Clinical trial NCT01914172: Health Needs of Patients With Kallmann Syndrome
Official title: Factors Affecting Health Promoting Behavior in Rare Disease Patients: A Mixed Methods Study of Men With Congenital Hypogonadotropic Hypogonadism (CHH)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Kallmann Syndrome
Congenital Hypogonadotropic Hypogonadism
Idiopathic Hypogonadotropic Hypogonadism
Keywords: rare disease
community-based participatory research
health promotion
quantitative research
qualitative research
focus group
Lead sponsor: Centre Hospitalier Universitaire Vaudois
Sponsor class: OTHER
Collaborators: name: University of Lausanne
First posted: 2013-08-02
Enrollment: 249
Sex: ALL
Minimum age (years): 18
Maximum age (years): 75
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Adults diagnosed with congenital hypogonadotropic hypogonadism/Kallmann syndrome will be recuited internationally.

Brief summary: 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: 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

Eligibility criteria: 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.

Primary outcomes:
measure: illness perception
timeFrame: baseline
measure: depression symptoms
timeFrame: baseline
measure: adherence to treatment
timeFrame: baseline
measure: understandability and actionability of patient education materials
timeFrame: baeline
Secondary outcomes:
measure: coping
timeFrame: baseline
measure: Interactions wth healthcare
timeFrame: baseline
Other outcomes:
Locations:
city: Lausanne
country: Switzerland
facility: Centre Hospitalier Universitaire Vaudois (CHUV)
state: Vaud
Study officials:
affiliation: Centre Hositalier Universitaire Vaudois (CHUV)
name: Andrew Dwyer, PhD, FNP-BC
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.