Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders

June 29, 2022 updated by: Stephanie B. Seminara, MD, Massachusetts General Hospital

Molecular Basis of Inherited 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 Overview

Detailed 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.

Study Type

Observational

Enrollment (Actual)

4042

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • Massachusetts
      • Boston, Massachusetts, United States, 02114
        • Massachusetts General Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Subjects who

  1. fail to go through a normal, age-appropriate, spontaneous puberty, and abnormal hormone levels.
  2. have abnormally early development of puberty (Precocious Puberty)
  3. Family members of these patients.

Description

Inclusion Criteria:

  • 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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Identification of DNA abnormalities
Time Frame: 5/2015
5/2015

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 1999

Primary Completion (ACTUAL)

February 1, 2022

Study Completion (ACTUAL)

February 1, 2022

Study Registration Dates

First Submitted

June 28, 2007

First Submitted That Met QC Criteria

June 28, 2007

First Posted (ESTIMATE)

June 29, 2007

Study Record Updates

Last Update Posted (ACTUAL)

June 30, 2022

Last Update Submitted That Met QC Criteria

June 29, 2022

Last Verified

June 1, 2022

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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