NCT06864039

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

Quality of Life and Long-term Outcome of Transition-age Patients With Congenital Hypothyroidism Diagnosed by Newborn Screening and Adequately Treated

• Status: Enrolling By Invitation
• Phase: N/A
• Study type: Interventional
• Enrollment: 150 (estimated)
• Sponsor: Federico II University · Academic / Other
• Sex: All
• Age: 16 Years – 21 Years
• Healthy volunteers: Not accepted

Summary

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

Detailed 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

Conditions

• Congenital Hypothyroidism

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	SF36 test	Assessment of quality of life by administering the SF36 test
DIAGNOSTIC_TEST	WAIS IV test	Assessment of cognitive abilities by administering the WAIS IV test
DIAGNOSTIC_TEST	SCL-90 psychopathological screening questionnaire	Assessment of any psychopathological conditions by means of the SCL-90 psychopathological screening questionnaire
DIAGNOSTIC_TEST	CBCL questionnaire	For patients up to 18 years of age: CBCL questionnaire to be administered to parents to describe the patient's behavior
DIAGNOSTIC_TEST	bioimpedance analysis	Assessment of body composition by performing bioimpedance analysis

Timeline

• Start date: 2024-09-06
• Primary completion: 2025-12-31
• Completion: 2025-12-31
• First posted: 2025-03-07
• Last updated: 2025-03-07

Locations

1 site across 1 country: Italy