Mutations in Genes Associated With Pentalogy of Cantrell or Non-Muscle Myosin II Syndromes

This study is currently recruiting participants. (see Contacts and Locations)
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: May 16, 2014
Last verified: January 2014

May 25, 2004
May 16, 2014
May 2004
Not Provided
Not Provided
Not Provided
Complete list of historical versions of study NCT00083499 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Mutations in Genes Associated With Pentalogy of Cantrell or Non-Muscle Myosin II Syndromes
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 (POC) and other inherited diseases that may involve mutations in non-muscle myosin II-B heavy chain (MYH10). We will also collect samples from the relatives of affected individuals. POC 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 are apparent before birth or at birth.

Participants may undergo a medical evaluation that could include a medical history routine blood tests, urine collection, chest x-ray, and electrocardiogram. In addition, blood, urine, saliva, buccal swab or tissue samples may be 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. In addition, tissue samples may be collected from patients if they undergoing any surgical procedures 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 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.

Observational
Not Provided
Not Provided
Not Provided
Not Provided
Not Provided
  • Inborn Genetic Diseases
  • Pentalogy of Cantrell
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
50
Not Provided
Not Provided
  • 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

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.

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.

Both
Not Provided
No
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
Israel,   United States
 
NCT00083499
040202, 04-H-0202
Not Provided
Not Provided
National Heart, Lung, and Blood Institute (NHLBI)
Not Provided
Principal Investigator: Robert S Adelstein, M.D. National Heart, Lung, and Blood Institute (NHLBI)
National Institutes of Health Clinical Center (CC)
January 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP