Hypogonadotropic HypogonadismNCT05971836
The Molecular Basis of Inherited Reproductive Disorders
An observational study of Hypogonadotropic Hypogonadism and Reproductive Disorder, run by Stephanie B. Seminara, MD at 1 site in United States.
Trial summary
The goal of this study is to learn more about the genes that control puberty and reproduction in humans. Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- Hypogonadotropic Hypogonadism, Reproductive Disorder, Kallmann Syndrome
- How many people
- 854 participants
- Where
- 1 siteUnited States
- Study dates
- 21 Jan 2021to 31 Mar 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Healthy controls and individuals with reproductive disorders and their affected and unaffected family members
Participants must be healthy controls or 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Massachusetts General Hospital
Boston, Massachusetts, 02114
About this study
The goal of this study is to learn more about the genes that control puberty and reproduction in humans.
Read the 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.
- Keywords
- Hypogonadotropic hypogonadism, Reproductive disorders, Kallmann syndrome, Kisspeptin, Delayed Puberty
- Medical subject headings
- Hypogonadism, Kallmann Syndrome, Puberty, Delayed
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Subjects with Reproductive Disorders or Healthy controls | Healthy controls or individuals with reproductive disorders and their affected and unaffected family members |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic variation
Identification of one or more genetic variations related to reproductive disorders
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Aug 2023
- Study start21 Jan 2021
- Primary completion31 Mar 2026
- Study completion31 Mar 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hypogonadotropic HypogonadismStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 854 participants (actual)
Sponsor and investigators
- Lead sponsor
- Stephanie B. Seminara, MD
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Stephanie B. Seminara, MD, Massachusetts General Hospital
- Investigators
- Stephanie Seminara, MD, Principal investigator, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05971836
- Sponsor's protocol ID
- 2020P000762
- Status last verified
- Jul 2026
- First submitted
- 17 Jul 2023
- Last updated
- 13 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Molecular Basis of Inherited Reproductive Disorders
- ClinicalTrials.gov ID
- NCT05971836
- Acronym / sponsor ID
- 2020P000762
- Keywords
- Hypogonadotropic hypogonadism, Reproductive disorders, Kallmann syndrome, Kisspeptin, Delayed Puberty
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 854 participants (actual)
- Lead sponsor
- Stephanie B. Seminara, MDUniversity, hospital or other
- Study start
- 21 Jan 2021 (actual)
- Primary completion
- 31 Mar 2026 (actual)
- Study completion
- 31 Mar 2026 (actual)
- First posted
- 2 Aug 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The goal of this study is to learn more about the genes that control puberty and reproduction in humans.
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
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Subjects with Reproductive Disorders or Healthy controls | – | –Healthy controls or individuals with reproductive disorders and their affected and unaffected family members |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Healthy controls and individuals with reproductive disorders and their affected and unaffected family members
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Genetic variation
Time frame: Day 1
Identification of one or more genetic variations related to reproductive disorders
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Jul 2026.
- Individual participant dataSharing planned: No
Related trials for Hypogonadotropic Hypogonadism
Recruiting
Feasibility of a Digital Self-help Program for Functional Hypothalamic Amenorrhea (HEAL-FHA Pilot)
Functional Hypothalamic Amenorrhea
RecruitingPhase 3
52 Week Study + 24-Month Long-Term Extension of Safety, PK, & Efficacy of XYOSTED® for Testosterone Replacement in Male Adolescents With Hypogonadism
Hypogonadism, Male
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingObservational study
Inherited Reproductive Disorders
Genetic Disorder, Infertility
Enrolling by invitation
AIM-TEST: Microbiome-Targeted Nutrition for Functional Secondary Hypogonadism
Hypogonadism, Male, Secondary Hypogonadism
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Stephanie Seminara, MD principal investigator
Massachusetts General Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hypogonadotropic Hypogonadism and Reproductive Disorder, run by Stephanie B. Seminara, MD at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genetic variation (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Jul 2026.