NCT01916018: HYPOTYGEN

Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.

Completed NA Last updated 8 September 2025

What this trial tests

NA trial testing Clinical and radiologic exams and blood samples in Congenital Hypothyroidism in 558 participants. Completed in 17 March 2017.

Timeline

17 September 2013

Primary endpoint
17 March 2017

17 March 2017

Quick facts

Lead sponsor	Assistance Publique - Hôpitaux de Paris
Phase	NA
Status	Completed
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	diagnostic
Enrollment	558
Start date	17 September 2013
Primary completion	17 March 2017
Estimated completion	17 March 2017
Sites	1 location across France

Drugs / interventions tested

• Clinical and radiologic exams and blood samples

Conditions studied

• Congenital Hypothyroidism — all drugs for Congenital Hypothyroidism →

Sponsor

Assistance Publique - Hôpitaux de Paris — full company profile →

Who can join

Eligibility, any sex, with Congenital Hypothyroidism. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

1. Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
   van Trotsenburg P, Stoupa A, Léger J, Rohrer T, et al · · 2021 · cited 299× · PMID 33272083 · DOI 10.1089/thy.2020.0333
2. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
   Stoupa A, Adam F, Kariyawasam D, Strassel C, et al · · 2018 · cited 45× · PMID 30446499 · DOI 10.15252/emmm.201809569
3. Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.
   Stoupa A, Kariyawasam D, Jabot-Hanin F, Nguyen-Quoc A, et al · · 2025 · cited 3× · PMID 39787321 · DOI 10.1210/clinem/dgaf004