MST01 Mitochondrial Myopathy Patient Registry

A patient registry is a program for the collection, storage, retrieval, and dissemination of clearly defined information for a specific purpose. Data collected in this registry includes genetic diagnosis, symptoms, medical history, treatments, management of care, quality of life, and longitudinal information about individuals with mitochondrial myopathy caused by MSTO1 mutations.

As researchers and patients with MSTO1-related disease are located all around the world, having a centralized database makes it easier for clinical information to be shared. The registry provides an excellent opportunity for families to be involved in research studies and clinical trials. Once questionnaires are completed, researchers can compare specific symptoms, identify how the syndrome progresses, as well as gain valuable insights into which treatments were most successful.

The MSTO1 Patient Registry is intended for individuals with a confirmed MSTO1 mutation causing mitochondrial myopathy. If you have questions about whether you or a family member are eligible to participate, please contact us.

Every person enrolled in the MSTO1 Patient Registry makes a valuable contribution. Your participation helps researchers better understand this ultra-rare condition, improve clinical care, and support the development of future treatments.

Patients or caregivers of patients will be asked to complete two surveys—a general survey and an MSTO1-specific survey. Patients will also be asked to upload their genetic report. Having a genetic report is helpful because it allows us to verify the MSTO1 mutation, which is critical for understanding the condition and may help connect participants with appropriate research studies or future clinical trial opportunities.

The general survey was provided by the CoRDS Registry and is based on a survey developed by the National Institutes of Health (NIH). The disease-specific survey was developed by MSTO1 parent advocates in collaboration with Cure Mito Foundation and expert clinicians to ensure it captures the information most important to the MSTO1 community.

You can skip questions, however, the more complete data there is, the more useful it will be for researchers. Therefore, we encourage everyone to respond to all questions. You can stop and come back at a later time.

If you choose to share your data with Cure Mito Foundation, we will work together with the MSTO1 community to review and analyze the data. We may contact you if any responses are missing or require clarification to help ensure the data is as complete and accurate as possible, which is essential for meaningful research. We will summarize and share findings with the MSTO1 community, researchers, and clinicians. Qualified researchers may also request access to de-identified registry data to support studies aimed at improving our understanding of MSTO1 and advancing the development of future treatments. From time to time, we may also contact you about research opportunities or additional surveys that you may choose to participate in. If you have any questions or concerns about sharing your data, please contact us at info@curemito.org.

The de-identified data will be shared only with researchers approved by Sanford’s Scientific Advisory Board (SAB) together with representatives from Cure Mito. No personal identifying information (such as patient’s or caregiver’s name, emails, addresses) will be shared.

Yes! Because CoRDS uses exactly the same general survey for all rare diseases, data can be easily harmonized and collated based on a disease characteristic or symptom. These capabilities help researchers understand what causes rare diseases and develop treatments.

Internet polls, questionnaires, and surveys are often used to collect information quickly and easily from respondents. However, to publish their results, researchers must only use information obtained in a specific way. The patient data they use must have written approval from patients to use their data this way and must adhere to strict privacy regulations. The Leigh Syndrome registry is protected by the Health Insurance Portability and Accountability Act (HIPAA) and compliant with the European Union General Data Protection Regulation (GDPR). CoRDS has worked hard to ensure that researchers can use the information you provide.

CoRDS submits every questionnaire to their Institutional Review Board for approval. The IRB is a group that reviews the ethics of medical research studies.

Informed consent also safeguards participant data. When registering to participate in CoRDS, participants (or their representatives) are given a chance to read the consent documentation before filling out the questionnaire. For any questions, participants can call CoRDS at + 1-877-658-9192 or send an email to cords@sanfordhealth.org.

If researchers receive approval to look at the registry or questionnaire responses, they will be given only the anonymous data without the identifiable information.

Your privacy is also protected even if you indicate that you are willing to be contacted for additional research. For example, a researcher might contact CoRDS to ask for additional information from all participants who have a specific symptom, such as loss of hearing. CoRDs would then contact every participant in the registry who said that they had loss of hearing and that they would like to participate in additional studies. CoRDS would then provide the participants with the researcher’s contact information, and it would be up to the individual participants to contact the researcher to participate in additional research. CoRDS will never provide your contact information to anyone.

Updates can be done any time and should only take 10-15 minutes. But updates should be done at least every year, after any significant change in the participant’s health, and immediately after their 18th birthday. If the participant was enrolled in the registry as a minor, their data becomes inaccessible 30 days after their 18th birthday unless and until they are reenrolled and sign a consent form themselves.

Yes, the registry can be accessed all over the world with the link provided on our website. International participation is highly encouraged.

The information you provide will be provided to researchers studying Leigh Syndrome. CoRDS has put many safeguards into place to ensure that this information will be kept safe and confidential. The registry is protected by the Health Insurance Portability and Accountability Act (HIPAA) and compliant with the European Union General Data Protection Regulation (GDPR).