individuals with RS experience more stress than normative samples and that family functioning plays a role in maternal mental health. However, there is much that is not understood about how cognitive appraisals (thoughts that assess the circumstances), coping methods, and family functioning are related to caregiver adaptation in this population. This study is based on Thompson and colleagues Transactional Stress and Coping Model which conceptualizes family functioning and adaptation to being a caregiver of an individual with RS. A cross-sectional research design using quantitative methodology will explore the relationships between perceived illness burden, self-efficacy, coping methods, family functioning and adaptation. In addition, an open-ended section will be included to qualitatively describe the role of family relationships on the caregivers perception of their ability to care for their child with RS. Caregivers of individuals with RS will be recruited through an international RS organization, a national RS educational meeting, and several national RS clinics. Eligible participants will be able to complete a paper or online version of the survey.
Study design
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- The study population will consist of men and women ages 18 or older who are the primary caregivers of a child with Rett Syndrome.
- The parent may be a biological or adoptive parent or other primary caregiver and the child must reside with the primary caregiver.
- Individuals of all ethnic, religious, socioeconomic, and educational backgrounds and from a variety of geographic locations in the United States will be included.
Key exclusion criteria (1 listed)
- -Participants must be able to read and write in English, as it is essential for the researchers to be able to understand participants responses.
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 9 Dec 2019.
- Background: PubMed 8652969Hagberg B. Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr. 1995 Sep;84(9):971-6. doi: 10.1111/j.1651-2227.1995.tb13809.x.
- Background: PubMed 17160339Lotan M, Ben-Zeev B. Rett syndrome. A review with emphasis on clinical characteristics and intervention. ScientificWorldJournal. 2006 Dec 6;6:1517-41. doi: 10.1100/tsw.2006.249.
- Background: PubMed 15635068Weaving LS, Ellaway CJ, Gecz J, Christodoulou J. Rett syndrome: clinical review and genetic update. J Med Genet. 2005 Jan;42(1):1-7. doi: 10.1136/jmg.2004.027730.
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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)
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rett Syndrome, run by National Human Genome Research Institute (NHGRI) at 3 sites 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 3 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 9 Dec 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites 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 NCT00891956, 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 9 Dec 2019.