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Protocol Details

The Clinical Study of Patients with Sex Chromosome Variants

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

12-HG-0181

Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 18
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

Children

Keywords

Infertility;
Turner Syndrome;
X-Chromosome;
Y-Chromosome;
Aneuploidy;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Male Factor Infertility;
Female Factor Infertility

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Human Genome Research Institute

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.

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Eligibility

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) 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).

(2) We reserve the right to exclude cases that are clearly not related to sex-chromosome 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 sex-chromosome variant cases for research purposes.


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Citations:

1: Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD, Schlegel PN. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Reprod. 1998 Oct;13(1O):2812-5.

1: Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007 Jan;92(1):10-25. Epub 2006 Oct 17.

1: Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. Genetic evidence equating SRY and the testis-determining factor. Nature. 1990 Nov 29;348(6300):448-50.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Ashley J. Buscetta, C.R.N.P.
National Human Genome Research Institute (NHGRI)
NIHBC 31 BG RM B1B54
31 CENTER DR
BETHESDA MD 20892
(301) 496-3033
ashley.buscetta@nih.gov

Ashley J. Buscetta, C.R.N.P.
National Human Genome Research Institute (NHGRI)
NIHBC 31 BG RM B1B54
31 CENTER DR
BETHESDA MD 20892
(301) 496-3033
ashley.buscetta@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT01661010

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