View Clinical Trial (Medical Research Study)
The Clinical Study of Patients With Y Chromosome Variants
| City: |
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Bethesda |
| State: |
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Maryland |
| Zip Code: |
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20892 |
| Conditions: |
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Male Factor Infertility - Female Factor Infertility - Turner Syndrome |
| Purpose: |
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Background:
- 10% of couples has difficulty having children. The term infertility' is used when a
couple tries to have a child and is unable to get pregnant within 1 year, or is unable to
carry a pregnancy to 20 weeks for three or more pregnancies. The causes of infertility
include issues involving both men and women. Some of the known causes are endometriosis;
decreases in fertility due to aging; problems with the ovaries, fallopian tubes, or uterus;
and problems with the men's sperm. However, the genetic causes of infertility are not well
understood. Sometimes, infertility is related to chromosome differences in both men and
women. Chromosomes are the structures inside of each cell that carry our genetic material
(genes). Certain differences in the Y chromosome are known to cause infertility. However, it
is not known whether people with Y chromosome differences (missing or extra Y chromosome
material) have medical conditions other than infertility. This study is seeking to learn
whether persons with Y chromosome differences have other health issues in addition to
infertility.
Objectives:
- To study related medical conditions in people with a known genetic cause of infertility
related to the Y chromosome.
Eligibility:
- Individuals at least 18 years of age who have infertility related to Y chromosome
differences. Individuals must have participated in a previous research study run by Dr.
David C. Page at the Whitehead Institute in Cambridge, Massachusetts.
Design:
- Participants will be screened with a physical exam and medical history. Blood and urine
samples will be collected.
- This study will last about 4 to 5 days. Participants will have a variety of endocrine
and other tests. They will provide blood, urine, and semen samples for these tests. No
genetic tests will be done as a part of this study; however, DNA from participants will
be stored and may be used in future studies.
- Imaging studies of the heart and abdomen will be performed. These tests may include
ultrasounds and magnetic resonance imaging.
- Participants will also have their vision and hearing checked.
- Treatment will not be provided as part of this study.
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| Study Summary: |
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Infertility is a disease that affects approximately 10% of couples world-wide. Causes of
infertility are varied and include age-related decline in fecundity, other causes of
ovulatory dysfunction, tubal and pelvic pathology, male causes, idiopathic, and
multifactorial. The underlying genetic causes of infertility are incompletely understood.
The purpose of this study is to increase our understanding of the genetic and clinical
manifestations of infertility related to Ychromosome differences through detailed physical,
radiologic, and laboratory studies. We will concentrate on a group of patients (both male
and female) with known Y-chromosome variations and infertility previously identified by our
collaborator, Dr. David Page's lab. Patients recruited and consenting to this study will be
evaluated at the NIH Clinical Center.
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| Criteria: |
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- INCLUSION CRITERIA:
1. Patients previously identified through the Page lab as having Y-chromosome
variants causing deletion/duplication of Y-linked genes, male and female, with
infertility.
2. In the event that a patient with a Y-chromosome variant self-refers to the
protocol, medical records will be reviewed by a committee to include Dr. David
Page, Dr. Maximilian Muenke, and others to decide whether the patient is
appropriate for enrollment in the protocol.
EXCLUSION CRITERIA:
1. Anyone unwilling to provide informed consent or assent.
2. We reserve the right to exclude patients with medical conditions that would place a
potential participant at high risk of complications if managed at the NIH clinical
center (ex. dialysis dependency, unstable cardiac conditions, unstable severe
depression/suicidality).
3. We reserve the right to exclude cases that are clearly not related to Ychromosome
variants, infertility or our direct research interests (e.g. infertility with clearly
non-genetic etiology). This almost never happens, and we would attempt to make
referrals to a more appropriate investigator.
It is our intention to try to remove as many economic, cultural, geographic, racial, and
gender barriers as we reasonably can to promote a diverse participation of infertility
cases for research purposes.
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| NCT ID: |
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NCT01661010 |
| Primary Contact: |
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Principal Investigator
Maximilian Muenke, M.D.
National Human Genome Research Institute (NHGRI)
Maximilian Muenke, M.D.
Phone: (301) 402-8167
Email: mmuenke@nhgri.nih.gov
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| Backup Contact: |
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N/A |
| Location Contact: |
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Bethesda, Maryland 20892
United States
For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)
Phone: 800-411-1222
Email: prpl@mail.cc.nih.gov
Site Status: Recruiting |
| Data Source: |
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ClinicalTrials.gov |
| Date Processed: |
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May 19, 2013 |
| Modifications to this listing: |
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