Ensayos clínicos

Overview

Información sobre este estudio

The objectives of this study are to perform genomic testing and trio analysis on specimens from three deceased patients with partial OTC deficiency who died unexpectedly while receiving treatment, along with testing on blood from their 5 parents, to determine whether there were any other genetic factors that may have contributed to sudden, unexpected death of the patient. In addition, medical records analysis and case summary would be carried out for all deceased patients with known partial OTC deficiency.

To consider whether further investigation into the pathogenesis of OTC deficiency is warranted to find previously unidentified risk factors for sudden death in patients with partial OTC deficiency

Elegibilidad para la participación

Los requisitos de elegibilidad de los participantes incluyen la edad, el sexo, el tipo y el estadio de la enfermedad, y los problemas de salud o tratamientos previos. Las pautas difieren de un estudio a otro e identifican quiénes pueden o no pueden participar. No hay garantía de que cada persona elegible que desee participar en un ensayo se inscribirá. Comunícate con el equipo del estudio para analizar la elegibilidad del estudio y la posible participación.

Sedes participantes de Mayo Clinic

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