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. Participants received 0.5% EGCG (10 mg/kg daily dose) or placebo for 6 months with 3 months follow up after treatment discontinuation. RESULTS: In total, 72 children were treated and 66 completed the study. A total of 38 participants were included in the EGCG group and 35 in the placebo group. Of 72 treated participants, 62 (86%) had 229 treatment-emergent adverse events (AEs). Of 37 participants in the EGCG group, 13 (35%) had 18 drug-related treatment-emergent AEs and 12 of 35 (34%) from the placebo group had 22 events. In the EGCG group, neither severe AEs nor increase in the incidence of AEs related to safety biomarkers were observed. Cognition and functionality were not improved compared with placebo. Secondary efficacy outcomes in girls point to a need for future work. CONCLUSION: The use of EGCG is safe and well-tolerated in children with DS, but efficacy results do not support its use in this population.

Cardiac arrest as a manifestation of unknown Type V glycogenosis: a case report.

Few cases have been reported to date, in which a massive rhabdomyolysis causes a cardiac arrest in a male adult suffering from undiagnosed McArdle disease. Veno-arterial extracorporeal membrane oxygenation and cytokine adsorption filter (CytoSorb®) were required to reach a complete and successful recovery.

[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).] / El cribado metabólico del recién nacido como modelo asistencial de la medicina de precisión. Perspectiva desde la Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (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. The social and professional demand of the hand of the technological advances and new therapeutic options, allow the continuous expansion of neonatal screening; This progress has a clear benefit for patients, since thanks to the early diagnosis and treatment of their disease they can have a better prognosis and a better quality of life. The inclusion criteria of the different diseases should not be evaluated exclusively in function of the moment in which the evaluation is carried out, it is necessary to apply a long-term vision of opportunity based on the strengths of the health system. Today, after 50 years of experience, we can assure that neonatal screening programs constitute one of the most significant advances that have occurred in public health, their widespread practice has been one of the great achievements in pediatric healthcare and are marking the healthcare organization of many adult units. Hand in hand with advances in genetics and genomics, newborn screening programs will continue to expand for those disorders in which early intervention can significantly modify the course of the disease.

Los programas de cribado de enfermedades congénitas en los recién nacidos tienen como objetivo lograr un diagnóstico presintomático y temprano de trastornos tratables, con el fin de prevenir o reducir significativamente la morbilidad y/o mortalidad. Muchas de las condiciones incluidas en es estos programas son errores innatos del metabolismo (EIM); sin embargo, la detección de enfermedades endocrinas, hematológicas, inmunológicas, cardiovasculares, y la hipoacusia congénita también se incluyen en muchos de ellos. Las pruebas de detección de recién nacidos no son diagnósticas y, por tanto, se necesitan pruebas complementarias para confirmar o excluir la sospecha diagnóstica. La demanda social y profesional de la mano de los avances tecnológicos y de nuevas opciones de tratamiento, permiten la expansión continua del cribado neonatal; este progreso conlleva un claro beneficio para los pacientes, pues gracias al diagnóstico y al tratamiento precoz de su enfermedad pueden tener un mejor pronóstico y una mejor calidad de vida. Los criterios de inclusión de las diferentes enfermedades no deben ser valorados exclusivamente con el prisma del momento en que se realiza la evaluación, es necesario aplicar una visión de oportunidad a largo plazo basada en las fortalezas del sistema sanitario. Hoy en día, tras 50 años de recorrido, podemos asegurar que los programas de cribado neonatal constituyen uno de los avances más significativos que se han producido en salud pública, su práctica generalizada ha significado uno de los grandes logros asistenciales en pediatría y están marcando la organización asistencial de muchas unidades de adultos. De la mano de los avances en genética y genómica, los programas de cribado del recién nacido continuarán expandiéndose para aquellos trastornos en los que una intervención temprana pueda modificar significativamente el curso de la enfermedad.