registro de pacientes
Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide
Preprint of our paper: "Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide" is available! Please find it at:
https://www.researchsquare.com/article/rs-2280399/v1
Please note that peer reviewed version is not available yet, this is a preprint.
Building a Worldwide Community - Leigh Syndrome Global Patient Registry
Presented at NORD Rare Diseases and Orphan Products Breakthrough Summit on October 17-18, 2022.
Presented at Mitochondrial Medicine - Therapeutic Development conference in November 2022.
Click HERE to view short overview on YouTube.
To download PDF of the poster in full size please click here.
For a 2 minute video presentation please click here.
Alignment and Interoperability of Leigh Syndrome Registry Data with Regulatory Submission Standards
Presented at PHUSE/FDA Computational Science Symposium, September 2022.
Presented at Mitochondrial Medicine - Therapeutic Development conference in November 2022.
Click HERE to view short overview on YouTube.
Authors: Sophia Zilber, Pallavi Bakare, Kasey Woleben, Saima Kayani, Parag Shiralkar, and Japhanya Bhupathi
Abstract:
The patient data is collected at registries for getting a real-world view of patient reported outcomes, to better understand the disease, and facilitate clinical trials recruitment. Establishment of interoperability of registry data with acceptable submission standards like CDISC is essential in order to accelerate the development of therapies and is a critical milestone in case of rare diseases.
Cure Mito Foundation and Sumptuous Data Sciences, LLC conducted a pilot project for establishment of such interoperability of Leigh Syndrome patient-populated registry data with CDISC standards. This poster presentation provides an overview of the outcome of this pilot project. The poster provides overview of the current data collection practices of patient registry data used by Cure Mito Foundation, provides methodical steps executed to convert such data into CDISC requirements, and provides further assessments regarding conversion of patient-populated data to CDISC and its applicability to other rare disease patient registries.
To download PDF of the poster in full size please click here.
For a 2 minute video presentation please click here.
Registro mundial de pacientes con síndrome de Leigh
Ayúdenos a reunir a pacientes, familias e investigadores para comprender mejor el síndrome de Leigh. Si usted o un miembro de su familia ha sido diagnosticado con el Síndrome de Leigh en cualquier parte del mundo, inscríbase en el registro de pacientes para hacer una contribución importante a la investigación del Síndrome de Leigh.
La Fundación Cure Mito se está asociando con Sanford CoRDS para crear el registro. Sanford CoRDS apoya y permite a las comunidades de enfermedades raras crear registros sólidos, brindando a los investigadores la información que necesitan para impulsar la investigación.
Para obtener más información sobre el registro, lea Aprobado por el IRB Preguntas frecuentes .
To hear an audio recording please click below:
%20(60%20%C3%97%2045_205%20in).png)