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

March 3, 2008 updated by: National Human Genome Research Institute (NHGRI)

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

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

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
40

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Human Genome Research Institute (NHGRI)

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
National Human Genome Research Institute (NHGRI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
March 1, 2003

Study Completion

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
January 1, 2004

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
March 7, 2003

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 6, 2003

First Posted (Estimate)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
March 7, 2003

Study Record Updates

Last Update Posted (Estimate)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
March 4, 2008

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 3, 2008

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
January 1, 2004

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 030118
  • 03-HG-0118

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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