Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00494169|
Recruitment Status : Recruiting
First Posted : June 29, 2007
Last Update Posted : August 16, 2021
|Condition or disease|
|Hypogonadotropic Hypogonadism Kallmann Syndrome Puberty, Delayed Puberty, Precocious GnRH Deficiency|
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, and/or absence of pubertal development (i.e. Kallmann syndrome/hypogonadotropic hypogonadism). 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 12-24 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 participant 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. Research results will be relayed to the participant's healthcare provider and must be confirmed in a clinical laboratory before being relayed to the participant or used for medical care.
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, as explained above.
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.
|Study Type :||Observational|
|Estimated Enrollment :||5000 participants|
|Official Title:||Molecular Basis of Inherited Reproductive Disorders|
|Study Start Date :||January 1999|
|Estimated Primary Completion Date :||May 2023|
|Estimated Study Completion Date :||May 2024|
- Identification of DNA abnormalities [ Time Frame: 5/2015 ]
Biospecimen Retention: Samples With DNA
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): NCT00494169
|Contact: Study Coordinator||617-726-5384||ReproEndoGenetics@partners.org|
|Contact: Ravikumar Balasubramanian, MD, PhD||617-726-1309||ReproEndoGenetics@partners.org|
|United States, Massachusetts|
|Massachusetts General Hospital||Recruiting|
|Boston, Massachusetts, United States, 02114|
|Contact: Study Coordinator 617-726-5384 ReproEndoGenetics@partners.org|
|Contact: Ravi Balasubramanian, MD, PhD 617-726-1309 ReproEndoGenetics@partners.org|
|Principal Investigator:||Stephanie B Seminara, MD||Massachusetts General Hospital|