Ignite Creation Date:
2025-12-24 @ 5:18 PM
Ignite Modification Date:
2025-12-25 @ 2:55 PM
Study NCT ID:
NCT05162950
Status:
UNKNOWN
Last Update Posted:
2022-01-11
First Post:
2021-12-05
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Effects and Importance of Epinephrine/Adrenalin Deficiency in CAH
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000312', 'term': 'Adrenal Hyperplasia, Congenital'}], 'ancestors': [{'id': 'D047808', 'term': 'Adrenogenital Syndrome'}, {'id': 'D012734', 'term': 'Disorders of Sex Development'}, {'id': 'D014564', 'term': 'Urogenital Abnormalities'}, {'id': 'D052776', 'term': 'Female Urogenital Diseases'}, {'id': 'D005261', 'term': 'Female Urogenital Diseases and Pregnancy Complications'}, {'id': 'D000091642', 'term': 'Urogenital Diseases'}, {'id': 'D052801', 'term': 'Male Urogenital Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D043202', 'term': 'Steroid Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D000307', 'term': 'Adrenal Gland Diseases'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}, {'id': 'D006058', 'term': 'Gonadal Disorders'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D015444', 'term': 'Exercise'}], 'ancestors': [{'id': 'D009043', 'term': 'Motor Activity'}, {'id': 'D009068', 'term': 'Movement'}, {'id': 'D009142', 'term': 'Musculoskeletal Physiological Phenomena'}, {'id': 'D055687', 'term': 'Musculoskeletal and Neural Physiological Phenomena'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'Blood tests'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 120}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2020-09-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-12', 'completionDateStruct': {'date': '2022-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2021-12-17', 'studyFirstSubmitDate': '2021-12-05', 'studyFirstSubmitQcDate': '2021-12-17', 'lastUpdatePostDateStruct': {'date': '2022-01-11', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-12-20', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2022-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'otherOutcomes': [{'measure': 'Orthostatic blood pressure', 'timeFrame': '2022 December 31', 'description': 'Blood pressure measured lying down and standing for 10 minutes'}, {'measure': 'CYP21A2 genotype', 'timeFrame': '2022 December 31', 'description': 'mutation analysis'}], 'primaryOutcomes': [{'measure': 'epinephrine level', 'timeFrame': '2022 December 31', 'description': 'Measured methoxy-catecholamine at maximum exercise test, cycling test.'}], 'secondaryOutcomes': [{'measure': 'Hospital Anxiety Depression Scale', 'timeFrame': '2022 December 31', 'description': 'stress vulnerability'}, {'measure': 'Mental Fatigue scale', 'timeFrame': '2022 December 31', 'description': 'stress vulnerability'}, {'measure': 'Liebowitz anxiety scale', 'timeFrame': '2022 December 31', 'description': 'stress vulnerability'}, {'measure': 'Karolinska Exhaustion disorder scale', 'timeFrame': '2022 December 31', 'description': 'stress vulnerability'}, {'measure': 'sleep questionnaire', 'timeFrame': '2022 December 31', 'description': 'stress vulnerability'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Congenital Adrenal Hyperplasia']}, 'descriptionModule': {'briefSummary': "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.\n\nGlucocorticoid 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.\n\nWe 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.\n\nSpecific aims of the study:\n\n* Analyse the epinephrine/adrenalin production in patients with CAH using measurements of epinephrine and metanephrine in blood, during an exercise test\n* Assess stress vulnerability and anxiety using validated questionnaires\n* Correlate the results to severity of disease, CYP21A2 genotype\n* Investigate if psychological and somatic stress symptoms are related to the epinephrine production capacity.", 'detailedDescription': 'After written informed consent study subjects, patients and controls, are invited to fill in a web based survey with the validated questionnaires. A link to the survey, expected to take 30 - 60 minutes to complete, is mailed to to the subjects . A subgroup of study subjects are invited to perform an ergo-spirometri test followed by the exercise test at the hospital. They are asked not to eat for 6 hours or drink any coffe during the day before the test. A venous catheter is used for blood sampling during the exercise. ECG, an orthostatic blood pressure test and a the ergo-spirometry test are performed before the subject is asked to do the exercise test, a cycling maximum test. Blood glucose, lactate, are followed every 4 minutes. Adrenal androgens, cortisol, insulin and methoxy-catecholamine are measured before and when the subject has reached maximum effort load and the test is ended.