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Study of Heritable Connective Tissue Disorders

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ClinicalTrials.gov Identifier: NCT00001641
Recruitment Status : Completed
First Posted : November 4, 1999
Last Update Posted : March 4, 2008
Information provided by:
National Institutes of Health Clinical Center (CC)

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.

Condition or disease
Connective Tissue Disease Dissecting Aneurysm Ehlers Danlos Syndrome Marfan Syndrome Nail Patella Syndrome

Detailed Description:
We will investigate the clinical manifestations and molecular genetic defects of heritable connective tissue disorders, concentrating on the Marfan, Stickler, and Ehlers-Danlos syndromes. Although each of these conditions has been known for many years, the full spectrum of the associated phenotypes continues to be expanded and the genetic etiology of these conditions has not been completely elucidated. In addition, many patients have features overlapping two or more of the described syndromes, precluding unequivocal diagnosis. The goals of this study are to further define and characterize the full phenotype and natural history of these disorders, and to perform genetic linkage, gene identification, mutation detection, and genotype/phenotype correlations in affected individuals and families. Individuals suspected to have Marfan, Stickler or Ehlers-Danlos syndrome or a closely related disorder, as well as interested family members, will be enrolled. Participants will undergo genetic analyses and periodic clinical assessment. The expected outcomes will be improved clinical descriptions of the conditions and gene and mutation identification with analysis of genotype/phenotype correlations.

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Study Type : Observational
Enrollment : 900 participants
Official Title: Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders
Study Start Date : March 1997
Study Completion Date : June 2002

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes


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.


Inability to provide informed consent.

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): NCT00001641

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United States, Maryland
National Human Genome Research Institute (NHGRI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
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ClinicalTrials.gov Identifier: NCT00001641    
Other Study ID Numbers: 970089
First Posted: November 4, 1999    Key Record Dates
Last Update Posted: March 4, 2008
Last Verified: June 2002
Keywords provided by National Institutes of Health Clinical Center (CC):
Marfan Syndrome
Stickler Syndrome
Aortic Dissection
Connective Tissue Disorders
Ehlers-Danlos Syndrome
Nail-Patella Syndrome
Additional relevant MeSH terms:
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Marfan Syndrome
Nail-Patella Syndrome
Ehlers-Danlos Syndrome
Nail Diseases
Aneurysm, Dissecting
Connective Tissue Diseases
Pathologic Processes
Vascular Diseases
Cardiovascular Diseases
Hemostatic Disorders
Hemorrhagic Disorders
Hematologic Diseases
Skin Abnormalities
Congenital 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
Limb Deformities, Congenital