Trial record 12 of 86 for:    Chest X Ray | Open Studies | NIH, U.S. Fed

Tissue Specimen Collection for Study of Inherited Diseases Involving Non-muscle Gene Mutations

This study is currently recruiting participants.
Verified January 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00083499
First received: May 25, 2004
Last updated: March 14, 2014
Last verified: January 2014
  Purpose

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.


Condition
Inborn Genetic Diseases
Pentalogy of Cantrell

Study Type: Observational
Official Title: Mutations in Genes Associated With Pentalogy of Cantrell or Non-Muscle Myosin II Syndromes

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 50
Study Start Date: May 2004
Detailed Description:

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.

  Eligibility

Ages Eligible for Study:   2 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

    i. Index Cases

    1. Those patients who have a diagnosis of POC or other related syndromes (as defined under Study Design) confirmed by telephone discussion between the investigators and the patient s physician.
    2. 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.

ii. Relatives of Index Cases

  1. We may obtain samples from family members and/or relatives of those individuals who have a diagnosis of POC or other related syndrome confirmed by telephone discussion between the investigators and the referring physician with knowledge of the index case.
  2. 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.

iii. Fetal tissue:

  1. We may obtain samples from patients with a fetal diagnosis of POC or other related syndrome with diagnosis confirmed by telephone discussion between the investigators and the referring physician.
  2. Research use of the fetal tissue under the following conditions only:

    1. No profits will be involved;
    2. NIH researchers will have no involvement in the termination of pregnancy, and
    3. The tissue must be obtained in accordance with state and local law.

EXCLUSION CRITERIA:

Subjects seen at the Clinical Center - Those subjects that are less than or equal to 2 years of age and older.

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00083499

Contacts
Contact: Marlene Peters-Lawrence, R.N. (301) 443-6144 mpeters@nhlbi.nih.gov
Contact: Robert S Adelstein, M.D. (301) 496-1865 adelster@nhlbi.nih.gov

Locations
United States, California
University of California, San Francisco Recruiting
San Francisco, California, United States, 94143-0720
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
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
Israel
Ben Gurion University Recruiting
Beersheva, Israel, 84105
Sponsors and Collaborators
Investigators
Principal Investigator: Robert S Adelstein, M.D. National Heart, Lung, and Blood Institute (NHLBI)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00083499     History of Changes
Other Study ID Numbers: 040202, 04-H-0202
Study First Received: May 25, 2004
Last Updated: March 14, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Pental of Cantrell
TAS Syndrome
Midline Defects
Contractile Proteins
Herniation
Nonmuscle Myosin IIC
Pentalogy of Cantrell
Non-muscle Myosin Heavy Chain Genes

Additional relevant MeSH terms:
Genetic Diseases, Inborn
Pentalogy of Cantrell
Neural Tube Defects
Nervous System Malformations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities

ClinicalTrials.gov processed this record on April 17, 2014