\n\nThe physical capacity, orthostatic blood pressure and the blood test results are related to the severity of CAH and to the maximum level of methoxy-cathecholamine produced by each individual. In the larger group of individuals, not taking part in the exercise test but completing the survey the genotype is correlated to the questionnaire results.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '65 Years', 'minimumAge': '16 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Men and women with congenital adrenal hyperplasia due to 21-hydroxylase deficienc. Sex and age matched controls.', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* CAH due to 21-hydroxylase deficiency,\n\nExclusion Criteria:\n\n* Cardiovascular disease'}, 'identificationModule': {'nctId': 'NCT05162950', 'briefTitle': 'Effects and Importance of Epinephrine/Adrenalin Deficiency in CAH', 'organization': {'class': 'OTHER_GOV', 'fullName': 'Region Stockholm'}, 'officialTitle': 'Effects and Importance of Epinephrine/Adrenalin Deficiency in CAH', 'orgStudyIdInfo': {'id': 'CAH and epinephrine'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'SW CAH', 'description': 'Patients with 21-hydroxylase deficiency, salt wasting form.', 'interventionNames': ['Diagnostic Test: physical exercise as a standardized high intensity exercise test', 'Behavioral: Stress vulnerability']}, {'label': 'SV CAH', 'description': 'Patients with 21-hydroxylase deficiency, simple virilising form.', 'interventionNames': ['Diagnostic Test: physical exercise as a standardized high intensity exercise test', 'Behavioral: Stress vulnerability']}, {'label': 'NC CAH', 'description': 'Patients with 21-hydroxylase deficiency, non-classic form.', 'interventionNames': ['Diagnostic Test: physical exercise as a standardized high intensity exercise test', 'Behavioral: Stress vulnerability']}, {'label': 'Carrier CAH', 'description': 'Healthy individuals, heterozygous carriers a mutation in the CYP21A2 gene. Recruited among parents of patients with CAH.', 'interventionNames': ['Diagnostic Test: physical exercise as a standardized high intensity exercise test', 'Behavioral: Stress vulnerability']}, {'label': 'Control', 'description': 'Healthy sex and age matched controls', 'interventionNames': ['Diagnostic Test: physical exercise as a standardized high intensity exercise test', 'Behavioral: Stress vulnerability']}], 'interventions': [{'name': 'physical exercise as a standardized high intensity exercise test', 'type': 'DIAGNOSTIC_TEST', 'description': 'High intensity exercise test, cycling, performed at the Karolinska University Hospital', 'armGroupLabels': ['Carrier CAH', 'Control', 'NC CAH', 'SV CAH', 'SW CAH']}, {'name': 'Stress vulnerability', 'type': 'BEHAVIORAL', 'otherNames': ['Validated questionnaires'], 'description': 'Web based survey of validated psychological questionnaires measuring fatigue (MFS), exhaustion disorder (KEDS), anxiety (LSAS-SR, HADS), depression (HADS), and Karolinska sleep questionnaire', 'armGroupLabels': ['Carrier CAH', 'Control', 'NC CAH', 'SV CAH', 'SW CAH']}]}, 'contactsLocationsModule': {'locations': [{'zip': '17176', 'city': 'Stockholm', 'state': '(State)', 'country': 'Sweden', 'facility': 'Karolinska University hospital', 'geoPoint': {'lat': 59.32938, 'lon': 18.06871}}], 'overallOfficials': [{'name': 'Fredrika Gauffin, MDPhD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Karolinska University Hospital'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Region Stockholm', 'class': 'OTHER_GOV'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Adj Professor, Senior Consultant', 'investigatorFullName': 'Anna Jung Nordenstrom', 'investigatorAffiliation': 'Region Stockholm'}}}}