Hypogonadism, HypogonadotropicNCT04733274
Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing
An observational study of Hypogonadism, Hypogonadotropic and Kallmann Syndrome, run by Boston College at 2 sites in United States.
Trial summary
Technologic advances (i.e. next generation sequencing technologies and novel bioinformatics approaches) have been drivers of scientific discovery and have deepened our understanding of the genetics and genomics of health and disease. Read more about this study
- Who is it for?
- Ages 18 to 70 years
- Conditions the study is for
- Hypogonadism, Hypogonadotropic, Kallmann Syndrome
- How many people
- 227 participants
- Where
- 2 sitesUnited States
- Study dates
- 22 Mar 2018to 31 Dec 2025
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 18 to 70 years
- All sexes
- Adult, Older adult
Study population: Patients diagnosed with either normosmic hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS)
Who may be able to join
- self-identified as having been diagnosed with either normosmic hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS)
- between the ages of 18-70 years
- primary language is English/capable of responding to a written questionnaire in English
- has lived in the United states for 5 years or longer
- checking the opt-in electronic consent
Who cannot join
- other diagnosis of hypogonadism i.e. Klinefelter syndrome, or adult-onset hypogonadotropic hypogonadism
- outside the stated age range
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Massachusetts General Hospital
Boston, Massachusetts, 02114
Boston College
Chestnut Hill, Massachusetts, 02467
About this study
Technologic advances (i.e. next generation sequencing technologies and novel bioinformatics approaches) have been drivers of scientific discovery and have deepened our understanding of the genetics and genomics of health and disease. In parallel, the falling cost of sequencing has led to screening moving from specialty clinics into the primary care setting. However, our ability to help patients and families understand these technologies and related genetic health literacy issues lag behind. These factors pose a number of questions and challenges for clinicians including: how can we best present complex genetic/genomic information to patients to ensure that patients understand the information and can make informed decisions? What are the specific information and support needs of patients and families to be able to make decisions that are in line with their values? In collaboration with investigators from the Harvard Reproductive Endocrine Sciences Center at the Massachusetts General Hospital, this project broadly aims to examine patient understanding and factors affecting decisions surrounding genetic testing. Using the paradigm of a rare genetic disorder (isolated gonadotropin releasing hormone [GnRH] deficiency - hypogonadotropic hypogonadism/Kallmann syndrome [HH/KS]) we will examine the views and perspectives of patients and healthcare professionals alike regarding genetic/genomic information and testing with the intention of identifying patient-centered responses to these unmet needs and challenges.
Read the detailed description
The focus of this study is to better understand perspectives on genetic testing. The study will collect and analyze both quantitative and qualitative data form healthcare professionals as well as patients. Findings will be used to inform more person-centered approaches to genetic testing that will support high-quality decisions that are informed and aligned with patient values and preferences. To achieve this, the study has three specific aims.
Aim 1. Evaluate the understandability and acceptability of education materials (including information on genetic testing) co-created with patients.
Patient education materials will be created drawing on healthcare professionals expertise (i.e. content experts) and patients (i.e. lived experience). Quality of materials will be quantitatively measured using the gold standard Patient Education Materials Assessment Tool (PEMAT).
Aim 2. Identify the central elements for a patient decision aid using expert clinician opinion.
Healthcare professionals who are content experts in the field will be surveyed to determine key information for a proposed genetic testing decision aid. Quantitative findings will guide the content of a patient decision aid for genetic testing.
Aim 3. Explore patient needs for information and support related to genetic testing.
Qualitative focus groups with patients will be conducted and analyzed using thematic analysis. Findings will inform the development of a patient decision aid for genetic testing that is responsive to the aspects which matter most to patients.
