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

NCT00056186 | Completed

• 2 other identifiers: 03011803-HG-0118
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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.

Conditions

Friedreich Ataxia

Keywords

Adaptation; Neurodegenerative; Health Care Provider; Psychosocial; Chronic Illness/Disability; Friedreich's Ataxia; Friedreich Ataxia; FA

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• Adolescents and children under the age of 18. Children and adolescents will be excluded due to the potiential for increased psychological and/or emotional.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Human Genome Research Institute (NHGRI)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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.

  PMID: 3358709 BACKGROUND

• 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.

  PMID: 10995504 BACKGROUND

• Borreani C, Gangeri L. Genetic counselling: communication and psychosocial aspects. Tumori. 1996 Mar-Apr;82(2):147-50. doi: 10.1177/030089169608200209.

  PMID: 8644377 BACKGROUND

MeSH Terms

Conditions

Friedreich Ataxia; Chronic Disease

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: March 7, 2003
• First Posted: March 7, 2003
• Study Start: March 1, 2003
• Study Completion: January 1, 2004
• Last Updated: March 4, 2008

Record last verified: 2004-01

Locations

US (1)