Health Needs of Patients With Kallmann Syndrome

NCT01914172 | Completed

• 1 other identifier: 233/13
• Study Type: observational
• Target: 249
• Locations: 1 country
• Sites: 1

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.

Conditions

Kallmann Syndrome; Congenital Hypogonadotropic Hypogonadism; Idiopathic Hypogonadotropic Hypogonadism

Keywords

rare disease; community-based participatory research; health promotion; quantitative research; qualitative research; focus group

Outcome Measures

Primary Outcomes (4)

• 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 Outcomes (2)

• coping

  baseline

• Interactions wth healthcare

  baseline

Study Arms (3)

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

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

Interventions

online questionairres OTHER

see group descriptions

Also known as: patient focus groups

Online web-based evaluation of patient education materials; Online web-based questionnaire

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• other diagnosis of hypogonadism: i.e. hypergonadotropic hypogonadism (Klinefelter syndrome), adult onset hypogonadism, etc.

Sponsors & Collaborators

• Centre Hospitalier Universitaire Vaudois: lead
• University of Lausanne: collaborator

Study Sites (1)

Centre Hospitalier Universitaire Vaudois (CHUV)

Lausanne, Canton of Vaud, 1011, Switzerland

Location

Related Publications (5)

• 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.

  PMID: 24915927 RESULT

• 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.

  PMID: 25844173 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.

  PMID: 27647266 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.

  PMID: 28698240 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.

  PMID: 28320476 RESULT

MeSH Terms

Conditions

Kallmann Syndrome; Idiopathic Hypogonadotropic Hypogonadism; Rare Diseases

Condition Hierarchy (Ancestors)

Disorder of Sex Development, 46,XY; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Hypogonadism; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Andrew Dwyer, PhD, FNP-BC

  Centre Hositalier Universitaire Vaudois (CHUV)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: July 31, 2013
• First Posted: August 2, 2013
• Study Start: July 1, 2013
• Primary Completion: March 1, 2014
• Study Completion: September 27, 2017
• Last Updated: September 29, 2017

Record last verified: 2017-09

Data Sharing

• IPD Sharing: Will not share

Locations

CH (1)