NIH Clinical Research Studies

Protocol Number: 04-H-0202

Active Accrual, Protocols Recruiting New Patients

Title:
Human Diseases with Mutation of Non-Muscle Myosin Heavy Chain Genes
Number:
04-H-0202
Summary:
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.

Sponsoring Institute:
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Participants currently recruited/enrolled
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): None

Eligibility Criteria:
INCLUSION CRITERIA:

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.

Special Instructions:
Currently Not Provided
Keywords:
Pental of Cantrell
TAS Syndrome
Midline Defects
Contractile Proteins
Herniation
Recruitment Keyword(s):
Pentalogy of Cantrell
Non-muscle Myosin Heavy Chain Genes
Condition(s):
Inborn Genetic Diseases
Pentalogy of Cantrell
Investigational Drug(s):
None
Investigational Device(s):
None
Intervention(s):
None
Supporting Site:
National Heart, Lung and Blood Institute

Contact(s):
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):
Deutsch S, Rideau A, Bochaton-Piallat ML, Merla G, Geinoz A, Gabbiani G, Schwede T, Matthes T, Antonarakis SE, Beris P. Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. Blood. 2003 Jul 15;102(2):529-34. Epub 2003 Mar 20.

Ghiggeri GM, Caridi G, Magrini U, Sessa A, Savoia A, Seri M, Pecci A, Romagnoli R, Gangarossa S, Noris P, Sartore S, Necchi V, Ravazzolo R, Balduini CL. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis. 2003 Jan;41(1):95-104.

Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, Inoue C, Kamiya T, Saito H. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest. 2003 Jan;83(1):115-22.

Active Accrual, Protocols Recruiting New Patients

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