The Molecular Basis of Inherited Reproductive Disorders

July 31, 2023 updated by: Stephanie B. Seminara, MD
The goal of this study is to learn more about the genes that control puberty and reproduction in humans.

Study Overview

Status

Recruiting

Conditions

Detailed Description

All study subjects will undergo the same activities. Subjects will provide up to five tubes of blood for genetic analysis, complete a smell test, and answer questions about their health and family history.

Study Type

Observational

Enrollment (Estimated)

600

Contacts and Locations

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

Study Contact

Study Locations

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

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals with reproductive disorders and their affected and unaffected family members

Description

Participants must belong to one of the following categories:

  • Failure to go through a normal, age-appropriate, spontaneous puberty and low sex steroid levels in the setting of low/normal gonadotropins or,
  • Abnormally early development of puberty or,
  • Normal puberty with subsequent development of low gonadotropin levels or,
  • Evidence of a reproductive disorder with high gonadotropin levels or,
  • Pre-pubertal individuals with features suggestive of hypogonadotropic hypogonadism or,
  • Affected and unaffected family members of individuals that fit criteria above

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

Cohorts and Interventions

Group / Cohort
Subjects with Reproductive Disorders
Individuals with reproductive disorders and their affected and unaffected family members

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Genetic variation
Time Frame: Day 1
Identification of one or more genetic variations related to reproductive disorders
Day 1

Collaborators and Investigators

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

Sponsor

Stephanie B. Seminara, MD

Investigators

  • Principal Investigator: Stephanie Seminara, MD, Massachusetts General Hospital

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 (Actual)

January 21, 2021

Primary Completion (Estimated)

March 1, 2026

Study Completion (Estimated)

March 1, 2026

Study Registration Dates

First Submitted

July 17, 2023

First Submitted That Met QC Criteria

July 31, 2023

First Posted (Actual)

August 2, 2023

Study Record Updates

Last Update Posted (Actual)

August 2, 2023

Last Update Submitted That Met QC Criteria

July 31, 2023

Last Verified

July 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2020P000762

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

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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