Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. (NCT01916018) | Clinical Trial Compass
CompletedNot Applicable
Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.
France558 participantsStarted 2013-09-17
Plain-language summary
Congenital hypothyroidism (CH) is a rare disease that affects 1 in 3500 newborn. This condition is detected consistently since the late 1970s in France, which has led to early care and a significant improvement in prognosis and intellectual stature of these children. However neurodevelopmental disorders persist in 10-15% of cases. More associated diseases have been reported in approximately 10% of cases. These observations are in most cases poorly understood. The family nature of the CH is now well recognized and a dozen genes involved up to now. However, in the majority of cases (HC not due to a disorder of the organification of iodine), few mutations have been found in the reported number of patients (5-10%), suggesting the involvement of other genes. Some of the genes have been implicated in particular specific syndromic forms but many pathological associations remain unexplained. Also, a more complete genetic elucidation of CH would enable a better understanding of its etiology and thus its risk of familial recurrence (frequently asked questions by parents of children with CH) and secondly the presence of associated pathologies.
Main goal: to describe the population with CH (not due to a disorder of the organification of iodine) not only on clinical, biological and radiological (phenotypic analysis) but also on the genetic level to establish a genotype / phenotype correlation.
Who can participate
Sex
ALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
\- Patient: newborn (0-27 days) or infant (28 days 23 months), or child or adult with congenital hypothyroidism (that is to say with a TSH \> 15 mU / ml at screening on filter paper and / or plasma TSH\> 10 mU / ml) diagnosed in the first months of life, whatever their age, sex, weight and size.
Subjects with blood levels of free thyroid hormones (FT3 and FT4) in the standards will be described as having subclinical hypothyroidism.
If treatment with L-thyroxine could be stopped without relapse (that is to say, always with a TSH \<5 mU / ml with different controls), hypothyroidism is said to be transient, whatever the age of discontinuation of treatment.
* No pre or neonatal goitre by palpation or ultrasound thyroid
* negative perchlorate test (ie decreased rate of iodine captation \<10% at 2h injection of perchlorate) when the thyroid gland in place
* No self-immunity known to thyroid in children with and / or his mother (defined by a antithyroperoxidase antibodies and / or antithyroglobulin)
* Signature of free and informed consent by the patient or his legal representative
* Affiliation or enjoying a social security system
Exclusion Criteria:
* Presence of markers antithyroid autoimmunity in children and / or mother (antithyroperoxidase antibodies and / or antithyroglobulin)
* Pre or neonatal goiter on palpation or ultrasound thyroid
* Test positive perchlorate (ie salting rate of iodine\> 10% at 2 injection perchlorate)
* Patients of foreign origi…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
etiological type of the congenital hypothyroidism
Timeframe: 2 years
2
Presence and type of cytogenetic and / or genetic abnormality associated with HC
Timeframe: 2 years
3
Presence and type of pathology associated with HC
Timeframe: 2 years
4
Presence of abnormal neuropsychological (including delayed psychomotor development)