Clinical trial NCT06864039: Quality of Life and Long-term Outcome of Adequately Treated Congenital Hypothyroidism
Official title: Quality of Life and Long-term Outcome of Transition-age Patients With Congenital Hypothyroidism Diagnosed by Newborn Screening and Adequately Treated
Study type: INTERVENTIONAL
Overall status: ENROLLING_BY_INVITATION
Phase: NA
Conditions: Congenital Hypothyroidism
Keywords: quality of life
congenital hypothyroidism
treatment
newborn screening
outcome
Lead sponsor: Federico II University
Sponsor class: OTHER
First posted: 2025-03-07
Enrollment: 150
Sex: ALL
Minimum age (years): 16
Maximum age (years): 21
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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

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

Eligibility criteria: 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

Primary outcomes:
measure: Quality of life of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment.
timeFrame: evaluation of the long term outcomes at the time of enrolment
measure: Auxological outcome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment.
timeFrame: evaluation of the long term outcomes at the time of enrolment
measure: Intellectual outcome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment.
timeFrame: evaluation of the long term outcomes at the time of enrolment
measure: Psychopathological condition of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment.
timeFrame: evaluation of the long term outcomes at the time of enrolment
measure: Behovioral outcome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment.
timeFrame: evaluation of the long term outcomes at the time of enrolment
Secondary outcomes:
measure: Correlation between quality of life and type of congenital hypothyroidism
timeFrame: at time of enrollment
measure: Correlation between intellectual outcome and type of congenital hypothyroidism
timeFrame: at time of enrollment
measure: Correlation between psychopathological evaluation and type of congenital hypothyroidism
timeFrame: at time of enrollment
measure: Correlation between behovioral evaluation and type of congenital hypothyroidism
timeFrame: at time of enrollment
Other outcomes:
Locations:
city: Napoli
country: Italy
facility: Pediatric Endocrinology Program, Department of the Mother and the Child, University Federico II of Naples
Study officials:
References:
citation: 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.