- Conditions
- Hypogonadism, Hypogonadotropic, Kallmann Syndrome
- Medical subject headings
- Hypogonadism, Kallmann Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate the understandability and acceptability of education materials (including information on genetic testing) cocreated with patients
Patient Education Materials Assessment Tool (PEMAT): higher scores indicate materials that are more readily understood and actionable by patients
Measured: 1-hour post-test
Identify the central elements for a patient decision aid using expert clinician opinion
survey with Likert-type scale questions: higher scores indicate a perceived higher priority for respective items/topic matter
Measured: baseline
Explore patient needs for information and support related to genetic testing
Qualitative focus group findings (thematic analysis) - open ended questions will probe the nature of experiences with genetic testing as well as perceived promoters and barriers to testing and sharing results with potentially at-risk blood relatives
Measured: baseline
Secondary outcomes (1)
Compare face-to-face and virtual focus group formats
similarities/differences in face-to-face vs. virtual focus groups - emergent themes form face-to-face and virtual focus groups will be compared to identify similarities/differences in the type and quantity of elicited codes
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Feb 2021
- Study start22 Mar 2018
- Primary completion21 Jun 2021
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Hypogonadism, HypogonadotropicStudies 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
- Ecologic or community
- Time perspective
- Cross-sectional
- Enrolment
- 227 participants (actual)
Sponsor and investigators
- Lead sponsor
- Boston College
- Sponsor type
- University, hospital or other
- Collaborators
- Massachusetts General Hospital
- Responsible party
- Principal investigator, Andrew Dwyer, Boston College
- Investigators
- Andrew A Dwyer, PhD, Principal investigator, Boston College
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04733274
- Sponsor's protocol ID
- 18.081.01
- Status last verified
- Feb 2025
- First submitted
- 25 Jan 2021
- Last updated
- 4 Feb 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Dwyer AA, Uveges M, Dockray S, Smith N. Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formats. Orphanet J Rare Dis. 2022 Sep 11;17(1):354. doi: 10.1186/s13023-022-02522-3.
PubMed 36089593Dwyer AA, Zeng Z, Lee CS. Validating online approaches for rare disease research using latent class mixture modeling. Orphanet J Rare Dis. 2021 May 10;16(1):209. doi: 10.1186/s13023-021-01827-z.
PubMed 33971926Dwyer AA, Uveges MK, Dockray S, Smith N. Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care. J Pers Med. 2022 Mar 16;12(3):477. doi: 10.3390/jpm12030477.
PubMed 35330476
Study at a glance
From the registry record, last updated by the sponsor on 4 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing
- ClinicalTrials.gov ID
- NCT04733274
- Acronym / sponsor ID
- 18.081.01
- Conditions
- Hypogonadism, Hypogonadotropic, Kallmann Syndrome
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 227 participants (actual)
- Lead sponsor
- Boston CollegeUniversity, hospital or other
- Collaborators
- Massachusetts General Hospital
- Study start
- 22 Mar 2018 (actual)
- Primary completion
- 21 Jun 2021 (actual)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 2 Feb 2021 (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.
Technologic advances (i.e. next generation sequencing technologies and novel bioinformatics approaches) have been drivers of scientific discovery and have deepened our understanding of the genetics and genomics of health and disease. In parallel, the falling cost of sequencing has led to screening moving from specialty clinics into the primary care setting. However, our ability to help patients and families understand these technologies and related genetic health literacy issues lag behind. These factors pose a number of questions and challenges for clinicians including: how can we best present complex genetic/genomic information to patients to ensure that patients understand the information and can make informed decisions? What are the specific information and support needs of patients and families to be able to make decisions that are in line with their values? In collaboration with investigators from the Harvard Reproductive Endocrine Sciences Center at the Massachusetts General Hospital, this project broadly aims to examine patient understanding and factors affecting decisions surrounding genetic testing. Using the paradigm of a rare genetic disorder (isolated gonadotropin releasing hormone [GnRH] deficiency - hypogonadotropic hypogonadism/Kallmann syndrome [HH/KS]) we will examine the views and perspectives of patients and healthcare professionals alike regarding genetic/genomic information and testing with the intention of identifying patient-centered responses to these unmet needs and challenges.
