The Clinical Study of Sex Chromosome Variants
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications, Women's Studies |
| Therapuetic Areas: | Other, Reproductive |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 3/24/2019 |
| Start Date: | July 30, 2012 |
| Contact: | Maximilian Muenke, M.D. |
| Email: | mamuenke@mail.nih.gov |
| Phone: | (301) 402-8167 |
The Clinical Study of Patients With Sex Chromosome Variants
Purpose/Lay Summary: Background:
- Chromosomes are the structures inside of each cell that carry our genetic material (genes).
Certain differences in the sex chromosomes are known to cause various diseases, such as
infertility, Turner syndrome, or Klinefelter syndrome. However, it is not fully understood
why these differences are seen and what clinical findings may be caused with different sex
chromosome variants. This study is seeking to learn more about the genetic and clinical
characteristics of disorders related to the X and Y chromosomes.
Objectives:
- To study related medical conditions in people with sex chromosome variants.
Eligibility:
- Patients with known sex chromosome differences may be eligible to participate.
- Healthy volunteers age 18 - 55
Design:
- Participants will be screened with a physical exam and medical history. Blood and urine
samples will be collected.
- This study will last about 5 days. Participants will have a variety of endocrine and
other tests. They will provide blood, urine, and semen samples for these tests.
- 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.
- Healthy volunteers with have a single day visit for a medical history, physical exam,
and blood and skin samples.
- Treatment will not be provided as part of this study.
- Compensation is offered.
- Chromosomes are the structures inside of each cell that carry our genetic material (genes).
Certain differences in the sex chromosomes are known to cause various diseases, such as
infertility, Turner syndrome, or Klinefelter syndrome. However, it is not fully understood
why these differences are seen and what clinical findings may be caused with different sex
chromosome variants. This study is seeking to learn more about the genetic and clinical
characteristics of disorders related to the X and Y chromosomes.
Objectives:
- To study related medical conditions in people with sex chromosome variants.
Eligibility:
- Patients with known sex chromosome differences may be eligible to participate.
- Healthy volunteers age 18 - 55
Design:
- Participants will be screened with a physical exam and medical history. Blood and urine
samples will be collected.
- This study will last about 5 days. Participants will have a variety of endocrine and
other tests. They will provide blood, urine, and semen samples for these tests.
- 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.
- Healthy volunteers with have a single day visit for a medical history, physical exam,
and blood and skin samples.
- Treatment will not be provided as part of this study.
- Compensation is offered.
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 sex-chromosome variants through detailed physical,
radiologic, and laboratory studies. We will concentrate on a group of patients (both male and
female) with known sex-chromosome variationsfully characterized through genetic sequencing
and karyotyping. Other patients with
sex chromosome variants will be invited depending on the variant described. Patients
recruited and consenting to this study will be evaluated at the NIH Clinical Center
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 sex-chromosome variants through detailed physical,
radiologic, and laboratory studies. We will concentrate on a group of patients (both male and
female) with known sex-chromosome variationsfully characterized through genetic sequencing
and karyotyping. Other patients with
sex chromosome variants will be invited depending on the variant described. Patients
recruited and consenting to this study will be evaluated at the NIH Clinical Center
- INCLUSION CRITERIA:
1. Patients previously identified through outside research or diagnostic labs as
having sex-chromosome variants causing deletion/duplication of sex-linked genes
or entire sex chromosomes, male and female.
2. In the event that a patient with a sex-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.
3. Willing family members of subjects enrolled may be enrolled as control subjects.
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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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