Studies of Heritable Disorders of Connective Tissue

NCT00270686 | Completed

• 2 other identifiers: 99990333003-AG-N330
• Study Type: observational
• Target: 929
• Locations: 1 country
• Sites: 1

Brief Summary

Background: \- Heritable disorders of connective tissue are genetic conditions that can affect the skin and other parts of the body. They are related to mutations in genes that are responsible for building tissues. The symptoms differ among disorders. Researchers want to study which genes may be responsible for different disorders. They will be performing a long-term (up to 10 years) study and a study that requires a single visit. These studies will look at how these disorders affect the body and what genes may cause these conditions. Objectives: \- To perform one-time and long-term studies of people who have heritable disorders of connective tissue. Eligibility: \- Individuals at least 2 years of age who have or may have a heritable disorder of connective tissue. Design:

• Participants will be screened with a physical exam, medical history, and blood samples.
• Participants will be on one of two parts of this study. The longitudinal arm will require long-term study over about 10 years. The mutational analysis arm will involve a single visit.
• Longitudinal arm participants must be at least 12 years of age. They will have study visits at regular intervals for up to 10 years. The tests given at these visits may include all or some of the following:
• Blood, saliva, urine, and skin samples
• Heart and lung function tests
• Magnetic resonance imaging scans of the neck, chest, spine, and abdomen
• Other imaging studies such as x-rays, bone density scans, and ultrasounds
• Questionnaires about sleep, pain, and quality of life
• Photographs of affected areas.
• Mutational analysis arm participants will have a single study visit. They will provide blood and saliva samples. They will provide tissue from a skin biopsy. They will also let the researchers take photos of any affected body parts. They will complete questionnaires about sleep, pain, and quality of life.

Conditions

Ehlers-Danlos Syndrome; Stickler Syndrome; Marfan Syndrome

Keywords

Ehlers-Danlos Syndrome; Stickler Syndrome; Marfan Syndrome; Genetics; Aneurysm

Outcome Measures

Primary Outcomes (4)

• Description of natural history of Hereditary Disorders of Connective Tissue (HDCT)

  Ongoing

• Genetic analysis to identify novel genes that cause HDCT

  Ongoing

• Biochemical analysis of biospecimens to identify correlations with disease activity and progress

  Ongoing

• Identification of disease treatment targets

  Ongoing

Eligibility Criteria

• Age: 2 Years+
• 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 an established or suspected diagnosis of Marfan, Stickler, or Ehlers-Danlos syndrome, or Overlap connective tissue disorder.
• Determination of eligibility will be made by review of prior records.
• In some cases, a screening evaluation to establish the diagnosis may be performed subjects may be excluded from further participation if the diagnosis is ruled out. Cytogenetic analysis may be necessary to rule out a chromosomal abnormality that has overlapping features with HDCT.

You may not qualify if:

• Pregnant and nursing women may be limited in their participation in some aspects of the study (e.g. ionizing radiation exposure or MRI) during the time that they are pregnant or nursing.

Sponsors & Collaborators

• National Institute on Aging (NIA): lead

Study Sites (1)

National Institute of Aging, Clinical Research Unit

Baltimore, Maryland, 21224, United States

Location

Related Publications (3)

• Ainsworth SR, Aulicino PL. A survey of patients with Ehlers-Danlos syndrome. Clin Orthop Relat Res. 1993 Jan;(286):250-6.

  PMID: 8425354 BACKGROUND

• 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

• Buysse DJ, Reynolds CF 3rd, Monk TH, Berman SR, Kupfer DJ. The Pittsburgh Sleep Quality Index: a new instrument for psychiatric practice and research. Psychiatry Res. 1989 May;28(2):193-213. doi: 10.1016/0165-1781(89)90047-4.

  PMID: 2748771 BACKGROUND

MeSH Terms

Conditions

Ehlers-Danlos Syndrome; Stickler syndrome, type 1; Marfan Syndrome; Aneurysm

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; 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; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Heart Diseases; Abnormalities, Multiple

Study Officials

• Nazli B McDonnell, M.D.

  National Institute on Aging (NIA)

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: December 27, 2005
• First Posted: December 28, 2005
• Study Start: January 21, 2003
• Study Completion: January 2, 2015
• Last Updated: April 5, 2018

Record last verified: 2015-01-02

Locations

US (1)