The Molecular Basis of Inherited Reproductive Disorders

NCT ID: NCT05971836

Last Updated: 2025-07-25

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-01-21

Study Completion Date

2026-03-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

The goal of this study is to learn more about the genes that control puberty and reproduction in humans.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Hypogonadotropic Hypogonadism Reproductive Disorder Kallmann Syndrome Delayed Puberty

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Subjects with Reproductive Disorders

Individuals with reproductive disorders and their affected and unaffected family members

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

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
Minimum Eligible Age

1 Year

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Stephanie B. Seminara, MD

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Stephanie B. Seminara, MD

Chief, Reproductive Endocrine Unit; Professor of Medicine, Harvard Medical School; Director, MGH Harvard Center for Reproductive Medicine

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Stephanie Seminara, MD

Role: PRINCIPAL_INVESTIGATOR

Massachusetts General Hospital

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Massachusetts General Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

United States

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Study Coordinator

Role: CONTACT

617-643-2308

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Study Coordinator

Role: primary

617-643-2308

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

2020P000762

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

Study of Gene Associations and Infertility
NCT01223092 ENROLLING_BY_INVITATION
Genetics of Middle Ear Disease
NCT00422136 COMPLETED