Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders
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.
|Study Design:||Observational Model: Case Control
Time Perspective: Cross-Sectional
|Official Title:||Molecular Basis of Inherited Reproductive Disorders|
- Identification of DNA abnormalities [ Time Frame: 5/2015 ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
WBC are transformed into immortalized cell lines.
|Study Start Date:||January 1999|
|Estimated Study Completion Date:||May 2015|
|Estimated Primary Completion Date:||May 2015 (Final data collection date for primary outcome measure)|
Our work is divided into two main areas of investigation:
- the discovery of new, yet-undiscovered genes for conditions of early (i.e. precocious) puberty, delayed puberty, absence of pubertal development (i.e. Kallmann syndrome) as well as normal puberty that is accompanied by an altered reproductive system later in life (i.e. hypothalamic amenorrhea in women or very low testosterone levels in men). Identification of new genes requires either a single large family or a collection of smaller families.
- a detailed examination of the genes already implicated in causing these conditions.
There are several other important aspects about our program:
- This analysis will detect DNA abnormalities only in those DNA segments being screened. The turnaround time to process a sample is approximately 6-9 months. We must receive a signed consent form in order to begin analysis on a blood sample.
- Our laboratory is located in Massachusetts General Hospital, Boston MA and is largely funded by the National Institutes of Health. We are a research laboratory and not a CLIA certified clinical laboratory.
- Even if a patient is the only member of his/her family affected by one of the conditions mentioned above, obtaining blood samples on other family members, including parents and siblings is often important to our work.
- It is every individual's responsibility to notify the research team he/she would like to obtain research results. The patient must sign a second consent form before receiving such information.
Study Procedures and Risks
- You will be asked to give approximately 3-5 tablespoons of blood for this research project. There is a risk of bruising and a very small amount of bleeding associated with blood drawing.
- You will be asked to fill out a medical history checklist, indicating the presence or absence of clinical features that may be associated with abnormalities in pubertal development.
- Since absence of puberty is sometimes associated with limited or no smell ability, you may be asked to try to identify the odors in a scratch and sniff test. This will take about 15 minutes.
- Your family history can give us clues to determine how your condition was inherited. Therefore, a detailed family history, at least back to your grandparents will be obtained by a researcher.
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.
|Contact: Cassandra Buck, CGC, MS||617-726-5526||ReproEndoGenetics@partners.org|
|Contact: Kayla Sheets, CGC, MSemail@example.com|
|United States, Massachusetts|
|Massachusetts General Hospital||Recruiting|
|Boston, Massachusetts, United States, 02114|
|Contact: Cassandra Buck, CGC, MS 617-726-5526 ReproEndoGenetics@partners.org|
|Contact: Kayla Sheets, CGC, MS 617-724-2704 firstname.lastname@example.org|
|Principal Investigator:||William F Crowley, Jr., MD||Massachusetts General Hospital|