Turner And Klinefelter Treatment Target Study

NCT04803474 | Unknown

• 1 other identifier: NL65814.078.18
• Study Type: observational
• Target: 370
• Locations: 1 country
• Sites: 1

Brief Summary

Rationale: Health related Quality of life (HRQoL) is impaired in patients with Turner and Klinefelter syndrome (TS and KS). It is unknown what the optimal endocrine treatment target values are that maximize HRQoL in patients with these syndromes. Therefore the relation between HRQoL and biochemical parameters will be studied in large cohorts of patients with TS and KS. This information will give essential insight that will help to improve endocrine treatment and HRQoL in these patients. Research objectives: To explore the relationship between biochemical parameters and HRQoL in patients with TS and KS. Hypothesis: Biochemical parameters are related to HRQoL in patients with TS and KS. Study design: Cross-sectional, observational, multicentre study Study population: Patients with KS or TS, 18 years or older Methods and procedures: To measure fatigue the Checklist Individual Strength (CIS-20) will be used, for QoL the 5-level EQ-5D (EQ-5D-L5) will be used and for stress the Perceived Stress Scale (PSS) and hair cortisol levels. For patients with KS the anxiety scale from the Liebowitz social anxiety scale (LSAS) will be used to measure social anxiety. To measure the long-term exposure to testosterone in KS patients, testosterone concentrations in hair will be measured. For patients with KS, all questions from the questionnaires will be discussed orally during a visit to the outpatients clinic. One extra tube of blood and a strand of hair will be collected during routine blood withdrawal. All other variables are already part of the standard patient care and are available in patient records. For patients with TS all information including the questionnaires and laboratory values is already available and will be collected from clinical records. Main study parameters/endpoints: The relationship between different hormonal parameters and HRQoL as measured by questionnaires. The main hormonal parameter that will be investigated in KS is testosterone in hair. For patients with Turner syndrome, free thyroxine (FT4), thyroid stimulating hormone (TSH) and liver enzymes, which have already been collected, will be investigated. The relationships between the EQ-5D-L5 score and testosterone in hair (in patients with KS) and thyroid hormone status (in patients with TS) are the primary outcomes.

Conditions

Klinefelter Syndrome; Turner Syndrome

Outcome Measures

Primary Outcomes (2)

• The relationship between thyroid hormone status* and QoL as measured by the EQ-5D-5L in patients with TS.

  thyroid hormone status is a variable that consists of the following 6 categories: * Overt hyperthyroidism (FT4\>25pmol/L and TSH\<0,4mU/L) * Overt hypothyroidism (FT4 \<11 pmol/L and TSH \>4,3 mU/L) * Subclinical hypothyroidism with TSH \<10mU/L (FT4 11-25 pmol/L and TSH 4,3-10mU/L) * Subclinical hypothyroidism with TSH \>10mU/L (FT4 11-25 pmol/L and TSH \> 10mU/L) * Subclinical hyperthyroidism (FT4 11-25 pmol/L and TSH \<0,4 mU/L) * Euthyroidism (FT4 11-25 pmol/L and TSH 0,4- 4,3 mU/L) The range of the EQ-5D-5L is from 0 to 100. A higher score means a better outcome.

  At study entry (cross-sectional study). There is just one visit per patient. The total study has an approximately duration of 3-4 years.

• The relationship between testosterone concentrations in hair and QoL as measured by the EQ-5D-5L in patients with KS.

  The range of the EQ-5D-5L is from 0 to 100. A higher score means a better outcome.

  At study entry (cross-sectional study). There is just one visit per patient. The total study has an approximately duration of 3-4 years.

Study Arms (2)

Klinefelter

Patients with Klinefelter syndrome

Diagnostic Test: Measurement of blood values, questionnaire scores and measurements of hormone levels in hair

Turner

Patient with Turner syndrome

Diagnostic Test: Measurement of blood values, questionnaire scores and measurements of hormone levels in hair

Interventions

Measurement of blood values, questionnaire scores and measurements of hormone levels in hair DIAGNOSTIC_TEST

Measurement of blood values, questionnaire scores and measurements of hormone levels in hair

Klinefelter; Turner

Eligibility Criteria

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

Study Population

All patients with KS and TS of 18 years or older that visit the outpatients clinic of the EMC, AMC or the VUmc will be included. Approximately 120 KS and 250 TS patients are intended to be included.

You may qualify if:

• Klinefelter or Turner syndrome as confirmed by genetic testing
• Sufficient knowledge of the Dutch language to complete the questionnaires
• At least 18 years old

You may not qualify if:

• KS: Patients not under treatment in the EMC, AMC or VUmc or no planned visits during the study period
• TS: No laboratory values or no questionnaires available in patient records
• Severe psychiatric or neurologic disorders or other reasons for inability to complete the questionnaires as assessed by the treating physician.
• Failure to obtain informed consent

Sponsors & Collaborators

• dr. Laura C. G. de Graaff-Herder: lead

Study Sites (1)

Erasmus Medical Center

Rotterdam, South Holland, 3015 GD, Netherlands

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

Klinefelter Syndrome; Turner Syndrome

Condition Hierarchy (Ancestors)

Sex Chromosome Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Hypogonadism; Gonadal Dysgenesis; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases

Study Officials

• Laura de Graaff, MD, PhD

  Department of Internal Medicine - Endocrinology, Erasmus MC, Rotterdam, the Netherlands

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Laura de Graaff, MD, PhD

CONTACT

+31618843010; l.degraaff@erasmusmc.nl

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal investigator

Study Record Dates

• First Submitted: July 2, 2020
• First Posted: March 17, 2021
• Study Start: July 1, 2018
• Primary Completion: July 1, 2024
• Study Completion: December 1, 2024
• Last Updated: September 6, 2023

Record last verified: 2023-09

Data Sharing

• IPD Sharing: Will not share

Locations

NL (1)