Tissue Specimen Collection for Study of Inherited Diseases Involving Non-muscle Gene Mutations
|First Received Date ICMJE||May 25, 2004|
|Last Updated Date||November 27, 2013|
|Start Date ICMJE||May 2004|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00083499 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Tissue Specimen Collection for Study of Inherited Diseases Involving Non-muscle Gene Mutations|
|Official Title ICMJE||Mutations in Genes Associated With Pentalogy of Cantrell or Non-Muscle Myosin II Syndromes|
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 myosin 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 before birth or at birth. If the mutant gene is identified in the patient tissue samples will also be collected from relatives of the 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.
The purpose of this protocol is to collect protein, DNA, and RNA from blood, sputum, urine and/or tissue samples from patients with the diagnosis of Pentalogy of Cantrell (POC) or other related syndromes that could involve mutation of any of the genes encoding nonmuscle myosin heavy or light chains. In the case of patients with the diagnosis of POC, we will also be looking for any exomic/genomic mutations that could be associated with this syndrome. We have produced a mouse model with the mutant mice exhibiting problems with ventral wall closure including extrathoracic location of the heart (ectopia cordis), and defects in the abdominal wall with protrusion of the guts and liver. The mice have severe defects in both the heart and brain, and resemble humans born with POC, who manifest these same abnormalities.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Not Provided|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||50|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
At the Clinical Center-Those subjects that are greater than or equal to 2 years of age and older.
ii. Relatives of Index Cases
At the Clinical Center - Those subjects that are greater than or equal to 2 years of age and older.
iii. Fetal tissue:
Subjects seen at the Clinical Center - Those subjects that are less than or equal to 2 years of age and older.
|Ages||2 Years and older|
|Accepts Healthy Volunteers||No|
|Location Countries ICMJE||United States, Israel|
|NCT Number ICMJE||NCT00083499|
|Other Study ID Numbers ICMJE||040202, 04-H-0202|
|Has Data Monitoring Committee||Not Provided|
|Responsible Party||Not Provided|
|Study Sponsor ICMJE||National Heart, Lung, and Blood Institute (NHLBI)|
|Collaborators ICMJE||Not Provided|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||February 2013|
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