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The Molecular Basis of Inherited Reproductive Disorders

Sponsor
Stephanie B. Seminara, MD (Other)
Overall Status
Recruiting
CT.gov ID
NCT05971836
Collaborator
(none)
600
Enrollment
1
Location
61.3
Anticipated Duration (Months)
9.8
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational
    Anticipated Enrollment :
    600 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Official Title:
    The Molecular Basis of Inherited Reproductive Disorders
    Actual Study Start Date :
    Jan 21, 2021
    Anticipated Primary Completion Date :
    Mar 1, 2026
    Anticipated Study Completion Date :
    Mar 1, 2026

    Arms and Interventions

    Arm Intervention/Treatment
    Subjects with Reproductive Disorders

    Individuals with reproductive disorders and their affected and unaffected family members

    Outcome Measures

    Primary Outcome Measures

    1. Genetic variation [Day 1]

      Identification of one or more genetic variations related to reproductive disorders

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    1 Year and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Massachusetts General Hospital Boston Massachusetts United States 02114

    Sponsors and Collaborators

    • Stephanie B. Seminara, MD

    Investigators

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

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Stephanie B. Seminara, MD, Chief, Reproductive Endocrine Unit; Professor of Medicine, Harvard Medical School; Director, MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital
    ClinicalTrials.gov Identifier:
    NCT05971836
    Other Study ID Numbers:
    • 2020P000762
    First Posted:
    Aug 2, 2023
    Last Update Posted:
    Aug 2, 2023
    Last Verified:
    Jul 1, 2023
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by Stephanie B. Seminara, MD, Chief, Reproductive Endocrine Unit; Professor of Medicine, Harvard Medical School; Director, MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital
    Hypogonadotropic hypogonadism
    Reproductive disorders
    Kallmann syndrome
    Kisspeptin
    Delayed Puberty
    Additional relevant MeSH terms:
    Kallmann Syndrome
    Hypogonadism
    Puberty, Delayed

    Study Results

    No Results Posted as of Aug 2, 2023