Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia

NCT00684879 | Completed

• 2 other identifiers: 99990814308-HG-N143
• Study Type: observational
• Target: 320
• Locations: 1 country
• Sites: 1

Brief Summary

This study will explore the factors that influence screening behaviors of adults diagnosed with hereditary hemorrhagic telangiectasia (HHT), an inherited condition in which blood vessel defects called arteriovenous malformations (AVMs) result in direct connections between arteries and veins. Patients most commonly have small AVMs called telangiectases on the tongue, face, hands, mouth, and throat and the mucosal linings of the nose and gastrointestinal tract. Recurrent nosebleeds are a hallmark of the disease. Large AVMs can also occur in various organs, causing sudden and life-threatening complications. The study will examine how patients think and feel about their condition and what actions they take to screen for internal symptoms of the disease. Men and women 18 years of age and older who have HHT may be eligible for this study. Participants fill out a 30-minute questionnaire, available in print or online, that includes questions about the participant s

• beliefs about HHT
• actions taken to screen for internal symptoms of HHT
• experience with HHT
• current health status, family history and demographic information

Conditions

Osler-Rendu-Weber Disease; Osler-Rendu Disease; Telangiectasia, Hereditary Hemorrhagic

Keywords

Hereditary Hemorrhagic Telangiectasia; Health Belief Model; Illness Perceptions; Screening; HHT

Eligibility Criteria

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

You may qualify if:

• Men and women who self-report having a diagnosis of HHT.
• To read and write English.

You may not qualify if:

• Individuals younger than 18.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Human Genome Research Institute (NHGRI), 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Bayrak-Toydemir P, Mao R, Lewin S, McDonald J. Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians. Genet Med. 2004 Jul-Aug;6(4):175-91. doi: 10.1097/01.gim.0000132689.25644.7c.

  PMID: 15266205 BACKGROUND

• Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995 Oct 5;333(14):918-24. doi: 10.1056/NEJM199510053331407. No abstract available.

  PMID: 7666879 BACKGROUND

• Rand CS. Measuring adherence with therapy for chronic diseases: implications for the treatment of heterozygous familial hypercholesterolemia. Am J Cardiol. 1993 Sep 30;72(10):68D-74D. doi: 10.1016/0002-9149(93)90014-4.

  PMID: 8213501 BACKGROUND

MeSH Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Telangiectasis; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Vascular Malformations; Cardiovascular Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Barbara B Biesecker

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 24, 2008
• First Posted: May 28, 2008
• Study Start: May 21, 2008
• Study Completion: January 7, 2016
• Last Updated: November 25, 2019

Record last verified: 2016-01-07

Locations

US (1)