Health Needs of Patients With Kallmann Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01914172
Recruitment Status : Completed
First Posted : August 2, 2013
Last Update Posted : September 29, 2017
University of Lausanne
Information provided by (Responsible Party):
Andrew Dwyer, Centre Hospitalier Universitaire Vaudois

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.

Condition or disease Intervention/treatment
Kallmann Syndrome Congenital Hypogonadotropic Hypogonadism Idiopathic Hypogonadotropic Hypogonadism 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
Actual Enrollment : 249 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Factors Affecting Health Promoting Behavior in Rare Disease Patients: A Mixed Methods Study of Men With Congenital Hypogonadotropic Hypogonadism (CHH)
Study Start Date : July 2013
Actual Primary Completion Date : March 2014
Actual Study Completion Date : September 27, 2017

Resource links provided by the National Library of Medicine

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 Name: 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 Name: patient focus groups

Primary Outcome Measures :
  1. illness perception [ Time Frame: baseline ]
    subjective self-assessment questionnaire of how KS/CHH impacts a patient's life

  2. depression symptoms [ Time Frame: baseline ]
    self-rated questionnaire of depression symptoms

  3. adherence to treatment [ Time Frame: baseline ]
    self-report of adherence to medication treatment and periods without treatment or healthcare

  4. understandability and actionability of patient education materials [ Time Frame: baeline ]
    completion of Patient Education Materials Assessment Tool (PEMAT)

Secondary Outcome Measures :
  1. coping [ Time Frame: baseline ]
    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

  2. Interactions wth healthcare [ Time Frame: baseline ]
    A questionnaire reporting the quality and type of interactions with healthcare providers and the healthcare system

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 75 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Adults diagnosed with congenital hypogonadotropic hypogonadism/Kallmann syndrome will be recuited internationally.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01914172

Centre Hospitalier Universitaire Vaudois (CHUV)
Lausanne, Vaud, Switzerland, 1011
Sponsors and Collaborators
Centre Hospitalier Universitaire Vaudois
University of Lausanne
Principal Investigator: Andrew Dwyer, PhD, FNP-BC Centre Hositalier Universitaire Vaudois (CHUV)

Publications of Results:

Responsible Party: Andrew Dwyer, Assistant Professor, Centre Hospitalier Universitaire Vaudois Identifier: NCT01914172     History of Changes
Other Study ID Numbers: 233/13
233/13 ( Other Identifier: Commission Cantonale (Vaud) )
First Posted: August 2, 2013    Key Record Dates
Last Update Posted: September 29, 2017
Last Verified: September 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: Patient characteristics will be reported in aggregate (no identifiers)

Keywords provided by Andrew Dwyer, Centre Hospitalier Universitaire Vaudois:
rare disease
community-based participatory research
health promotion
quantitative research
qualitative research
focus group

Additional relevant MeSH terms:
Kallmann Syndrome
Rare Diseases
Pathologic Processes
Gonadal Disorders
Endocrine System Diseases
Disease Attributes
46, XY Disorders of Sex Development
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn