Explaining the Down syndrome specific thyroid phenotype by epigenetics

Explaining the Down syndrome specific thyroid phenotype by epigenetics - The Down syndrome thyroid phenotype and epigenetics

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON46203

Enrollment

Registered

2016-01-08

Start date

2016-04-05

Completion date

Unknown

Last updated

2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Thyroid disorders in Down syndrome

Interventions

None listed

Eligibility

Age

12 Years to 17 Years

Inclusion criteria

Inclusion criteria: Between 1999 and 2001, a randomized clinical trial (RCT) was conducted at our centre in a cohort of Down syndrome infants to study the effects of thyroxin treatment versus placebo on psychomotor development. A follow-up study was performed in 2012 (at age 10.7 years). Since this is a cohort of children with Down syndrome that has been extensively phenotypically characterised including data on thyroid function, they provide an excellent opportunity to compare long-term effects. For the purpose of this study only children from the placebo group will be included, and only in the group not on thyroid hormone treatment and without evidence of thyroid autoimmunity, to avoid influences of treatment and additional morbidity on the methylation pattern. Permission for re-contacting has been obtained in the past.

Exclusion criteria

Exclusion criteria: Children from the treatment group in the original trial. Children currently on thyroid hormone treatment. Children with signs of thyroid autoimmunity.

Design outcomes

Primary

Measure	Time frame
DNA methylation differences of HPT-axis associated genes in DS children with the most severe thyroid phenotype compared to those with the mildest thyroid phenotype.	—

Secondary

Measure	Time frame
Thyroid function tests (TSH, free T4, anti-TPO): Data on thyroid function are available from the neonatal age up to 10 years. Although we do not expect the severity of the initial thyroid phenotype to have changed it is important to verify the initial thyroid phenotype with a recent measurement of thyroid function. It is also important to identify patients who may have developed autoimmune thyroiditis (anti-TPO positivity) since the age of 10 years because these patients would have to be excluded.	—

Measure

Time frame

Thyroid function tests (TSH, free T4, anti-TPO): Data on thyroid function are available from the neonatal age up to 10 years. Although we do not expect the severity of the initial thyroid phenotype to have changed it is important to verify the initial thyroid phenotype with a recent measurement of thyroid function. It is also important to identify patients who may have developed autoimmune thyroiditis (anti-TPO positivity) since the age of 10 years because these patients would have to be excluded.

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Countries

Netherlands

Outcome results