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Leigh Syndrome global patient registry

First results have been presented at Mitochondria-Targeted Drug Development Summit, February 22-24, 2022

Authors: Sophia Zilber, MA, Kasey Woleben, Danielle Boyce, DPA, MPH, Kevin Freiert, MBA, Joana Matos, PhD, Courtney Boggs, RN, Saima Kayani, MD, Souad Messahel, PhD

Abstract: Cure Mito Foundation started Leigh Syndrome (LS) Global Patient Registry in September, 2021 to meet the following goals: internationally available, identify and learn about LS patient population, consistently share results, enable clinical trial recruitment. Data collected during the first three months since starting the registry is high quality and describes LS population well in terms of demographic and disease related information. Participants represent 22 countries, over 70% international, achieving possibly the first global registry for LS. Future efforts include continued patient recruitment, publication of further results, collaboration with patients, industry, researchers.

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

Cure Mito LS registry poster (72 × 37.671 in) (60 × 45.205 in).png

To hear an audio recording please click below:

Cure Mito LS registry recording 02162022
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Alignment and Interoperability of Leigh Syndrome Registry Data with Regulatory Submission Standards

Presented at PHUSE/FDA Computational Science Symposium, September 2022

Authors: Sophia Zilber, Pallavi Bakare, Kasey Woleben, Saima Kayani, Parag Shiralkar, and Japhanya Bhupathi


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.


Building a Worldwide Community - Leigh Syndrome Global Patient Registry 

Presented 2022 NORD Rare Diseases and Orphan Products Breakthrough Summit on October 17-18, 2022.

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