Genes Mutation Pentalogy of Cantrell

Withdrawn before enrolling

Conditions studied: Pentalogy of Cantrell, Mutations in Non-muscle Genes

In brief

This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes. Mutations in non-muscle genes have been shown to result in human defects involving blood platelets, kidney, hearing and sight. The major objective of this protocol is to study a variety of blood, tissue and urine samples by looking at protein, DNA, and RNA in those collected samples.

Key facts

Study ID

NCT00477932

Run by

Children's Healthcare of Atlanta

People needed

0

Starts

2006-03-01

Expected to finish

2012-01-01

Last updated by the study team

2014-12-17

Who can join

Age: 2 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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 > 2 years of age and older

You may not qualify if…

• screening for subjects who may be asymptomatic, but who could be carrying the gene
• we will exclude all children under the age of 2

Where it is running

• Children's Healthcare of Atlanta — Atlanta, Georgia, United States

Full record on ClinicalTrials.gov

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