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реестр пациентов

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:

Please note that peer reviewed version is not available yet, this is a preprint.

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.

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

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.

For a 2 minute video presentation please click here.


Глобальный реестр пациентов с синдромом Ли

Помогите нам объединить пациентов, семьи и исследователей, чтобы лучше понять синдром Ли. Если у вас или члена вашей семьи был диагностирован синдром Ли где-либо в мире, пожалуйста, зарегистрируйтесь в реестре пациентов, чтобы внести важный вклад в исследование синдрома Ли.  


Фонд Cure Mito Foundation сотрудничает с Sanford CoRDS для создания реестра. Sanford CoRDS поддерживает и позволяет сообществам людей, страдающих редкими заболеваниями, создавать надежные реестры, предоставляя исследователям информацию, необходимую им для продвижения исследований.  

Дополнительные сведения о реестре см. в документе, одобренном IRB.  Часто задаваемые вопросы .  

To hear an audio recording please click below:

Cure Mito LS registry recording 02162022
00:00 / 04:59
Cure Mito LS registry poster (72 × 37.671 in) (60 × 45.205 in).png
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