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Health Needs of Patients With Kallmann Syndrome

This study is ongoing, but not recruiting participants.
University of Lausanne
Information provided by (Responsible Party):
Andrew Dwyer, Centre Hospitalier Universitaire Vaudois Identifier:
First received: July 31, 2013
Last updated: July 6, 2016
Last verified: July 2016
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.

Kallmann Syndrome Congenital Hypogonadotropic Hypogonadism Idiopathic Hypogonadotropic Hypogonadism

Study Type: Observational
Study Design: 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)

Resource links provided by NLM:

Further study details as provided by Andrew Dwyer, Centre Hospitalier Universitaire Vaudois:

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

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

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

Secondary Outcome Measures:
  • 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

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

Estimated Enrollment: 148
Study Start Date: July 2013
Estimated Study Completion Date: December 2018
Primary Completion Date: March 2014 (Final data collection date for primary outcome measure)
Online web-based questionnaire
50-100 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 6-11 patients

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


Ages Eligible for Study:   18 Years to 70 Years   (Adult, Senior)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Adult men 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: 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)
  More Information

Additional Information:
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) )
Study First Received: July 31, 2013
Last Updated: July 6, 2016

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:
Rare Diseases
Kallmann Syndrome
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 processed this record on September 21, 2017