Congenital Hypothyroidism2022E5SZEMNCT07893522
Understanding the Subnormal Rescue ofNeurological Development in Congenital Hypothyroidism (2022E5SZEM)
An observational study of Congenital Hypothyroidism and Neurodevelopmental Disorders, run by Istituto Giannina Gaslini at 3 sites in Italy.
Trial summary
Congenital hypothyroidism (CH) is a condition present at birth in which the thyroid gland does not produce enough thyroid hormones. These hormones are essential for normal brain development. Read more about this study
- Who is it for?
- Ages 28 days and older
- Conditions the study is for
- Congenital Hypothyroidism, Neurodevelopmental Disorders
- How many people
- 178 participants
- Where
- 3 sitesItaly
- Study dates
- 20 Jun 2024to Dec 2026
- Phase
- Observational
- 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 28 days and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study population will include adults and children with congenital hypothyroidism (CH), children with mild neonatal hyperthyrotropinemia (MNH), family members of patients with CH, and healthy control participants without thyroid-related conditions or other conditions that could interfere with study procedures. The study will include 39 patients with CH and 39 age- and sex-matched controls, as well as 50 children with MNH and 50 control participants. Participants will undergo clinical and biochemical data collection and metabolomic analyses. Genetic and epigenetic analyses will be performed in patients with CH and MNH, while epigenetic and metabolomic analyses will be performed in the corresponding control groups.
Who may be able to join
- Adults and minors with congenital hypothyroidism (CH).
- Family members of patients with CH.
- Healthy controls without thyroid-related conditions or other conditions that could interfere with the study.
Who cannot join
- Refusal to provide informed consent to participate in the study.
- Intercurrent conditions or severe comorbidities that could interfere with study procedures.
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy3 sites, 3 recruiting
- Recruiting
IRCCS Istituto G. Gaslini
Genova, 16147
Mohamad Maghnie, Professor, +39 01056362574, mohamadmaghnie@gaslini.org
- Recruiting
Istituto Auxologico Milano
Milan, 20145
Luca Persani, Professor, +39 02 6191 12738., luca.persani@unimi.it
- Recruiting
UOS di Endocrinologia Pediatrica del Dipartimento Assistenziale ad Attivita' Integrata Materno nfantile dell'Azienda Ospedaliera Universitaria Federico II di Napoli
Naples, 80131
NA NA
About this study
Official title: Understanding the Subnormal Rescue ofNeurological Development in Congenital Hypothyroidism (Comprendere le Ragioni Dell'Incompleta Correzione Dei Difetti Dello Sviluppo Neurologico Nell'Ipotiroidismo Congenito)
Congenital hypothyroidism (CH) is a condition present at birth in which the thyroid gland does not produce enough thyroid hormones. These hormones are essential for normal brain development. Although early diagnosis through newborn screening and treatment with thyroid hormone help prevent serious learning difficulties, some children with CH may still experience difficulties with thinking, learning, or development.
This study aims to understand why some children with CH do not achieve the expected level of neurological and cognitive development despite early treatment. The researchers will study 39 patients with CH and compare them with 39 similar individuals without the condition. They will also study 50 children with mild neonatal hyperthyrotropinemia (MNH), a condition involving mildly elevated thyroid-stimulating hormone levels, and compare them with 50 children without the condition.
Read more
The study will assess medical information, growth measurements, and cognitive test results. Genetic testing will be used to identify changes in genes that may affect thyroid function or brain development. The researchers will also examine chemical changes that regulate how genes work, known as epigenetic changes, and analyze blood samples to identify differences in substances involved in the body's metabolism.
By combining these findings, the study aims to identify factors associated with less favorable developmental outcomes and potential markers that may help identify children at risk. The results may improve understanding of congenital thyroid disorders and support earlier recognition of children who may need additional assessment or individualized care.
- Medical subject headings
- Congenital Hypothyroidism, Neurodevelopmental Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Congenital Hypothyroidism (CH) | Not described | |
| Healthy Controls Matched for Age and Sex - CH | Not described | |
| Mild Neonatal Hyperthyrotropinemia (MNH) | Not described | |
| Healthy Controls - MNH | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic mechanisms associated with neurological and cognitive outcomes in patients with congenital hypothyroidism
Genetic alterations identified through targeted next-generation sequencing (NGS) gene panel analysis or whole-exome sequencing (WES) in selected patients with congenital hypothyroidism (CH), and their association with neurological and cognitive outcomes.
Measured: At baseline
Association of epigenetic and metabolomic profiles with neurological and cognitive outcomes
Association between DNA methylation patterns, circulating metabolic markers, and neurological and cognitive outcomes in patients with congenital hypothyroidism (CH) and mild neonatal hyperthyrotropinemia (MNH), compared with control groups.
