Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I

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ClinicalTrials.gov Identifier: NCT00684398

Recruitment Status : Completed

First Posted : May 26, 2008

Last Update Posted : June 20, 2018

Sponsor:

Information provided by (Responsible Party):

National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Study Description

Brief Summary:

This study aims to understand predictors of adaptation and quality of life among adults affected with neurofibromatosis type 1 (NF1) and autosomal dominant neurocutaneous condition. NF1 carries a significant psychosocial burden for affected individuals. Aspects of NF1 that are especially challenging include the unpredictable nature of the disease, variability in severity of symptoms and medical complications, uncertainty in progression, and vulnerability to stigmatization due to the highly visible and often cosmetically disfiguring features of the condition. The literature suggests that because of these and other challenges posed by NF1, affected individuals may struggle to adapt to their condition and, consequently, experience poor quality of life. In this study, Lazarus and Folkman s Tranactional Model of Stress and Coping is used as a framework to conceptualize adaptation and quality of life to NF1. A cross-sectional design with quantitative methodology will be employed to investigate the relationships of appraisals and stigma as predictors of adaptation and quality of life. Adults affected with NF1 will be recruited via regional and national NF organizations and websites, as well as through ongoing NIH clinical research protocols for NF1. Eligible participants will be invited to complete a web-based, self-administered survey.

Condition or disease
Neurofibromatosis Type 1 Von Recklinghausen Disease NF1

Detailed Description:

This study aims to understand predictors of adaptation and quality of life among adults affected with neurofibromatosis type 1 (NF1) and autosomal dominant neurocutaneous condition. NF1 carries a significant psychosocial burden for affected individuals. Aspects of NF1 that are especially challenging include the unpredictable nature of the disease, variability in severity of symptoms and medical complications, uncertainty in progression, and vulnerability to stigmatization due to the highly visible and often cosmetically disfiguring features of the condition. The literature suggests that because of these and other challenges posed by NF1, affected individuals may struggle to adapt to their condition and, consequently, experience poor quality of life. In this study, Lazarus and Folkman s Transactional Model of Stress and Coping is used as a framework to conceptualize adaptation and quality of life to NF1. A cross-sectional design with quantitative methodology will be employed to investigate the relationships of appraisals and stigma as predictors of adaptation and quality of life. Adults affected with NF1 will be recruited via regional and national NF organizations and websites, as well as through ongoing NIH clinical research protocols for NF1. Eligible participants will be invited to complete a web-based, self-administered survey.

Study Design


Study Type :	Observational
Actual Enrollment :	645 participants
Time Perspective:	Prospective
Official Title:	Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I
Study Start Date :	May 15, 2008
Study Completion Date :	November 27, 2015

Resource links provided by the National Library of Medicine

Genetics Home Reference related topics: Neurofibromatosis type 1 Neurofibromatosis type 2

MedlinePlus related topics: Neurofibromatosis

Genetic and Rare Diseases Information Center resources: Neurofibromatosis Neurofibromatosis Type 1 Neurofibroma

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:	18 Years and older (Adult, Older Adult)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

Criteria

INCLUSION CRITERIA:

Adult men and women at least 18 years of age who self-report as having NF1.

Participants must be able to read and write in English.

Individuals of all ethnic, religious, socioeconomic, and educational backgrounds and from a variety of geographic locations in the United States will be included.

EXCLUSION CRITERIA:

Children under the age of 18.

Inability to read and write in English.

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00684398

Locations


United States, Maryland
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Human Genome Research Institute (NHGRI)

Investigators


Principal Investigator:	Barbara B Biesecker	National Human Genome Research Institute (NHGRI)

More Information

Publications:

Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G. Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2007 Aug;16(4):387-407. Epub 2007 Jul 17. Review.

Ablon J. The nature of stigma and medical conditions. Epilepsy Behav. 2002 Dec;3(6S2):2-9.

Benjamin CM, Colley A, Donnai D, Kingston H, Harris R, Kerzin-Storrar L. Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and families. J Med Genet. 1993 Jul;30(7):567-74.


Responsible Party:	National Human Genome Research Institute (NHGRI)
ClinicalTrials.gov Identifier:	NCT00684398 History of Changes
Other Study ID Numbers:	999908144 08-HG-N144
First Posted:	May 26, 2008 Key Record Dates
Last Update Posted:	June 20, 2018
Last Verified:	November 27, 2015

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):


Neurofibromatosis Type 1 Quality of Life Adaptation	Stress and Coping Model NF1 Survey

Additional relevant MeSH terms:


Neurofibromatoses Neurofibromatosis 1 Neurofibroma Nerve Sheath Neoplasms Neoplasms, Nerve Tissue Neoplasms by Histologic Type Neoplasms Neoplastic Syndromes, Hereditary Neurocutaneous Syndromes	Nervous System Diseases Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Genetic Diseases, Inborn Peripheral Nervous System Diseases Neuromuscular Diseases Peripheral Nervous System Neoplasms Nervous System Neoplasms

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