Detailed description
The focus of this study is to better understand perspectives on genetic testing. The study will collect and analyze both quantitative and qualitative data form healthcare professionals as well as patients. Findings will be used to inform more person-centered approaches to genetic testing that will support high-quality decisions that are informed and aligned with patient values and preferences. To achieve this, the study has three specific aims.
Aim 1. Evaluate the understandability and acceptability of education materials (including information on genetic testing) co-created with patients.
Patient education materials will be created drawing on healthcare professionals expertise (i.e. content experts) and patients (i.e. lived experience). Quality of materials will be quantitatively measured using the gold standard Patient Education Materials Assessment Tool (PEMAT).
Aim 2. Identify the central elements for a patient decision aid using expert clinician opinion.
Healthcare professionals who are content experts in the field will be surveyed to determine key information for a proposed genetic testing decision aid. Quantitative findings will guide the content of a patient decision aid for genetic testing.
Aim 3. Explore patient needs for information and support related to genetic testing.
Qualitative focus groups with patients will be conducted and analyzed using thematic analysis. Findings will inform the development of a patient decision aid for genetic testing that is responsive to the aspects which matter most to patients.
Study design
- Observational model
- Ecologic or community
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- Patients diagnosed with either normosmic hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS)
Key inclusion criteria (5 listed)
- self-identified as having been diagnosed with either normosmic hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS)
- between the ages of 18-70 years
- primary language is English/capable of responding to a written questionnaire in English
- has lived in the United states for 5 years or longer
- checking the opt-in electronic consent
Key exclusion criteria (2 listed)
- other diagnosis of hypogonadism i.e. Klinefelter syndrome, or adult-onset hypogonadotropic hypogonadism
- outside the stated age range
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
Evaluate the understandability and acceptability of education materials (including information on genetic testing) cocreated with patients
Time frame: 1-hour post-test
Patient Education Materials Assessment Tool (PEMAT): higher scores indicate materials that are more readily understood and actionable by patients
Identify the central elements for a patient decision aid using expert clinician opinion
Time frame: baseline
survey with Likert-type scale questions: higher scores indicate a perceived higher priority for respective items/topic matter
Explore patient needs for information and support related to genetic testing
Time frame: baseline
Qualitative focus group findings (thematic analysis) - open ended questions will probe the nature of experiences with genetic testing as well as perceived promoters and barriers to testing and sharing results with potentially at-risk blood relatives
1 secondary outcome
Compare face-to-face and virtual focus group formats
Time frame: baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Feb 2025.
- Background: PubMed 36089593Dwyer AA, Uveges M, Dockray S, Smith N. Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formats. Orphanet J Rare Dis. 2022 Sep 11;17(1):354. doi: 10.1186/s13023-022-02522-3.
- Results publication: PubMed 33971926Dwyer AA, Zeng Z, Lee CS. Validating online approaches for rare disease research using latent class mixture modeling. Orphanet J Rare Dis. 2021 May 10;16(1):209. doi: 10.1186/s13023-021-01827-z.
- Results publication: PubMed 35330476Dwyer AA, Uveges MK, Dockray S, Smith N. Exploring Rare Disease Patient Attitudes and Beliefs regarding Genetic Testing: Implications for Person-Centered Care. J Pers Med. 2022 Mar 16;12(3):477. doi: 10.3390/jpm12030477.
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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.
Andrew A Dwyer, PhD principal investigator
Boston College
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hypogonadism, Hypogonadotropic and Kallmann Syndrome, run by Boston College at 2 sites 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?
The sponsor lists 5 inclusion and 2 exclusion criteria. 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: under way, not looking for participants, as of the sponsor's last update on 4 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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?
This study is still under way. Results are not available in the source record yet.
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?
Evaluate the understandability and acceptability of education materials (including information on genetic testing) cocreated with patients (time frame: 1-hour post-test). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04733274, which also lists 3 linked publications.
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 4 Feb 2025.