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

Официальное название

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

Обзор

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

Подробное описание

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

Вмешательства

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

Первичные конечные точки

• Quality of life of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening on levothyroxine replacement treatment. [Срок оценки: 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. [Срок оценки: 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. [Срок оценки: 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. [Срок оценки: 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. [Срок оценки: evaluation of the long term outcomes at the time of enrolment]

Вторичные конечные точки (4)

• Correlation between quality of life and type of congenital hypothyroidism [Срок оценки: at time of enrollment]
• Correlation between intellectual outcome and type of congenital hypothyroidism [Срок оценки: at time of enrollment]
• Correlation between psychopathological evaluation and type of congenital hypothyroidism [Срок оценки: at time of enrollment]
• Correlation between behovioral evaluation and type of congenital hypothyroidism [Срок оценки: at time of enrollment]

Критерии участия

Критерии включения

• 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

Критерии исключения

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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Распределение

Не применимо

Модель

Одна группа

Маскирование

Открытое

Основная цель

Лечение

Центры проведения

Италия · 1 центр

• Pediatric Endocrinology Program, Department of the Mother and the Child, University Federi — Naples

Публикации

• 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

Идентификаторы

NCT: NCT06864039 · 245/2023

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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