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Home > "P" Clinical Trials Conditions > Pulmonary Hypertension--Mechanisms and Family Registry  Pulmonary Hypertension--Mechanisms and Family Registry
Pulmonary Hypertension--Mechanisms and Family Registry
For Condition: Lung Diseases,Hypertension, Pulmonary
Status: Completed
Sponsor(s): National Heart, Lung, and Blood Institute (NHLBI) ,
Synopsis: To establish a registry of primary pulmonary hypertension (PPH), a lethal disease which causes progressive obstruction of small pulmonary arteries and to investigate basic mechanisms of the disease.
Details: BACKGROUND: Primary pulmonary hypertension (PPH) is a serious disease of unknown cause in which small arteries in the lungs become obstructed. Mean survival is less than three years, and women develop PPH twice as commonly as men. It is familial (FPPH) in about 6 percent of cases. The National FPPH Registry was established in 1994 to collect and analyze family history and clinical data from PPH families to better characterize the disease phenotype as well as to identify the underlying genetic etiology. Through the collection of 72 families, FPPH has been shown to be inherited as an autosomal dominant disorder, with incomplete penetrance and genetic anticipation. Micro-satellite marker studies in six families have identified linkage to chromosome 2q31 without evidence of genetic heterogeneity. DESIGN NARRATIVE: The study establishes a national registry of familial PPH (FPPH). The primary goal of the family registry is to establish and expand the database of FPPH pedigrees to definitively establish the mode of inheritance of FPPH, which initial segregation analysis suggests is autosomal dominant. The FPPH family registry provides the framework for the linkage analysis of the molecular search for basic mechanisms of PPH. The investigators are developing a tissue bank for specimens (DNA and transformed lymphocytes) from families and patients with pulmonary hypertension, both for their investigations and as a national resource for other interested investigators. Their search uses three different approaches to investigate for a FPPH gene locus. First, they are performing karyotyping and high resolution chromosome studies to search for a chromosomal translocation, interstitial deletion, or inversion, the finding of which would implicate a specific gene locus. Second, they are pursuing the proposed association of human leukocyte antigen (HLA) tissue type with familial PPH in a parallel attempt to identify a related locus about which to perform an intensified molecular search, using regional mapping studies of closely linked markers. Finally, they are performing linkage analysis in selected PPH families which have the most informative inheritance patterns, using polymerase chain reaction (PCR) based microsatellite markers for selected candidate genes, including those for transforming growth factor beta, endothelin, beta globin, and HLA. An additional promising approach includes a search for linkage of FPPH to genes with GC-rich trinucleotide repeats, as has recently been successful for other diseases with genetic anticipation, including Fragile X syndrome, myotonic dystrophy, and Huntington's disease. The study was renewed in 1999 through 2003 to expand the registry in order to obtain enough PPH families to localize and clone the PPH gene, and support the DNA bank for these and further studies. Other goals include prospective and biochemical mediator studies of obligate gene carriers, who do not have clinically evident PPH. This aim will determine which mediators first become abnormal during developing PPH, and define the natural history of pre-symptomatic diseases. In addition, the registry will broaden its scope to include sporadic PPH patients, including those who have used appetite suppressant medications, who will be screened for gene mutations. The identification of the PPH gene and its mechanism of disease will provide pivotal knowledge about PPH, but its importance may be broader because PPH is an index disease with pathologic changes identical to those seen in vessels of many common diseases such as congenital heart or connective tissue diseases. Familial PPH demonstrates many unusual transmission characteristics, including incomplete penetrance and genetic anticipation, where the disease occurs at younger ages in subsequent generations. Genetic counseling will be provided, both as a service for PPH families, but also as a model to examine the impact on individuals and families who receive it, with special emphasis on the impact of incomplete penetrance and genetic anticipation. The only known biologic explanation of genetic anticipation is trinucleotide repeat expansion (TRE), which is currently recognized as the basis of 11 neurologic diseases. If TRE is found to be the molecular abnormality of the PPH gene, FPPH will be the first reported non-neurologic disease due to this mechanism. If another undiscovered mechanisms for genetic anticipation exists, it will have major implications for the understanding of human molecular biology. In the future the investigators will also research for modifier genes to explain the variable expression or course of disease.
Eligibility:
Study Type: Observational, Screening
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: No eligibility criteria
Total Enrollment:
Location and Contact Information:
Overall Study Official:
JamesLoyd, , Vanderbilt University
Additional Information:
Study ID Numbers: 4243;
Study Start Date: April 1994
Record last reviewed: April 2004
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00005357
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