Measured: At baseline; additional biological samples may be collected during the study, if required for validation of epigenetic findings
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Oct 2026
- Study start20 Jun 2024
- Primary completion5 Dec 2025
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital HypothyroidismStudies of the same condition, open and under way.
- 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
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 178 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Giannina Gaslini
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07893522
- Sponsor's protocol ID
- 2022E5SZEM (13865)
- Acronym
- 2022E5SZEM
- Status last verified
- Oct 2026
- First submitted
- 12 Oct 2026
- Last updated
- 26 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Understanding the Subnormal Rescue ofNeurological Development in Congenital Hypothyroidism (Comprendere le Ragioni Dell'Incompleta Correzione Dei Difetti Dello Sviluppo Neurologico Nell'Ipotiroidismo Congenito)
- ClinicalTrials.gov ID
- NCT07893522
- Acronym / sponsor ID
- 2022E5SZEM / 2022E5SZEM (13865)
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 178 participants (estimated)
- Lead sponsor
- Istituto Giannina GasliniUniversity, hospital or other
- Study start
- 20 Jun 2024 (actual)
- Primary completion
- 5 Dec 2025 (actual)
- Study completion
- Dec 2026 (estimated)
- First posted
- 26 Oct 2026 (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.
Congenital hypothyroidism (CH) is a condition present at birth in which the thyroid gland does not produce enough thyroid hormones. These hormones are essential for normal brain development. Although early diagnosis through newborn screening and treatment with thyroid hormone help prevent serious learning difficulties, some children with CH may still experience difficulties with thinking, learning, or development.
This study aims to understand why some children with CH do not achieve the expected level of neurological and cognitive development despite early treatment. The researchers will study 39 patients with CH and compare them with 39 similar individuals without the condition. They will also study 50 children with mild neonatal hyperthyrotropinemia (MNH), a condition involving mildly elevated thyroid-stimulating hormone levels, and compare them with 50 children without the condition.
The study will assess medical information, growth measurements, and cognitive test results. Genetic testing will be used to identify changes in genes that may affect thyroid function or brain development. The researchers will also examine chemical changes that regulate how genes work, known as epigenetic changes, and analyze blood samples to identify differences in substances involved in the body's metabolism.
By combining these findings, the study aims to identify factors associated with less favorable developmental outcomes and potential markers that may help identify children at risk. The results may improve understanding of congenital thyroid disorders and support earlier recognition of children who may need additional assessment or individualized care.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Congenital Hypothyroidism (CH) | – | – |
| Healthy Controls Matched for Age and Sex - CH | – | – |
| Mild Neonatal Hyperthyrotropinemia (MNH) | – | – |
| Healthy Controls - MNH | – | – |
Who may qualify
- Ages
- 28 days and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study population will include adults and children with congenital hypothyroidism (CH), children with mild neonatal hyperthyrotropinemia (MNH), family members of patients with CH, and healthy control participants without thyroid-related conditions or other conditions that could interfere with study procedures. The study will include 39 patients with CH and 39 age- and sex-matched controls, as well as 50 children with MNH and 50 control participants. Participants will undergo clinical and biochemical data collection and metabolomic analyses. Genetic and epigenetic analyses will be performed in patients with CH and MNH, while epigenetic and metabolomic analyses will be performed in the corresponding control groups.
Key inclusion criteria (3 listed)
- Adults and minors with congenital hypothyroidism (CH).
- Family members of patients with CH.
- Healthy controls without thyroid-related conditions or other conditions that could interfere with the study.
Key exclusion criteria (2 listed)
- Refusal to provide informed consent to participate in the study.
- Intercurrent conditions or severe comorbidities that could interfere with study procedures.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Genetic mechanisms associated with neurological and cognitive outcomes in patients with congenital hypothyroidism
Time frame: At baseline
Genetic alterations identified through targeted next-generation sequencing (NGS) gene panel analysis or whole-exome sequencing (WES) in selected patients with congenital hypothyroidism (CH), and their association with neurological and cognitive outcomes.
Association of epigenetic and metabolomic profiles with neurological and cognitive outcomes
Time frame: At baseline; additional biological samples may be collected during the study, if required for validation of epigenetic findings
Association between DNA methylation patterns, circulating metabolic markers, and neurological and cognitive outcomes in patients with congenital hypothyroidism (CH) and mild neonatal hyperthyrotropinemia (MNH), compared with control groups.
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 26 Oct 2026.
- 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.
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Hypothyroidism and Neurodevelopmental Disorders, run by Istituto Giannina Gaslini at 3 sites 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 2 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: looking for participants now, as of the sponsor's last update on 26 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites 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?
Contact Mohamad Maghnie, Professor (+39 01056362574, mohamadmaghnie@gaslini.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genetic mechanisms associated with neurological and cognitive outcomes in patients with congenital hypothyroidism (time frame: At baseline). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 26 Oct 2026.