Study of Heritable Connective Tissue Disorders

NCT00001641 | Completed

• 2 other identifiers: 97008997-HG-0089
• Study Type: observational
• Target: 900
• Locations: 1 country
• Sites: 1

Brief Summary

The purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause. It will investigate whether specific gene changes cause specific medical problems and will establish diagnostic criteria (signs and symptoms) for the individual syndromes. Children and adults with a known or suspected inherited connective tissue disorder (Marfan, Ehlers-Danlos or Stickler syndrome, or other closely related disorders) and their family members may be eligible for this study. Patients enrolled in the study will have a medical history, physical examination and blood tests, as well as other procedures that may include:

• Echocardiogram (ultrasound of the heart)
• X-rays and other imaging studies, such as magnetic resonance imaging (MRI) or computerized tomography (CT) scans
• Lung function studies
• Urine tests
• Skin biopsy (removal of a small piece of tissue, under local anesthetic, for microscopic examination)
• Examination by various specialists (e.g., in ophthalmology, gastroenterology, rehabilitation medicine) as needed
• Questionnaires regarding chronic pain and fatigue, quality of life, and the impact of the connective tissue disorder on the patient and family. (Patients who wish to enroll but cannot travel to NIH may have a more limited participation, including review of medical records, telephone interview regarding personal and family history, and collection of a specimen (blood, skin biopsy, or other) for genetic testing. Patients will be notified of genetic testing results that show a change responsible for their connective tissue disorder. If they wish, the information will also be sent to their local health care provider, along with recommendations for additional tests or treatment options. No treatment is offered as part of this study. Participating family members who do not themselves have a connective tissue disorder will provide a small blood sample for gene testing and be interviewed by telephone about their personal and family health history. Those whose blood test results show a gene change associated with a connective tissue disorder will be invited to NIH for a discussion of the findings or referred to a genetic center in their area.

Conditions

Connective Tissue Disease; Dissecting Aneurysm; Ehlers Danlos Syndrome; Marfan Syndrome; Nail Patella Syndrome

Keywords

Fibrillin; Collagen; Marfan Syndrome; Stickler Syndrome; Aortic Dissection; Ehlers-Danlos; Connective Tissue Disorders; Ehlers-Danlos Syndrome; Nail-Patella Syndrome

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Individuals and their family members will be offered enrollment if they have a suspected or established diagnosis of Marfan, Stickler, Ehlers-Danlos, or a closely related syndrome.
• Personal or family history of one or more of the following features in a pattern suggestive of a heritable connective tissue disorder:
• Marfanoid body habitus;
• Aortic dilatation and/or dissection;
• Ectopia lentis, detached retina, vitreous degeneration and/or early onset high myopia;
• Posterior cleft palate; joint laxity and/or dislocation;
• Premature osteoarthritis;
• Skin fragility, striae, easy bruisability and/or hyperextensibility;
• Pectus excavatum or carinatum;
• Scoliosis, spondylolisthesis, and/or dural ectasia;
• High frequency sensorineural hearing loss.

You may not qualify if:

• Inability to provide informed consent.

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)

• Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, Hall JG, Hollister DW, Horton W, McKusick VA, et al. International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. Am J Med Genet. 1988 Mar;29(3):581-94. doi: 10.1002/ajmg.1320290316. No abstract available.

  PMID: 3287925 BACKGROUND

• Cutting GR, Kazazian HH Jr, Antonarakis SE, Killen PD, Yamada Y, Francomano CA. Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34. Genomics. 1988 Oct;3(3):256-63. doi: 10.1016/0888-7543(88)90086-9.

  PMID: 3224982 BACKGROUND

• Dietz HC, Pyeritz RE, Hall BD, Cadle RG, Hamosh A, Schwartz J, Meyers DA, Francomano CA. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3. Genomics. 1991 Feb;9(2):355-61. doi: 10.1016/0888-7543(91)90264-f.

  PMID: 2004786 BACKGROUND

MeSH Terms

Conditions

Connective Tissue Diseases; Aortic Dissection; Ehlers-Danlos Syndrome; Marfan Syndrome; Nail-Patella Syndrome; Arachnodactyly; Stickler syndrome, type 1

Condition Hierarchy (Ancestors)

Skin and Connective Tissue Diseases; Dissection, Blood Vessel; Aneurysm; Vascular Diseases; Cardiovascular Diseases; Acute Aortic Syndrome; Aortic Diseases; Hemostatic Disorders; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Collagen Diseases; Skin Diseases; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Heart Diseases; Abnormalities, Multiple; Joint Diseases; Nail Diseases; Limb Deformities, Congenital; Musculoskeletal Abnormalities

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: November 4, 1999
• Study Start: March 1, 1997
• Study Completion: June 1, 2002
• Last Updated: March 4, 2008

Record last verified: 2002-06

Locations

US (1)