Pentalogy of Cantrell Clinical Trial
Official title:
Human Disease With Mutation of Nonmuscle Myosin Heavy Chain Genes
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.
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 (muscle
which separates the chest from the abdomen), heart, and abdominal wall. The defects can
affect both males and females and is apparent at birth or shortly after.
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.
Enrollment in this study is entirely voluntary and the subject can elect to withdraw from
the study at any time. Each subject will receive an oral and written explanation of this
study and the purpose, procedures, and risks of this study in language that is
comprehensible. The Investigator will be available to answer any questions the subject may
have regarding the study. If the subject is a minor, the parent who signs the consent for
the minor must be the legally recognized parent or guardian. Where deemed appropriate, the
child will also be included in all discussions about the trial and a minor's assent will be
obtained. The parent or guardian will sign on the designated line on the informed consent
attesting to the fact that the child had given assent. If the minor child refuses to provide
assent, then participation in the study will not occur. Informed consent will be obtained by
the Investigator or designee, and a copy of the signed consent document will be given to the
subject and placed in the subject's medical record. Subjects may withdraw permission of use
of blood/tissue/urine specimens at any time.
Tissue and/or blood and/or urine samples from participating institutions that have
identified cases of Pentalogy of Cantrell and/or related syndromes will be collected. These
samples will be sent to the National Heart, Lung, and Blood Institute (NHLBI) for analysis
and kept for a period of 5 years, unless the subject withdraws permission during that
period. Standard methods will be used to collect the blood, tissue, and/or urine samples.
For example, blood samples will be obtained from routine blood drawing and tissue may be
obtained from previously obtained tissue secondary to surgery.
Samples that are sent to the NHLBI for analysis will have identifiers on them, so if new
information is discovered, the research subject may be contacted. All samples will be stored
in a locked storage facility to maximize patient confidentiality.
Anticipated Adverse Events are listed in the protocol and consent. Unanticipated Adverse
Events will be reported to the appropriate institutions. All serious adverse events will be
reported by the Investigator verbally and in writing to the Clinical Director and the NHLBI
IRB within the time frame set by the protocol. The nature of this study does not warrant a
DSMB, therefore the principal Investigator, Dr. Robert Adelstein will provide oversight of
the safety and data analysis of the conduct of this study.
The benefit of this study is discovery of the disease and the mutation that causes the
disease, therefore yielding generalizable knowledge regarding the disorder.
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Time Perspective: Prospective
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT00083499 -
Mutations in Genes Associated With Pentalogy of Cantrell
|
||
| Completed |
NCT02430376 -
dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell
|