Effects and Importance of Epinephrine/Adrenalin Deficiency in CAH

NCT05162950 | Unknown

• 1 other identifier: CAH and epinephrine
• Study Type: observational
• Target: 120
• Locations: 1 country
• Sites: 1

Brief Summary

Individuals with CAH produce lower levels of epinephrine (adrenalin) than controls. This can be correlated to the CYP21A2 genotype and is most pronounced in the classic forms. Individuals with CAH have an increased risk of developing hypoglycemia because both cortisol and epinephrine are important counter regulatory hormones. Stress dosing is essential in situations of increased physical stress such as infections with fever for example. Glucocorticoid treatment and stress dosing cannot compensate fully during physical stress neither for the reaction to psychological stress. This may render various types of difficulties in the individual's life. We aim to investigate if the deficient epinephrine production can be confirmed and if it is related to the increased level of anxiety and vulnerability to stress that we observe in the patients. Specific aims of the study:

• Analyse the epinephrine/adrenalin production in patients with CAH using measurements of epinephrine and metanephrine in blood, during an exercise test
• Assess stress vulnerability and anxiety using validated questionnaires
• Correlate the results to severity of disease, CYP21A2 genotype
• Investigate if psychological and somatic stress symptoms are related to the epinephrine production capacity.

Conditions

Congenital Adrenal Hyperplasia

Outcome Measures

Primary Outcomes (1)

• epinephrine level

  Measured methoxy-catecholamine at maximum exercise test, cycling test.

  2022 December 31

Secondary Outcomes (5)

• Hospital Anxiety Depression Scale

  2022 December 31

• Mental Fatigue scale

  2022 December 31

• Liebowitz anxiety scale

  2022 December 31

• Karolinska Exhaustion disorder scale

  2022 December 31

• sleep questionnaire

  2022 December 31

Other Outcomes (2)

• Orthostatic blood pressure

  2022 December 31

• CYP21A2 genotype

  2022 December 31

Study Arms (5)

SW CAH

Patients with 21-hydroxylase deficiency, salt wasting form.

Diagnostic Test: physical exercise as a standardized high intensity exercise test; Behavioral: Stress vulnerability

SV CAH

Patients with 21-hydroxylase deficiency, simple virilising form.

Diagnostic Test: physical exercise as a standardized high intensity exercise test; Behavioral: Stress vulnerability

NC CAH

Patients with 21-hydroxylase deficiency, non-classic form.

Diagnostic Test: physical exercise as a standardized high intensity exercise test; Behavioral: Stress vulnerability

Carrier CAH

Healthy individuals, heterozygous carriers a mutation in the CYP21A2 gene. Recruited among parents of patients with CAH.

Diagnostic Test: physical exercise as a standardized high intensity exercise test; Behavioral: Stress vulnerability

Control

Healthy sex and age matched controls

Diagnostic Test: physical exercise as a standardized high intensity exercise test; Behavioral: Stress vulnerability

Interventions

physical exercise as a standardized high intensity exercise test DIAGNOSTIC_TEST

High intensity exercise test, cycling, performed at the Karolinska University Hospital

Carrier CAH; Control; NC CAH; SV CAH; SW CAH

Stress vulnerability BEHAVIORAL

Web based survey of validated psychological questionnaires measuring fatigue (MFS), exhaustion disorder (KEDS), anxiety (LSAS-SR, HADS), depression (HADS), and Karolinska sleep questionnaire

Also known as: Validated questionnaires

Carrier CAH; Control; NC CAH; SV CAH; SW CAH

Eligibility Criteria

• Age: 16 Years - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Men and women with congenital adrenal hyperplasia due to 21-hydroxylase deficienc. Sex and age matched controls.

You may qualify if:

• CAH due to 21-hydroxylase deficiency,

You may not qualify if:

• Cardiovascular disease

Sponsors & Collaborators

• Region Stockholm: lead

Study Sites (1)

Karolinska University hospital

Stockholm, (State), 17176, Sweden

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood tests

MeSH Terms

Conditions

Adrenal Hyperplasia, Congenital

Interventions

Exercise

Condition Hierarchy (Ancestors)

Adrenogenital Syndrome; 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; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Gonadal Disorders

Intervention Hierarchy (Ancestors)

Motor Activity; Movement; Musculoskeletal Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena

Study Officials

• Fredrika Gauffin, MDPhD

  Karolinska University Hospital

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Adj Professor, Senior Consultant

Study Record Dates

• First Submitted: December 5, 2021
• First Posted: December 20, 2021
• Study Start: September 1, 2020
• Primary Completion: December 31, 2022
• Study Completion: December 31, 2022
• Last Updated: January 11, 2022

Record last verified: 2021-12

Locations

SE (1)