Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders

  • STATUS
    Recruiting
  • End date
    May 26, 2024
  • participants needed
    5000
  • sponsor
    Massachusetts General Hospital
Updated on 26 January 2021
hypogonadism
hormone levels
precocious puberty
klinefelter syndrome
secondary hypogonadism
idiopathic hypogonadotropic hypogonadism
kallmann syndrome

Summary

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.

Description

Overview

Our work is divided into two main areas of investigation:

  1. 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.
  2. 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.
    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, 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.

Details
Condition Kallmann's Syndrome, Hypogonadism, Klinefelter's Syndrome, Anosmia, Precocious Puberty, Delayed Puberty, Hypothalamic Amenorrhea, GnRH Deficiency, Testotoxicosis, early puberty, hypogonadotropic hypogonadism, klinefelter syndrome, delay puberty, secondary hypogonadism, kallmann syndrome
Clinical Study IdentifierNCT00494169
SponsorMassachusetts General Hospital
Last Modified on26 January 2021

Eligibility

Yes No Not Sure

Inclusion Criteria

Gender: Male or Female
Do you have any of these conditions: Anosmia or Hypogonadism or Klinefelter's Syndrome or Kallmann's Syndrome or GnRH Deficiency or Precocious Puberty or Hypothalamic Amenorrhea or Testot...?
Do you have any of these conditions: early puberty or GnRH Deficiency or Precocious Puberty or Delayed Puberty or Hypothalamic Amenorrhea or Testotoxicosis or delay puberty or Klinefelter...?
Do you have any of these conditions: kallmann syndrome or klinefelter syndrome or Kallmann's Syndrome or Hypothalamic Amenorrhea or Klinefelter's Syndrome or delay puberty or secondary hy...?
Do you have any of these conditions: hypogonadotropic hypogonadism or Hypogonadism or Kallmann's Syndrome or GnRH Deficiency or Hypothalamic Amenorrhea or kallmann syndrome or klinefelter...?
Failure to go through a normal, age-appropriate, spontaneous puberty, and abnormal hormone levels OR
Children with abnormally early development of puberty (Precocious Puberty) OR
Family members of these patients

Exclusion Criteria

pituitary tumor
high prolactin levels
Clear my responses

How to participate?

Step 1 Connect with a site
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.

You are contacting

Investigator Avatar
Name

Primary Contact

site
Name

Phone Email

0/250
Please verify that you are not a bot.

Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

Learn more

Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

Learn more

Similar trials to consider

Loading...

Browse trials for

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Sign up as volunteer

user name

Added by • 

 • 

Private

Reply by • Private
Loading...

Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!

  The passcode will expire in None.
Loading...

No annotations made yet

Add a private note
  • abc Select a piece of text from the left.
  • Add notes visible only to you.
  • Send it to people through a passcode protected link.
Add a private note