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| ID | Type | Description | Link |
|---|---|---|---|
| 233/13 | Other Identifier | Commission Cantonale (Vaud) |
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| Name | Class |
|---|---|
| University of Lausanne | OTHER |
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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.
This study aims to examine the experiences of patients diagnosed with Kallmann syndrome (KS)/congenital hypogonadotropic hypogonadism (CHH).
The study includes two parts:
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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Online web-based questionnaire | Up to 200 patients with KS/CHH will be recruited to complete an online web-based questionnaire (less than 30 minutes to complete) |
| |
| Patient focus group | Focus groups (90-120 minutes in duration) with 6-12 patients. Up to 36 patients total | ||
| Online web-based evaluation of patient education materials | 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) |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| online questionairres | Other | see group descriptions |
|
| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Adults diagnosed with congenital hypogonadotropic hypogonadism/Kallmann syndrome will be recuited internationally.
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| Name | Affiliation | Role |
|---|---|---|
| Andrew Dwyer, PhD, FNP-BC | Centre Hositalier Universitaire Vaudois (CHUV) | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre Hospitalier Universitaire Vaudois (CHUV) | Lausanne | Canton of Vaud | 1011 | Switzerland |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 24915927 | Result | Dwyer AA, Quinton R, Morin D, Pitteloud N. Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support. Orphanet J Rare Dis. 2014 Jun 11;9:83. doi: 10.1186/1750-1172-9-83. | |
| 25844173 | Result |
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Patient characteristics will be reported in aggregate (no identifiers)
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| ID | Term |
|---|---|
| D017436 | Kallmann Syndrome |
| C562785 | Idiopathic Hypogonadotropic Hypogonadism |
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D058490 | Disorder of Sex Development, 46,XY |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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A questionnaire reporting the quality and type of interactions with healthcare providers and the healthcare system
| baseline |
| Dwyer AA, Quinton R, Pitteloud N, Morin D. Psychosexual development in men with congenital hypogonadotropic hypogonadism on long-term treatment: a mixed methods study. Sex Med. 2015 Mar;3(1):32-41. doi: 10.1002/sm2.50. |
| 27647266 | Result | Dwyer AA, Tiemensma J, Quinton R, Pitteloud N, Morin D. Adherence to treatment in men with hypogonadotrophic hypogonadism. Clin Endocrinol (Oxf). 2017 Mar;86(3):377-383. doi: 10.1111/cen.13236. Epub 2017 Jan 11. |
| 28698240 | Result | Dzemaili S, Tiemensma J, Quinton R, Pitteloud N, Morin D, Dwyer AA. Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism. Endocr Connect. 2017 Aug;6(6):404-412. doi: 10.1530/EC-17-0095. Epub 2017 Jul 11. |
| 28320476 | Result | COST Action BM1105; Badiu C, Bonomi M, Borshchevsky I, Cools M, Craen M, Ghervan C, Hauschild M, Hershkovitz E, Hrabovszky E, Juul A, Kim SH, Kumanov P, Lecumberri B, Lemos MC, Neocleous V, Niedziela M, Djurdjevic SP, Persani L, Phan-Hug F, Pignatelli D, Pitteloud N, Popovic V, Quinton R, Skordis N, Smith N, Stefanija MA, Xu C, Young J, Dwyer AA. Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism. Orphanet J Rare Dis. 2017 Mar 20;12(1):57. doi: 10.1186/s13023-017-0608-2. |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D007006 | Hypogonadism |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |