Patientenregister
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.
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.
Globales Patientenregister für das Leigh-Syndrom
Helfen Sie uns, Patienten, Familien und Forscher zusammenzubringen, um das Leigh-Syndrom besser zu verstehen. Wenn bei Ihnen oder einem Familienmitglied irgendwo auf der Welt das Leigh-Syndrom diagnostiziert wurde, tragen Sie sich bitte in das Patientenregister ein, um einen wichtigen Beitrag zur Leigh-Syndrom-Forschung zu leisten.
Die Cure Mito Foundation arbeitet mit Sanford CoRDS zusammen, um das Register zu erstellen. Sanford CoRDS unterstützt und ermöglicht es Gemeinschaften für seltene Krankheiten, robuste Register aufzubauen und Forschern die Informationen bereitzustellen, die sie benötigen, um die Forschung voranzutreiben.
Weitere Informationen zum Register finden Sie unter IRB-genehmigt Häufig gestellte Fragen .
To hear an audio recording please click below:
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