Editorial: Mitochondrial medicine special issue

Chinnery, Patrick F.; Falk, Marni J.; Mootha, Vamsi K.; Rahman, Shamima

doi:10.1002/jimd.12374

“…To combat this, innovative partnership across the bioscience ecosystem centered on patients is required. [5] Patient registries are important to understand the natural history of the disease, measure and improve quality of care, and understand the healthcare burden. [4] More importantly in rare diseases, patient registries have become e cient tools in providing valuable patient data, considering the heterogeneous disease pro le, small patient population, and limited funding.…”

Section: Introductionmentioning

confidence: 99%

Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide

Zilber¹,

Woleben²,

Johnson

³

et al. 2023

Preprint

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Background Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA. Patient registries are important for many reasons, such as studying the natural history of the disease, improving the quality of care, and understanding the healthcare burden. For rare diseases, patient registries are significantly important as patient numbers are small, and funding is limited. Cure Mito Foundation started a global patient registry for LS in September 2021 to identify and learn about the LS patient population, facilitate clinical trial recruitment, and unite international patients and researchers. Priorities were to allow researchers and industry partners to access data at no cost through a clear and transparent process, active patient engagement, and sharing of results back to the community. Results Patient registry platform, survey design, data analysis process, and patient recruitment strategies are described. Reported results include demographics, diagnostic information, symptom history, loss of milestones, disease management, healthcare utilization, quality of life, and caregiver burden for 116 participants. Results show a high disease burden, but a relatively short time to diagnosis. Despite the challenges faced by families impacted by Leigh syndrome, participants, in general, are described as having a good quality of life and caregivers are overall resilient, while also reporting a significant amount of stress. Conclusion This registry provides a straightforward, no-cost mechanism for data sharing and contacting patients for clinical trials or research participation, which is important given the recruitment challenges for clinical trials for rare diseases. This is the first publication to present results from a global patient registry for Leigh Syndrome, with details on a variety of patient-specific and caregiver outcomes reported for the first time. Additionally, this registry is the first for any mitochondrial disease with nearly 70% of participants residing outside of the United States. Future efforts include continued publication of results and further collaboration with patients, industry partners, and researchers.

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“…For mitochondrial diseases, it is widely acknowledged that the rarity and heterogeneity of individual genetic diseases combined with the lack of patient registries to understand the natural history of each unique disease and enable designing rigorous clinical trials, contribute to the challenges researchers face in developing targeted therapies. To combat this, innovative partnership across the bioscience ecosystem centered on patients is required [ 5 ]. Patient registries are important to understand the natural history of the disease, measure and improve quality of care, and understand the healthcare burden [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Leigh syndrome global patient registry: uniting patients and researchers worldwide

Zilber,

Woleben,

Johnson

et al. 2023

Orphanet J Rare Dis

4

0

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Background Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA. Patient registries are important for many reasons, such as studying the natural history of the disease, improving the quality of care, and understanding the healthcare burden. For rare diseases, patient registries are significantly important as patient numbers are small, and funding is limited. Cure Mito Foundation started a global patient registry for LS in September 2021 to identify and learn about the LS patient population, facilitate clinical trial recruitment, and unite international patients and researchers. Priorities were to allow researchers and industry partners to access data at no cost through a clear and transparent process, active patient engagement, and sharing of results back to the community. Results Patient registry platform, survey design, data analysis process, and patient recruitment strategies are described. Reported results include demographics, diagnostic information, symptom history, loss of milestones, disease management, healthcare utilization, quality of life, and caregiver burden for 116 participants. Results show a high disease burden, but a relatively short time to diagnosis. Despite the challenges faced by families impacted by Leigh syndrome, participants, in general, are described as having a good quality of life and caregivers are overall resilient, while also reporting a significant amount of stress. Conclusion This registry provides a straightforward, no-cost mechanism for data sharing and contacting patients for clinical trials or research participation, which is important given the recruitment challenges for clinical trials for rare diseases. This is the first publication to present results from a global patient registry for Leigh Syndrome, with details on a variety of patient-specific and caregiver outcomes reported for the first time. Additionally, this registry is the first for any mitochondrial disease with nearly 70% of participants residing outside of the United States. Future efforts include continued publication of results and further collaboration with patients, industry partners, and researchers.

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Interoperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards

Shiralkar,

Bakare,

Woleben

et al. 2024

Journal of the Society for Clinical Data Management

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Introduction: Leigh syndrome (LS) is a rare, severe neurometabolic disorder and a type of primary mitochondrial disease. The Cure Mito Foundation is a nonprofit foundation founded in 2018 by parents of affected children. The organization's mission is to unite the global LS community to accelerate patient-centered research, treatments, and cures. Cure Mito has launched a global patient registry for Leigh syndrome in September 2021 to better understand the disease, facilitate clinical trials recruitment, and build a strong global community. Objectives: Patient data is collected in registries for getting a real-world view of patient reported outcomes, and to improve the understanding of the disease. Establishment of interoperability of therapies. The project described here has been undertaken to establish such interoperability for Leigh syndrome patient registry data.Methods: Establishing interoperability consisted of assessment of all data elements and collected data, alignment of data elements and variables with CDASH domains and variables, terminology alignment, data transformation, and compliance assessment. Results: Data assessment has been done, domain map has been developed, and data has been converted to CDASH standard.Conclusion: Cure Mito Foundation and Sumptuous Data Sciences, LLC completed a project focused on interoperability of Leigh syndrome patient registry data with CDISC standards, converting the data to CDASH standards, with SDTM conversion in progress. This project is a key milestone for all stakeholders who collect real world data in rare diseases.

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Editorial: Mitochondrial medicine special issue

Cited by 3 publications

References 14 publications

Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide

Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide

Leigh syndrome global patient registry: uniting patients and researchers worldwide

Interoperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards

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