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

NCT06864039 | Enrolling By Invitation

• 1 other identifier: 245/2023
• Study Type: interventional
• Target: 150
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Congenital Hypothyroidism

Keywords

quality of life; congenital hypothyroidism; treatment; newborn screening; outcome

Outcome Measures

Primary Outcomes (5)

• Quality of life of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment.

  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.

  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.

  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.

  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.

  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 Outcomes (4)

• Correlation between quality of life and type of congenital hypothyroidism

  at time of enrollment

• Correlation between intellectual outcome and type of congenital hypothyroidism

  at time of enrollment

• Correlation between psychopathological evaluation and type of congenital hypothyroidism

  at time of enrollment

• Correlation between behovioral evaluation and type of congenital hypothyroidism

  at time of enrollment

Study Arms (1)

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

OTHER

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

Interventions

SF36 test DIAGNOSTIC_TEST

Assessment of quality of life by administering the SF36 test

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

WAIS IV test DIAGNOSTIC_TEST

Assessment of cognitive abilities by administering the WAIS IV test

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

SCL-90 psychopathological screening questionnaire DIAGNOSTIC_TEST

Assessment of any psychopathological conditions by means of the SCL-90 psychopathological screening questionnaire

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

CBCL questionnaire DIAGNOSTIC_TEST

For patients up to 18 years of age: CBCL questionnaire to be administered to parents to describe the patient's behavior

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

bioimpedance analysis DIAGNOSTIC_TEST

Assessment of body composition by performing bioimpedance analysis

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

Eligibility Criteria

• Age: 16 Years - 21 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Federico II University: lead

Study Sites (1)

Pediatric Endocrinology Program, Department of the Mother and the Child, University Federico II of Naples

Napoli, 80131, Italy

Location

Related Publications (1)

• Leger J, Ecosse E, Roussey M, Lanoe JL, Larroque B; French Congenital Hypothyroidism Study Group. Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study. J Clin Endocrinol Metab. 2011 Jun;96(6):1771-82. doi: 10.1210/jc.2010-2315. Epub 2011 Mar 9.

  PMID: 21389139 BACKGROUND

MeSH Terms

Conditions

Congenital Hypothyroidism

Condition Hierarchy (Ancestors)

Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Bone Diseases, Endocrine; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hypothyroidism; Thyroid Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Full Professor

Study Record Dates

• First Submitted: February 25, 2025
• First Posted: March 7, 2025
• Study Start: September 6, 2024
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: March 7, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)