Clinical Research Directory

Comparison of Levothyroxine Formulations in the Treatment of Congenital Hypothyroidism

Observational, retrospective, prospective, pharmacological, single-centre, non-profit study. The aim is to evaluate, in newborns diagnosed with Congenital Hypothyroidism, the medium- and long-term efficacy and safety of the new formulation of levothyroxine in oral solution, compared to the liquid drop formulation and the tablet formulation. The study will involve male and female patients referred to the Neonatal Screening Centre at the Centre for Endocrine-Metabolic Diseases of the Paediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico di S. Orsola, Italy, who tested positive for Congenital Hypothyroidism.

Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid

Retro-prospective, exploratory, single-centre observational study conducted at the Endrocrine-Metabolic Diseases Centre of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy. The primary aim is to assess, by NGS sequencing of a panel of target genes, the frequency and type of variants with potential pathogenic significance in a patient population with congenital hypothyroidism and in situ thyroid, born between January 2003 and December 2023 identified through Neontal Screening at the Regional Centre for Neonatal Screening for Endrocrine-Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.

Evaluation of an Intensified Systematic Screening for Congenital Hypothyroidism in Premature Newborns

Currently in France, screening for congenital hypothyroidism (CH) in premature infants is done by a single TSH assay on filter paper. However, European recommendations advise repeating the assay within the first month of life. Our primary objective is to estimate the incidence of CH in preterm infants under 32 weeks of gestational age by applying the European recommendations.

Infants With Primary Congenital Hypothyroidism and Development

A review of the literature has focused primarily on the cognitive and motor development of children with congenital hypothyroidism, but no studies on sensory processing skills have been found. Considering the age range of the groups studied, studies conducted in the early stages of life are rare. This planned study aims to examine the neurological status, motor development, and sensory processing skills of infants aged 6-18 months, considering early synaptogenesis.

Prospective Evaluation of OptiThyDose

The aim of this multicentric, randomised, two-arms and single-blinded clinical trial is to prospectively evaluate OptiThyDose for Congenital hypothyroidism (CH) and Graves' disease (GD).

Metabolic Risk Assessment in Prepubertal Children With Congenital Hypothyroidism

We propose a multicenter prospective study to define the prevalence and severity score of metabolic syndrome in a prepubertal pediatric cohort with congenital hypothyroidism, compared to a healthy and normal-weight pediatric population. These data will help to define whether hypothyroidism can be considered a risk factor for the metabolic health of the pediatric population. The possible identification of an at-risk metabolic profile will provide useful information to optimize the diagnostic and monitoring pathway for affected children.

Early Check: Expanded Screening in Newborns

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.

Quality of Life and Long-term Outcome of Adequately Treated Congenital Hypothyroidism

The primary objective of this observational study is the evaluation of the quality of life and long-term outccome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening receiving replacement treatment with levothyroxine. The secondary objective is to relate the results to the form of hypothyroidism, the initial dose of L-T4, treatment adherence and genetics