Safety and preliminary efficacy on cognitive performance and adaptive functionality of epigallocatechin gallate (EGCG) in children with Down syndrome. A randomized phase Ib clinical trial (PERSEUS study).

Purpose: Although some caregivers are using epigallocatechin gallate (EGCG) off label in hopes of improving cognition in young adults with Down syndrome (DS), nothing is known about its safety, tolerability, and efficacy in the DS pediatric population. We aimed to evaluate safety and tolerability of a dietary supplement containing EGCG and if EGCG improves cognitive and functional performance.

Methods: A total of 73 children with DS (aged 6-12 years) were randomized.

[The metabolic newborn screening as a healthcare model of the precision medicine. Perspective from the Spanish Association for the Study of Congenital Errors of Metabolism (AECOM).].

Newborn screening programs for congenital diseases aim to achieve a presymptomatic and early diagnosis of treatable disorders, in order to prevent or significantly reduce morbidity and/or mortality. Many of the conditions included in these programs are inborn errors of metabolism (IEM); however, the detection of endocrine, hematological, immunological, cardiovascular diseases, and congenital hearing loss are also included in many of them. Newborn screening tests are not diagnostic and therefore additional tests are needed to confirm or exclude the suspected diagnosis.