The Clinical Study of Sex Chromosome Variants
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|ClinicalTrials.gov Identifier: NCT01661010|
Recruitment Status : Completed
First Posted : August 9, 2012
Last Update Posted : February 8, 2023
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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.
- To study related medical conditions in people with sex chromosome variants.
- Patients with known sex chromosome differences may be eligible to participate.
- Healthy volunteers age 18 - 55
- 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.
|Condition or disease|
|Male Factor Infertility Female Factor Infertility|
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
|Study Type :||Observational|
|Actual Enrollment :||112 participants|
|Official Title:||The Clinical Study of Patients With Sex Chromosome Variants|
|Actual Study Start Date :||July 30, 2012|
Family members can serve as control group
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.
- Phenotype [ Time Frame: Ongoing ]To characterize the physical, reproductive, endocrinologic and radiologic phenotype of a group of patients who have known sex-chromosome structural and copy-number variants.
- Spectrum [ Time Frame: Ongoing ]To examine the spectrum of clinical characteristics of infertility and other conditions related to sex-chromosome variants and facilitate early clinical recognition, diagnostic confirmation, anticipatory management, prognostication, and proper genetic counseling.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||18 Years and older (Adult, Older Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- 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.
- 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.
- Willing family members of subjects enrolled may be enrolled as control subjects.
- Anyone unwilling to provide informed consent or assent.
- 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).
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01661010
|United States, Maryland|
|National Institutes of Health Clinical Center|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Ashley J Buscetta, C.R.N.P.||National Human Genome Research Institute (NHGRI)|
|Responsible Party:||National Human Genome Research Institute (NHGRI)|
|Other Study ID Numbers:||
|First Posted:||August 9, 2012 Key Record Dates|
|Last Update Posted:||February 8, 2023|
|Last Verified:||November 15, 2022|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Undecided|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|