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registro de pacientes

Interoperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards

Our paper: "Interoperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards" is published in the Journal of the Society for Clinical Data Management: https://www.jscdm.org/article/id/244

Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide 

Our paper: "Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide" is published in the Orphanet Journal of Rare Diseases!

To our knowledge this is the first paper about a global patient registry for Leigh syndrome, with many of the reported outcomes reported for the first time. It may also be a first truly international registry in mitochondrial disease with 70% of participants residing outside the United States. 

Please read the full paper HERE

Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide 

Our paper: "Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide" is published in the Orphanet Journal of Rare Diseases!

To our knowledge this is the first paper about a global patient registry for Leigh syndrome, with many of the reported outcomes reported for the first time. It may also be a first truly international registry in mitochondrial disease with 70% of participants residing outside the United States. 

Please read the full paper HERE

Leigh Syndrome Global Patient Registry 

Presented at Euromit, June 2023

To download PDF of the poster in full size please click here.

Download poster in French

Leigh Syndrome Global Patient Registry - Euromit poster

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.

Leigh Syndrome Global Patient Registry - NORD poster

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.

Leigh syndrome global patient registry - CDISC project poster

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:

Cure Mito LS registry recording 02162022
00:00 / 04:59
Leigh syndrome global patient registry - first results poster
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