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Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00056186
First received: March 7, 2003
Last updated: March 3, 2008
Last verified: January 2004

March 7, 2003
March 3, 2008
March 2003
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Complete list of historical versions of study NCT00056186 on ClinicalTrials.gov Archive Site
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Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling
Exploration of Transitional Life Events in Individuals With Friedreich's Ataxia: Implications for Genetic Counseling

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.

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.

Observational
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Friedreich Ataxia
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
40
January 2004
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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.

Both
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Contact information is only displayed when the study is recruiting subjects
United States
 
NCT00056186
030118, 03-HG-0118
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National Human Genome Research Institute (NHGRI)
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National Institutes of Health Clinical Center (CC)
January 2004

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP