Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling
Primary Purpose
Friedreich Ataxia
Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
About this trial
This is an observational trial for Friedreich Ataxia focused on measuring Adaptation, Neurodegenerative, Health Care Provider, Psychosocial, Chronic Illness/Disability, Friedreich's Ataxia, Friedreich Ataxia, FA
Eligibility Criteria
INCLUSION CRITERIA: Any individual diagnosed with Friedreich's ataxia, 18 years of age or older, who speaks English and is either in attendance at the NAF conference, or who has access to a telephone. EXCLUSION CRITERIA: Adolescents and children under the age of 18. Children and adolescents will be excluded due to the potiential for increased psychological and/or emotional.
Sites / Locations
- National Human Genome Research Institute (NHGRI)
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00056186
First Posted
March 7, 2003
Last Updated
March 3, 2008
Sponsor
National Human Genome Research Institute (NHGRI)
1. Study Identification
Unique Protocol Identification Number
NCT00056186
Brief Title
Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling
Official Title
Exploration of Transitional Life Events in Individuals With Friedreich's Ataxia: Implications for Genetic Counseling
Study Type
Observational
2. Study Status
Record Verification Date
January 2004
Overall Recruitment Status
Completed
Study Start Date
March 2003 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
January 2004 (undefined)
3. Sponsor/Collaborators
Name of the Sponsor
National Human Genome Research Institute (NHGRI)
4. Oversight
5. Study Description
Brief Summary
The purposes of this study are to learn about significant life changes for people with Friedreich's ataxia and about patients' experiences with health care providers. Friedreich's ataxia is a rare genetic disorder in which patients experience progressive muscle weakness and loss of coordination in the arms and legs. They may have other complications, such as vision and hearing impairment, dysarthria, scoliosis, diabetes, and heart disease. The study will explore the impact of this chronic progressive illness on transitional life events, such as career choice and marriage, and the role of family members and health care providers-particularly genetic counselors-in helping patients progress through these events.
Patients with Friedreich's ataxia who are 18 years of age or older may be eligible for this study. Those enrolled will participate in a 45- to 60-minute interview by phone or in person, in which they will be asked questions about important changes in their lives and their past experiences with health care providers. The interview will be audiotaped.
Detailed Description
Human development across the lifespan is a process of continual change, adaptation and growth. Throughout this process, key transitional events, such as career choice and marriage, mark important points in time when an individual's life course is significantly altered. These transitional events may be instigated by age, historical or idiosyncratic factors. Of particular interest in the present study are patients' perceptions of transitional events brought about or altered by chronic illness and disability. Additionally, factors (i.e. social support, communication, family) that help facilitate progression through these events will be investigated. The actual or potential role of health care providers during transitional events will also be explored with a specific emphasis on genetic counseling. These themes will be examined through the administration of a one-time, semi-structured, in-person or telephone interview of patients with Friedreich's ataxia: a progressive, debilitating, neurodegenerative condition. The interviews will be approximately 45-60 minutes in length and will include open-ended questions to elicit qualitative data. Approximately 40 subjects will be recruited from Friedreich's ataxia support groups, a research organization and a clinical setting.
It is anticipated that data elicited from the study will lead to recommendations regarding the process and content of genetic counseling for individuals with Friedreich's ataxia. These considerations, coupled with qualitative data obtained from participants, may also have implications for the evolving role of the genetic counselor. Specifically, consideration of developmental counseling approaches, which emphasize key transitional events, may be particularly useful as genetic counselors become increasingly involved in subspecialties (i.e. cardiology, pediatrics, neurology) that provide continuing follow-up care to patients.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Friedreich Ataxia
Keywords
Adaptation, Neurodegenerative, Health Care Provider, Psychosocial, Chronic Illness/Disability, Friedreich's Ataxia, Friedreich Ataxia, FA
7. Study Design
Enrollment
40 (false)
10. Eligibility
Sex
All
Accepts Healthy Volunteers
No
Eligibility Criteria
INCLUSION CRITERIA:
Any individual diagnosed with Friedreich's ataxia, 18 years of age or older, who speaks English and is either in attendance at the NAF conference, or who has access to a telephone.
EXCLUSION CRITERIA:
Adolescents and children under the age of 18. Children and adolescents will be excluded due to the potiential for increased psychological and/or emotional.
Facility Information:
Facility Name
National Human Genome Research Institute (NHGRI)
City
Bethesda
State/Province
Maryland
ZIP/Postal Code
20892
Country
United States
12. IPD Sharing Statement
Citations:
PubMed Identifier
3358709
Citation
Beisecker AE, Cobb AK, Ziegler DK. Patients' perspectives of the role of care providers in amyotrophic lateral sclerosis. Arch Neurol. 1988 May;45(5):553-6. doi: 10.1001/archneur.1988.00520290089019.
Results Reference
background
PubMed Identifier
10995504
Citation
Bernhardt BA, Biesecker BB, Mastromarino CL. Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. Am J Med Genet. 2000 Sep 18;94(3):189-97. doi: 10.1002/1096-8628(20000918)94:33.0.co;2-e.
Results Reference
background
PubMed Identifier
8644377
Citation
Borreani C, Gangeri L. Genetic counselling: communication and psychosocial aspects. Tumori. 1996 Mar-Apr;82(2):147-50. doi: 10.1177/030089169608200209.
Results Reference
background
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Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling
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