Viewing Study NCT00056186



Ignite Creation Date: 2024-05-05 @ 11:29 AM
Last Modification Date: 2024-10-26 @ 9:08 AM
Study NCT ID: NCT00056186
Status: COMPLETED
Last Update Posted: 2008-03-04
First Post: 2003-03-07

Brief Title: Transitional Life Events in Patients With Friedreichs Ataxia Implications for Genetic Counseling
Sponsor: National Human Genome Research Institute NHGRI
Organization: National Institutes of Health Clinical Center CC

Study Overview

Official Title: Exploration of Transitional Life Events in Individuals With Friedreichs Ataxia Implications for Genetic Counseling
Status: COMPLETED
Status Verified Date: 2004-01
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: None
Brief Summary: The purposes of this study are to learn about significant life changes for people with Friedreichs ataxia and about patients experiences with health care providers Friedreichs 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 Friedreichs 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 individuals 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 ie 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 Friedreichs 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 Friedreichs 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 Friedreichs 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 ie cardiology pediatrics neurology that provide continuing follow-up care to patients

Study Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: None
Is a FDA Regulated Device?: None
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None
Secondary IDs
Secondary ID Type Domain Link
03-HG-0118 None None None