LEIGH SYNDROME GLOBAL patient registry

Leigh Syndrome global patient registry

Help us bring patients, families, and researchers together to gain a better understanding of Leigh Syndrome. If you or a family member has been diagnosed anywhere in the world with Leigh Syndrome, please enroll in the patient registry to make an important contribution to Leigh Syndrome research.

The Cure Mito Foundation is partnering with Sanford CoRDS to create the registry. Sanford CoRDS supports and enables rare disease communities to build robust registries, providing researchers with the information they need to drive research forward.

For more information about the registry please read IRB-approved Frequently Asked Questions.

To download IRB-approved flyer to share with patients and clinicians, please CLICK HERE.

our results

Enrollment Instructions

If you would like to enroll and complete the CoRDS Patient Registry Questionnaire online, you may do so by following the instructions below. The registry works best with updated versions of Google Chrome, Mozilla Firefox or Microsoft Edge and may not work as well with a phone or tablet. You may also complete registration on paper by calling CoRDS at

+ 1 877 658 9192 or sending an email to cords@sanfordhealth.org and requesting a paper version of the CoRDS Patient Registry Questionnaire.

Step 1

Set Up A CoRDS Profile by clicking HERE.

Complete the CoRDS activation form. Under disease name please select "Leigh Syndrome". Please use a desktop/laptop computer or tablet.

The system will generate a username for you based on your name. You will need to create a password and setup a security question. Once completed, click the LOGIN button to login to your CoRDS Patient Registry Profile.

Step 2

Complete CoRDS Standard and Disease-specific Questionnaire

In the Patient Registry Profile, click the CONTINUE ENROLLMENT button near the top of the screen. Click on the SAVE & NEXT button in the upper right-hand corner of the screen to proceed.

Step 3

Once you have answered all the questions, click SUBMIT! Remember, you can always login to update your answers at any time. You should plan to update your questionnaire at least every year and after any significant changes to health.

Important registry reminders and information

After completing or updating a survey, it is important to hit "Submit". Otherwise your data will not be available for analysis.

Registry has a general survey and a Leigh syndrome survey. Both should be completed for data to be included in the analysis.

If diagnosis has been confirmed by genetic testing, please enter genetic mutation in question 4 in the Leigh syndrome survey. If you need help interpreting your genetic report please contact us at info@curemito.org.

If your loved one turns 18, you will be sent an email from CoRDS asking you to re-consent. 3 reminders will be sent. If you don't re-consent, your data will no longer be available.

If you are enrolling a participant who has both Leigh syndrome and PDCD, during account creation it is important to select "Leigh Syndrome" and "Pyruvate Dehydrogenase Complex Deficiency (PDCD)" under "Rare disease diagnosis".

If you have more than one family member with Leigh Syndrome - please enroll each participant separately. Your family's participant accounts can later be linked by clicking "Family Branching" in the participant portal.

Surveys are available in Spanish, Portuguese, French, Turkish, Polish, Chinese. All translations are certified and IRB-approved. Please reach out to us at info@curemito.org if you need translated surveys. If you're interested in other languages please reach out to us as well.

Registry MILESTONES

Registry flyerS - please click ON EACH TO DOWNLOAD

September 2021 - Registry launched in collaboration with Sanford CoRDS

November 2021 - Cure Mito collaborates with C-Path on data sharing into C-Path’s RDCA-DAP® platform

May 2022 - Cure Mito collaborates with Sumptuous Data Sciences on data interoperability to CDISC

June 20222 - Our registry has been listed on Orphanet, with other international registries and biobanks - June, 2022

February 2023 - FDA listening session about the registry

July 2023 - Leigh syndrome registry data is shared with C-Path

September 2023 - Our paper: "Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide" is published in the Orphanet Journal of Rare Diseases: https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02886-0

January 2024 - Cure Mito launches Mitochondrial and Metabolic disease taskforce with C-Path and seven other stakeholders

January 2024 - 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/

Feburary 2024 - Cure Mito collaborates with Hope for PDCD foundation to launch PDCD registry on the same platform in alignment with Leigh syndrome registry

2021-2024 - 4 posters presented at multiple conferences, including: Mitochondria-Related Drug Development Summit 2022 and 2023, Mitochondrial Medicine Symposium 2022, mitoNice conference 2022, annual conference of National Organization of Rare Diseases (NORD) Breakthrough Summit 2022, Pharmaceutical User Exchange Computational Sciences Symposium (PHUSE -CSS) 2022, Mitochondrial Medicine – Therapeutic Development conference 2022, and Euromit 2023.