Health Needs of Patients With Kallmann Syndrome

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

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.

Study Overview

• Status: Completed
• Conditions: Kallmann Syndrome; Idiopathic Hypogonadotropic Hypogonadism; Congenital Hypogonadotropic Hypogonadism
• Intervention / Treatment: Other: online questionairres

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

• Study Type: Observational
• Enrollment (Actual): 249

Contacts and Locations

Study Locations

• Switzerland
  • Vaud
    • Lausanne, Vaud, Switzerland, 1011
      • Centre Hospitalier Universitaire Vaudois (CHUV)

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years to 71 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Adults diagnosed with congenital hypogonadotropic hypogonadism/Kallmann syndrome will be recuited internationally.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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)	Other: online questionairres; see group descriptions; Other Names: patient focus groups
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)	Other: online questionairres; see group descriptions; Other Names: patient focus groups

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire Vaudois
• Collaborators: University of Lausanne
• Investigators: Principal Investigator: Andrew Dwyer, PhD, FNP-BC, Centre Hositalier Universitaire Vaudois (CHUV)

Publications and helpful links

General Publications

• 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.
• 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.
• 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.
• 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.
• 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.

Study record dates

Study Major Dates

• Study Start: July 1, 2013
• Primary Completion (Actual): March 1, 2014
• Study Completion (Actual): September 27, 2017

Study Registration Dates

• First Submitted: July 31, 2013
• First Submitted That Met QC Criteria: July 31, 2013
• First Posted (Estimate): August 2, 2013

Study Record Updates

• Last Update Posted (Actual): September 29, 2017
• Last Update Submitted That Met QC Criteria: September 27, 2017
• Last Verified: September 1, 2017

More Information

Terms related to this study

• Keywords: rare disease; health promotion; community-based participatory research; qualitative research; focus group; quantitative research
• Additional Relevant MeSH Terms: Pathologic Processes; Endocrine System Diseases; Disease; Gonadal Disorders; Disorders of Sex Development; Urogenital Abnormalities; Congenital Abnormalities; Genetic Diseases, Inborn; Disorder of Sex Development, 46,XY; Syndrome; Kallmann Syndrome; Hypogonadism
• Other Study ID Numbers: 233/13 (Other Identifier: Commission Cantonale (Vaud))

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No
• IPD Plan Description: Patient characteristics will be reported in aggregate (no identifiers)