Quality of Life and Long-term Outcome of Adequately Treated Congenital Hypothyroidism
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: SF36 test, WAIS IV test, SCL-90 psychopathological screening questionnaire, CBCL questionnaire.
- Who it may be relevant to
- Registry conditions: Congenital Hypothyroidism. Basic parameters: 16 years — 21 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Quality of Life and Long-term Outcome of Transition-age Patients With Congenital Hypothyroidism Diagnosed by Newborn Screening and Adequately Treated
Overview
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
Interventions
- 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
Primary outcome measures
- 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]
- 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]
- 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]
- 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]
- 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]
Secondary outcome measures (4)
- Correlation between quality of life and type of congenital hypothyroidism [Time frame: at time of enrollment]
- Correlation between intellectual outcome and type of congenital hypothyroidism [Time frame: at time of enrollment]
- Correlation between psychopathological evaluation and type of congenital hypothyroidism [Time frame: at time of enrollment]
- Correlation between behovioral evaluation and type of congenital hypothyroidism [Time frame: at time of enrollment]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Treatment
Study locations
Italy · 1 center
- Pediatric Endocrinology Program, Department of the Mother and the Child, University Federi — Naples
Publications
- 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
Identifiers
NCT: NCT06864039 · 245/2023