Congenital Hypothyroidism Clinical Trial
— HYPOTYGENOfficial title:
Phenotype and Genotype Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. The Use of Genetic Analysis in the Early Care of Children With Thyroid Dysgenesis
Verified date | December 2017 |
Source | Assistance Publique - Hôpitaux de Paris |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Interventional |
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.
Status | Completed |
Enrollment | 558 |
Est. completion date | March 17, 2017 |
Est. primary completion date | March 17, 2017 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility |
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 origin returned to their country will be excluded from the study. |
Country | Name | City | State |
---|---|---|---|
France | Pediatric endocrinology gynecology and diabetology, Hôpital Necker Enfants Malades, Assistance Publique - Hôpitaux de Paris , Université Paris Descartes, INSERM unit U 845 | Paris |
Lead Sponsor | Collaborator |
---|---|
Assistance Publique - Hôpitaux de Paris |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | etiological type of the congenital hypothyroidism | Etiological Type of the congenital hypothyroidism: athyreosis, ectopia, hémiagenesis, hypoplastic gland in place of normal shape and size | 2 years | |
Primary | Presence and type of cytogenetic and / or genetic abnormality associated with HC | 2 years | ||
Primary | Presence and type of pathology associated with HC | 2 years | ||
Primary | Presence of abnormal neuropsychological (including delayed psychomotor development) | 2 years | ||
Secondary | time to treatment of hypothyroidism | Optimization of the treatment of hypothyroidism: normalization period of TSH and T4, TSH number of> 15 mU / ml during follow-up, adherence | 2 years | |
Secondary | Presence of a prenatal and / or neonatal complication | 2 years |
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