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

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ClinicalTrials.gov Identifier: NCT00056186
Recruitment Status : Completed
First Posted : March 7, 2003
Last Update Posted : March 4, 2008
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)

Tracking Information
First Submitted Date March 7, 2003
First Posted Date March 7, 2003
Last Update Posted Date March 4, 2008
Study Start Date March 2003
Primary Completion Date Not Provided
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00056186 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
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
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.

Study Type Observational
Study Design Not Provided
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Not Provided
Study Population Not Provided
Condition Friedreich Ataxia
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Enrollment
 (submitted: June¬†23,¬†2005)
40
Original Enrollment Same as current
Study Completion Date January 2004
Primary Completion Date Not Provided
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.

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00056186
Other Study ID Numbers 030118
03-HG-0118
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Not Provided
Study Sponsor National Human Genome Research Institute (NHGRI)
Collaborators Not Provided
Investigators Not Provided
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date January 2004