Clinical trial NCT00684398: Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I
Official title: Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neurofibromatosis Type 1
Von Recklinghausen Disease
NF1
Keywords: Neurofibromatosis Type 1
Quality of Life
Adaptation
Stress and Coping Model
NF1
Survey
Lead sponsor: National Institutes of Health Clinical Center (CC)
Sponsor class: NIH
First posted: 2008-05-26
Enrollment: 645
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Time perspective: PROSPECTIVE

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....

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.

Eligibility 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.

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Bethesda
country: United States
facility: National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
state: Maryland
Study officials:
affiliation: National Human Genome Research Institute (NHGRI)
name: Barbara B Biesecker
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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. doi: 10.1007/s10897-007-9101-8. Epub 2007 Jul 17.
citation: Ablon J. The nature of stigma and medical conditions. Epilepsy Behav. 2002 Dec;3(6S2):2-9. doi: 10.1016/s1525-5050(02)00543-7.
citation: 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. doi: 10.1136/jmg.30.7.567.