Health Needs of Patients With Kallmann Syndrome

Study Overview
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Brief Summary
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Kallmann syndrome (KS), also known as congenital hypogonadotropic hypogonadism (CHH), is a rare endocrine disorder that is characterized by failure to undergo puberty combined with infertility. KS/CHH patients face a number of psychosocial burdens related to delays in diagnosis, inadequate access to expert care, and lack of information about the condition. As such, there is some evidence to suggest that KS/CHH patients have unmet health needs. This study aims to identify the needs of patients and understand the issues that must be overcome to achieve improved health and quality of life.

Detailed Description
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This study aims to examine the experiences of patients diagnosed with Kallmann syndrome (KS)/congenital hypogonadotropic hypogonadism (CHH). The study includes two parts: online survey (less than 30 minutes to complete) focus groups with KS/CHH patients The aim of this project is to better understand what health needs are not presently being met for these patients and to identify targets for improving the care of patients diagnosed with KS/CHH

Official Title
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Factors Affecting Health Promoting Behavior in Rare Disease Patients: A Mixed Methods Study of Men With Congenital Hypogonadotropic Hypogonadism (CHH)

Conditions
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Kallmann Syndrome, Congenital Hypogonadotropic Hypogonadism, Idiopathic Hypogonadotropic Hypogonadism

Intervention / Treatment
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* Other: online questionairres


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosed with congenital hypogonadotropic hypogonadism: i.e. Kallmann syndrome or idiopathic hypogonadotropic hypogonadism Primary language is English/capable of responding to a written questionnaire in English Consenting to participate in the study Exclusion Criteria: other diagnosis of hypogonadism: i.e. hypergonadotropic hypogonadism (Klinefelter syndrome), adult onset hypogonadism, etc.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 75 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Online web-based questionnaire<br>Up to 200 patients with KS/CHH will be recruited to complete an online web-based questionnaire (less than 30 minutes to complete) | Other: online questionairres<br>* see group descriptions<br>* Other names: patient focus groups;|
| Patient focus group<br>Focus groups (90-120 minutes in duration) with 6-12 patients. Up to 36 patients total | |
| Online web-based evaluation of patient education materials<br>Up to 100 patients with KS/CHH will be recruited to complete an online web-based questionnaire to evaluate patient education materials (less than 15 minutes to complete) | Other: online questionairres<br>* see group descriptions<br>* Other names: patient focus groups;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| illness perception | subjective self-assessment questionnaire of how KS/CHH impacts a patient's life | baseline | 
| depression symptoms | self-rated questionnaire of depression symptoms | baseline | 
| adherence to treatment | self-report of adherence to medication treatment and periods without treatment or healthcare | baseline | 
| understandability and actionability of patient education materials | completion of Patient Education Materials Assessment Tool (PEMAT) | baeline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| coping | Focus groups will be conducted to evaluate how KS/CHH impacts patients quality of life, the barriers to better health/quality of life, and how patients cope with living with KS/CHH | baseline | 
| Interactions wth healthcare | A questionnaire reporting the quality and type of interactions with healthcare providers and the healthcare system | baseline | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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rare disease, community-based participatory research, health promotion, quantitative research, qualitative research, focus group