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

March 3, 2025 updated by: Prof.ssa Mariacarolina Salerno, Federico II University

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

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

Study Overview

Status

Enrolling by invitation

Conditions

Intervention / Treatment

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

Study Type

Interventional

Enrollment (Estimated)

150

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Italy
      • Napoli, Italy, 80131
        • Pediatric Endocrinology Program, Department of the Mother and the Child, University Federico II of Naples

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Adolescents aged 16-21 years with congenital hypothyroidism diagnosed by newborn screening
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
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Quality of life of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment.
Time Frame: evaluation of the long term outcomes at the time of enrolment
Administration of the SF36 questionnaire for the evaluation of quality of life in transition-age children with adequately treated congenital hypothyroidism
evaluation of the long term outcomes at the time of enrolment
Auxological outcome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment.
Time Frame: evaluation of the long term outcomes at the time of enrolment
weigh SDS, height SDS and BMI SDS assessment in transition-age children with adequately treated congenital hypothyroidism
evaluation of the long term outcomes at the time of enrolment
Intellectual outcome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment.
Time Frame: evaluation of the long term outcomes at the time of enrolment
Assessment of cognitive abilities through the administration of the WAIS IV
evaluation of the long term outcomes at the time of enrolment
Psychopathological condition of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment.
Time Frame: evaluation of the long term outcomes at the time of enrolment
Assessment of psychopathological conditions through the SCL-90 questionnaire
evaluation of the long term outcomes at the time of enrolment
Behovioral outcome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment.
Time Frame: evaluation of the long term outcomes at the time of enrolment
Administration of the CBCL questionnaire to parents of patients up to 18 years of age to describe the patient's behavior
evaluation of the long term outcomes at the time of enrolment

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Correlation between quality of life and type of congenital hypothyroidism
Time Frame: at time of enrollment
Correlation between quality of life and type of congenital hypothyroidism with Pearson's test
at time of enrollment
Correlation between intellectual outcome and type of congenital hypothyroidism
Time Frame: at time of enrollment
Correlation between intellectual outcome and type of congenital hypothyroidism with Pearson's test
at time of enrollment
Correlation between psychopathological evaluation and type of congenital hypothyroidism
Time Frame: at time of enrollment
Correlation between psychopathological evaluation and type of congenital hypothyroidism with Pearson's test
at time of enrollment
Correlation between behovioral evaluation and type of congenital hypothyroidism
Time Frame: at time of enrollment
Correlation between behovioral evaluation and type of congenital hypothyroidism with Pearson's test
at time of enrollment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Federico II University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 6, 2024

Primary Completion (Estimated)

December 31, 2025

Study Completion (Estimated)

December 31, 2025

Study Registration Dates

First Submitted

February 25, 2025

First Submitted That Met QC Criteria

March 3, 2025

First Posted (Actual)

March 25, 2025

Study Record Updates

Last Update Posted (Actual)

March 25, 2025

Last Update Submitted That Met QC Criteria

March 3, 2025

Last Verified

March 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 245/2023

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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