Congenital HypothyroidismCHQoLNCT06864039
Quality of Life and Long-term Outcome of Adequately Treated Congenital Hypothyroidism
A study testing SF36 test, WAIS IV test and SCL-90 psychopathological screening questionnaire in people with Congenital Hypothyroidism, run by Federico II University at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 16 to 21 years
- Conditions the study is for
- Congenital Hypothyroidism
- What is being tested?
- SF36 test, WAIS IV test and SCL-90 psychopathological screening questionnaire
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 150 participants
- Where
- 1 siteItaly
- Study dates
- 6 Sep 2024to 31 Dec 2025
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 to 21 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Who cannot join
- other chronic diseases and/or genetic syndromes
- family history of neuropsychiatric pathology
- familial dyslipidemia
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site
Pediatric Endocrinology Program, Department of the Mother and the Child, University Federico II of Naples
Naples, 80131
About this study
Official title: 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
Read the detailed description
The study protocol will be performed in 3 different phases:
Step1:
- 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
- Information interview on the study and signing of informed consent by the patient and/or parent/guardian
- 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
- Retrospective collection for each year of follow-up of: weight, height, TSH, FT4 and L-T4 dose
Step 2:
- 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
- Conditions
- Congenital Hypothyroidism
- Being tested
- SF36 test, WAIS IV test, SCL-90 psychopathological screening questionnaire, CBCL questionnaire, bioimpedance analysis
- Keywords
- quality of life, congenital hypothyroidism, treatment, newborn screening, outcome
- Medical subject headings
- Congenital Hypothyroidism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SF36 testDiagnostic test
Assessment of quality of life by administering the SF36 test
WAIS IV testDiagnostic test
Assessment of cognitive abilities by administering the WAIS IV test
SCL-90 psychopathological screening questionnaireDiagnostic test
Assessment of any psychopathological conditions by means of the SCL-90 psychopathological screening questionnaire
CBCL questionnaireDiagnostic test
For patients up to 18 years of age: CBCL questionnaire to be administered to parents to describe the patient's behavior
bioimpedance analysisDiagnostic test
Assessment of body composition by performing bioimpedance analysis
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Diagnostic Test: SF36 test; Diagnostic Test: WAIS IV test; Diagnostic Test: SCL-90 psychopathological screening questionnaire; Diagnostic Test: CBCL questionnaire; Diagnostic Test: bioimpedance analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: evaluation of the long term outcomes at the time of enrolment
Secondary outcomes (4)
Correlation between quality of life and type of congenital hypothyroidism
Correlation between quality of life and type of congenital hypothyroidism with Pearson's test
Measured: at time of enrollment
Correlation between intellectual outcome and type of congenital hypothyroidism
Correlation between intellectual outcome and type of congenital hypothyroidism with Pearson's test
Measured: at time of enrollment
Correlation between psychopathological evaluation and type of congenital hypothyroidism
Correlation between psychopathological evaluation and type of congenital hypothyroidism with Pearson's test
Measured: at time of enrollment
Correlation between behovioral evaluation and type of congenital hypothyroidism
Correlation between behovioral evaluation and type of congenital hypothyroidism with Pearson's test
Measured: at time of enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Mar 2025
- Study start6 Sep 2024
- Primary completion31 Dec 2025 (estimated)
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Congenital HypothyroidismStudies of the same condition, open and under way.
- More trials run by Federico II UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Federico II University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Prof.ssa Mariacarolina Salerno, Federico II University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06864039
- Sponsor's protocol ID
- 245/2023
- Acronym
- CHQoL
- Status last verified
- Mar 2025
- First submitted
- 25 Feb 2025
- Last updated
- 7 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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.
PubMed 21389139
Study at a glance
From the registry record, last updated by the sponsor on 7 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Quality of Life and Long-term Outcome of Transition-age Patients With Congenital Hypothyroidism Diagnosed by Newborn Screening and Adequately Treated
- ClinicalTrials.gov ID
- NCT06864039
- Acronym / sponsor ID
- CHQoL / 245/2023
- Conditions
- Congenital Hypothyroidism
- Keywords
- quality of life, congenital hypothyroidism, treatment, newborn screening, outcome
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Federico II UniversityUniversity, hospital or other
- Study start
- 6 Sep 2024 (actual)
- Primary completion
- 31 Dec 2025 (estimated)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 7 Mar 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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
- Information interview on the study and signing of informed consent by the patient and/or parent/guardian
- 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
- Retrospective collection for each year of follow-up of: weight, height, TSH, FT4 and L-T4 dose
Step 2:
- 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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Adolescents aged 16-21 years with congenital hypothyroidism diagnosed by newborn screening | Other | Diagnostic Test: SF36 test, Diagnostic Test: WAIS IV test, Diagnostic Test: SCL-90 psychopathological screening questionnaire, Diagnostic Test: CBCL questionnaire, Diagnostic Test: bioimpedance analysisA) 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 |
Who may qualify
- Ages
- 16 to 21 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (3 listed)
- other chronic diseases and/or genetic syndromes
- family history of neuropsychiatric pathology
- familial dyslipidemia
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| SF36 testAssessment of quality of life by administering the SF36 test | Diagnostic test | Adolescents aged 16-21 years with congenital hypothyroidism diagnosed by newborn screening |
| WAIS IV testAssessment of cognitive abilities by administering the WAIS IV test | Diagnostic test | Adolescents aged 16-21 years with congenital hypothyroidism diagnosed by newborn screening |
| SCL-90 psychopathological screening questionnaireAssessment of any psychopathological conditions by means of the SCL-90 psychopathological screening questionnaire | Diagnostic test | Adolescents aged 16-21 years with congenital hypothyroidism diagnosed by newborn screening |
| CBCL questionnaireFor patients up to 18 years of age: CBCL questionnaire to be administered to parents to describe the patient's behavior | Diagnostic test | Adolescents aged 16-21 years with congenital hypothyroidism diagnosed by newborn screening |
| bioimpedance analysisAssessment of body composition by performing bioimpedance analysis | Diagnostic test | Adolescents aged 16-21 years with congenital hypothyroidism diagnosed by newborn screening |
Primary outcome
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
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
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
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
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
4 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Mar 2025.
- Background: PubMed 21389139Leger 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing SF36 test, WAIS IV test and SCL-90 psychopathological screening questionnaire in people with Congenital Hypothyroidism, run by Federico II University at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 7 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06864039, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Mar 2025.