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Sponsored by: |
National Heart, Lung, and Blood Institute (NHLBI) |
Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00083499 |
This study will collect blood, urine, and other tissue samples from patients with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes. Pentalogy of Cantrell is a very rare disorder in which patients have a combination of severe defects of the middle of the chest including the sternum (breastbone), diaphragm, heart, and abdominal wall. The defect is apparent at birth or shortly after. Tissue samples will also be collected from relatives of patients.
Participants undergo a medical evaluation that may include a medical history routine blood tests, urine collection, chest x-ray, and electrocardiogram. In addition, blood and urine samples are collected for protein and gene studies. The blood is drawn through a very small needle placed in an arm vein. Children may choose to have a buccal (cheek) sample taken instead of blood draw. Buccal samples can be collected by a cheek swab, in which a soft brush is rubbed on the inside lining of the mouth, or by having the child hold a tablespoon of mouthwash in his or her mouth for a full minute and then spit the mouthwash into a container.
Other tissue samples may be collected from patients at the time of any surgical procedure that may be required as part of their general medical care.
Some of the cells obtained from patients or their relatives may be used to establish cell lines (a living tissue sample) that can be grown in the laboratory and used for experiments.
Condition |
Inborn Genetic Diseases Pentalogy of Cantrell |
ChemIDplus related topics: | Pentobarbital Pentobarbital sodium |
Study Type: | Observational |
Official Title: | Human Diseases With Mutation of Non-Muscle Myosin Heavy Chain Genes |
Estimated Enrollment: | 50 |
Study Start Date: | May 2004 |
The purpose of this protocol is to collect protein, DNA, and RNA from blood and/or tissue samples as well as urine samples of patients with Pentalogy of Cantrell or other diseases that could involve mutation of any of the genes encoding nonmuscle myosin heavy chains (NMHC IIA on chromosome 22, IIB on chromosome 17 or IIC on chromosome 19). Mutation of nonmuscle myosin IIA have been shown to result in human defects involving blood platelets, kidney, hearing and sight (Epstein's Syndrome, May-Hegglin/Fechtner Syndrome). Defects in patients with mutations in nonmuscle myosin IIB are not known yet. However, we have produced a putative mouse model with the mutant mice exhibiting problems with ventral wall closure, and extrathoracic location of heart (ectopia cordis), guts and liver. The mice had severe defects in both the heart and brain, and resemble humans born with the syndrome Pentalogy of Cantrell, who manifest these same abnormalities. With respect to the recently discovered nonmuscle myosin IIC, we are currently in the process of making a mouse model.
Ages Eligible for Study: | 2 Years and older |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Those patients who have Pentalogy of Cantrell (as defined under STUDY DESIGN) or other diseases that could involve mutation of any of the nonmuscle myosin genes that will be defined in future amendments.
Outside Institutions- All ages will be included
At the Clinical Center-Those subjects that are greater than or equal to 2 years of age and older.
Mouse model suggests that humans with Pentalogy of Cantrell may have defects in the nonmuscle myosin IIB gene. These patients are born with an omphalocoele, diaphragmatic hernia, ectopia cordis and other defects. During the correction of some of these defects, tissue is removed during birth and we hope to obtain some of this tissue. As for patients with mutation of nonmuscle myosin IIA, the defects involve blood platelets, kidney, hearing and sight and we can obtain samples from adults. Defects in patients with mutations in nonmuscle myosin IIB are not known yet and, therefore, we do not know if we will need samples from children.
We may obtain samples from family members and/or relatives of those individuals who have mutations for genotyping and/or the analysis of proteins or DNA/RNA in the future. Only family members who have a myosin IIB mutation will be further examined.
Patients and family who have the genotype of interest will undergo examination as listed above under Baseline Evaluation for Screening.
EXCLUSION CRITERIA :
In screening for subjects who may be asymptomatic, but who could be carrying the gene, we will exclude all children under the age of 2.
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, California | |||||
University of California, San Francisco | Recruiting | ||||
San Francisco, California, United States, 94143-0720 | |||||
United States, Georgia | |||||
Emory University Children's Center/Children's Healthcare of Atlanta | Recruiting | ||||
Atlanta, Georgia, United States | |||||
United States, Maryland | |||||
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting | ||||
Bethesda, Maryland, United States, 20892 | |||||
United States, Massachusetts | |||||
Brigham and Women's Hospital | Recruiting | ||||
Boston, Massachusetts, United States, 02115 | |||||
United States, Ohio | |||||
Cincinnati Children's Hospital Medical Center | Recruiting | ||||
Cincinnati, Ohio, United States, 45229-3039 | |||||
United States, Texas | |||||
University of Texas Southwestern Medical Center | Recruiting | ||||
Dallas, Texas, United States, 75390 | |||||
United States, Wisconsin | |||||
Children's Hospital of Wisconsin | Recruiting | ||||
Milwaukee, Wisconsin, United States, 53201-1997 | |||||
Israel | |||||
Ben Gurion University | Recruiting | ||||
Beersheva, Israel, 84105 | |||||
Puerto Rico | |||||
University of Puerto Rico Medical Sciences Campus | Recruiting | ||||
San Juan, Puerto Rico |
NIH Clinical Center Detailed Web Page 
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Study ID Numbers: | 040202, 04-H-0202 |
First Received: | May 25, 2004 |
Last Updated: | July 18, 2008 |
ClinicalTrials.gov Identifier: | NCT00083499 |
Health Authority: | United States: Federal Government |
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