Quality of Life and Long-term Outcome of Adequately Treated Congenital Hypothyroidism (CHQoL)

Federico II University

Status: Invitation-only

Conditions: Congenital Hypothyroidism

Treatments: Diagnostic Test: SCL-90 psychopathological screening questionnaire; Diagnostic Test: bioimpedance analysis; Diagnostic Test: CBCL questionnaire; Diagnostic Test: WAIS IV test; Diagnostic Test: SF36 test

Study type: Interventional

Funder types: Other

Identifiers

NCT06864039

245/2023

Details and patient eligibility

About

The primary objective of this observational study is the evaluation of the quality of life and long-term outccome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening receiving replacement treatment with levothyroxine.

The secondary objective is to relate the results to the form of hypothyroidism, the initial dose of L-T4, treatment adherence and genetics

Full description

The study protocol will be performed in 3 different phases:

Step1:

A) Enrollment of patients meeting the following criteria:

• diagnosis of congenital hypothyroidism through neonatal screening adequately treated with L-T4
• confirmation of the diagnosis of hypothyroidism upon re-evaluation of the diagnosis
• age 16-21 years at the time of enrollment

B) Information interview on the study and signing of informed consent by the patient and/or parent/guardian

C) Retrospective collection of the following parameters at diagnosis:

• Values of TSH, FT4 at diagnosis, initial dose of L-T4
• Thyroid ultrasound and scintigraphy reports
• Genetic investigation report if available

D) Retrospective collection for each year of follow-up of:

weight, height, TSH, FT4 and L-T4 dose

Step 2:

A) Clinical evaluation (Weight, Height, BMI, Waist and hip circumference, blood pressure) B) Evaluation of body composition by performing bioimpedance analysis C) Evaluation of quality of life through administration of the SF36 test D) Evaluation of cognitive abilities through administration of the WAIS IV test E) Evaluation of any psychopathological conditions through the SCL-90 psychopathological screening questionnaire F) For patients up to 18 years of age: CBCL questionnaire administered to parents to describe the patient's behaviour

Step 3:

Data collection and analysis of results

Enrollment: 150 estimated patients

Sex: All

Ages: 16 to 21 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Diagnosis of congenital hypothyroidism by neonatal screening
• Start of L-T4 therapy within the first month of life
• Confirmation of hypothyroidism condition upon reassessment of diagnosis

Exclusion criteria

• other chronic diseases and/or genetic syndromes
• family history of neuropsychiatric pathology
• familial dyslipidemia

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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150 participants in 1 patient group

Adolescents aged 16-21 years with congenital hypothyroidism diagnosed by newborn screening

Other group

Description:

A) Clinical assessment (Weight, Height, BMI, Waist and hip circumference, blood pressure) B) Assessment of body composition by performing bioimpedance analysis C) Assessment of quality of life by administering the SF36 test D) Assessment of cognitive abilities by administering the WAIS IV test E) Assessment of any psychopathological conditions by means of the SCL-90 psychopathological screening questionnaire F) For patients up to 18 years of age: CBCL questionnaire to be administered to parents to assess the patient's behavior

Treatment:

Diagnostic Test: SF36 test

Diagnostic Test: WAIS IV test

Diagnostic Test: CBCL questionnaire

Diagnostic Test: bioimpedance analysis

Diagnostic Test: SCL-90 psychopathological screening questionnaire