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Congenital Hypothyroidism clinical trials

View clinical trials related to Congenital Hypothyroidism.

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NCT ID: NCT06051279 Not yet recruiting - Pattern of CH Clinical Trials

Pattern of Congenital Hypothyroidism in Newborns.

Start date: June 2024
Phase:
Study type: Observational

1. Study the pattern of congenital hypothyroidism in newborns after positive newborn screening results. 2. Assess the characteristics of the cases (permanent congenital hypothyroidism and transient neonatal hyperthyrotopinemia).

NCT ID: NCT05687474 Recruiting - Cystic Fibrosis Clinical Trials

Baby Detect : Genomic Newborn Screening

Start date: September 1, 2022
Phase:
Study type: Observational

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

NCT ID: NCT05371262 Completed - Clinical trials for Congenital Hypothyroidism

Influence of Initial Levothyroxine Dose on Neurodevelopmental and Growth Outcomes in Congenital Hypothyroidism

Start date: May 2011
Phase: Phase 4
Study type: Interventional

The primary objective of this study is to evaluate the risk-benefit profile of long-term treatment of two different initials treatment schemes with L-T4 on the neurodevelopmental and auxological outcomes in children with congenital hypothyroidism, diagnosed by neonatal screening in order to find the best dose of initial thyroid hormone replacement to assure the best long-term developmental outcome without any adverse effects on auxological, cardiovascular and skeletal outcomes. The secondary objective of the study is to evaluate the role of other factors that, in addition to the initial L-T4 therapy,can influence long-term neurodevelopmental and auxological outcomes as well as the cardiovascular system and bone metabolism outcomes.

NCT ID: NCT05228184 Active, not recruiting - Clinical trials for Congenital Hypothyroidism

Use of Tirosint®-SOL or Tablet Formulations of Levothyroxine in Pediatric Patients With Congenital Hypothyroidism (CH)

Start date: January 21, 2022
Phase: Phase 4
Study type: Interventional

This is a multi-center, prospective, parallel-group, open-label, randomized clinical study in one hundred and twenty-six (126) neonates and infants diagnosed with CH. Subjects will be randomized in a 2:1 ratio to Treatment (Tirosint®-SOL) or Control (conventional therapy with levothyroxine sodium crushed tablets).

NCT ID: NCT04734457 Not yet recruiting - Clinical trials for Congenital Hypothyroidism

Final Height in Patients With CH Diagnosed by the Screening

Start date: November 2, 2021
Phase:
Study type: Observational

The aim of this study is to evaluate longitudinal growth and final height in patients with Congenital Hypothyroidism detected by neonatal screening and factors affecting it.

NCT ID: NCT04712760 Recruiting - Clinical trials for Congenital Hypothyroidism

Congenital Hypothyroidism in Children With Eutopic Gland or Thyroid Hemiagenesis: Predictive Factors for Transient vs Permanent Hypothyroidism.

Start date: February 22, 2021
Phase:
Study type: Observational

In France, the incidence of congenital hypothyroidism has increased significantly since the newborn screening program was introduced in 1978. The largest increase is seen in children with eutopic thyroid gland. More than one-third of children with eutopic gland have transient hypothyroidism. Clinical practice guidelines recommend to re-evaluate thyroid function in children with eutopic gland around the age of 3 years to determine whether hypothyroidism is transient or permanent. Up until today it is still difficult to determine early on whether hypothyroidism is transient or permanent in children with eutopic gland. Our aim is to identify one or more predictive factors for transient congenital hypothyroidism in children with eutopic gland or thyroid hemiagenesis.

NCT ID: NCT03655223 Enrolling by invitation - Diabetes Mellitus Clinical Trials

Early Check: Expanded Screening in Newborns

Start date: October 15, 2018
Phase:
Study type: Observational

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.

NCT ID: NCT02374593 Completed - Clinical trials for Congenital Hypothyroidism

Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism

Start date: March 2014
Phase: N/A
Study type: Interventional

This is a clinical study comparing targeted levothyroxine dosing based on thyroid anatomy as visualized on ultrasound (normal vs. ectopic/sublingual vs. athyreosis) to empiric levothyroxine dosing in infants with congenital hypothyroidism. Patients enrolled in the study for targeted dosing will be compared to controls obtained by retrospective chart review. The main outcome is to determine if there is a difference in the frequency of over-treatment and under-treatment during the first 6 months of therapy.

NCT ID: NCT02307175 Completed - Clinical trials for Congenital Hypothyroidism

A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication

Start date: September 1, 2014
Phase: N/A
Study type: Observational

Prospective, open label single site study to demonstrate the safety and efficacy of Tc-99m pertechnetate produced by high energy cyclotron at CHUS.

NCT ID: NCT01916018 Completed - Clinical trials for Congenital Hypothyroidism

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

HYPOTYGEN
Start date: September 17, 2013
Phase: N/A
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.