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Sponsored by: |
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
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Information provided by: | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
ClinicalTrials.gov Identifier: | NCT00494169 |
The aims of this study are: 1) to identify genes that play a role in human pubertal development and reproduction, 2) to characterize the phenotypic spectrum of patients with these gene defects, and 3) to discern the mode of inheritance for disorders caused by these gene defects. We are specifically interested in genes that cause Kallmann syndrome, idiopathic hypogonadotropic hypogonadism (IHH), precocious (early) puberty, and delayed puberty. Individuals do not have to travel to Boston to participate in this study.
Condition |
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Hypogonadism Kallmann Syndrome Puberty, Delayed Puberty, Precocious Hypothalamic Amenorrhea Anosmia |
Study Type: | Observational |
Study Design: | Case Control, Cross-Sectional |
Official Title: | Molecular Basis of Inherited Reproductive Disorders |
WBC are transformed into immortalized cell lines.
Estimated Enrollment: | 5000 |
Study Start Date: | January 1999 |
Estimated Study Completion Date: | December 2010 |
Overview:
Our work is divided into two main areas of investigation:
There are several other important aspects about our program:
Study Procedures and Risks
Benefits:
There are no direct benefits to you from participation in this study. Some genes for this condition are known, other genes have yet to be discovered. If this study discovers what genes are responsible, it will help to further the understanding of this disorder. It is possible that the genetic cause of your reproductive disorder may be learned. This information can be shared with you at your request.
When contacting us, please include in your message a description of your diagnosis, your pubertal history (age when you hit pubertal hallmarks, e.g., growth spurt; body hair; voice deepening and genital growth for men; menstruation and breast development for women) and your reproductive history.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Subjects who
Family members of these patients.
Inclusion Criteria:
Exclusion Criteria:
Contact: Margaret Au, MBE, MS | 617-726-5526 | ReproEndoGenetics@partners.org |
Contact: Andrew Dwyer, RN, MSN | 617-726-8622 | Adwyer@partner.org |
United States, Massachusetts | |
Massachusetts General Hospital | Recruiting |
Boston, Massachusetts, United States, 02114 | |
Contact: Margaret Au, MBE, MS 617-726-5526 ReproEndoGenetics@partners.org | |
Contact: Andrew Dwyer, RN, MSN 617-726-8622 Adwyer@partners.org |
Principal Investigator: | William F Crowley, Jr., MD | Massachusetts General Hospital / Harvard Medical School |
Responsible Party: | Massachusetts General Hospital ( William F. Crowley, Jr. ) |
Study ID Numbers: | U54HD028138-611 |
Study First Received: | June 28, 2007 |
Last Updated: | December 4, 2008 |
ClinicalTrials.gov Identifier: | NCT00494169 |
Health Authority: | United States: Federal Government |
Idiopathic Hypogonadotropic Hypogonadism Kallmann Syndrome Puberty |
Pituitary Abnormalities Hypothalamus anosmia |
Nervous System Malformations Puberty, Precocious Gonadal Disorders Amenorrhea Puberty, Delayed Endocrine System Diseases Septo-optic dysplasia Kallmann Syndrome |
Sex Differentiation Disorders Hypogonadism Urogenital Abnormalities Menstruation Disturbances Genetic Diseases, Inborn Endocrinopathy Congenital Abnormalities Septo-Optic Dysplasia |
Disease Pathologic Processes Syndrome Nervous System Diseases |