MNGIE Retrospective Natural History Study
Are you or someone in your family affected by MNGIE? The University of Cambridge and University of Bologna are running a natural history study to describe the clinical progression of MNGIE and identify parameters to help in early diagnosis and treatment development. If you would like your clinical data to be included in this study, UMDF encourages you to share this information with your treating clinician.
What: Researchers at the University of Cambridge and the University of Bologna are conducting a worldwide retrospective natural history study of MNGIE (Mitochondrial Neuro-Gastro-Intestinal Encephalomyopathy), an ultra-rare mitochondrial disease caused by mutations in the TYMP gene. The study is led by Dr. Jelle van den Ameele (University of Cambridge) and Prof. Caterina Garone (University of Bologna), and is funded by Pierrepont Therapeutics Inc. It has received ethical approval from the University of Cambridge Human Biology Research Ethics Committee.
Goal: The study aims to collect existing patient data from clinicians worldwide to understand how MNGIE affects individuals, how the disease progresses over time, and how current treatments impact outcomes. As innovative therapies – including gene therapies and other advanced medicinal treatments – move toward clinical trials, a comprehensive natural history study is essential to inform trial design and identify appropriate clinical and biochemical outcome measures. The study will focus on describing clinical progression and identifying biochemical, molecular, histological, and histochemical parameters that can aid in early diagnosis, improve prognosis, and better characterize therapeutic outcomes.
Who can participate: Clinicians who follow or have followed patients with MNGIE – in either a clinical or research setting – and who are willing to share anonymized clinical data via a secure online survey. The study seeks to include as many cases as possible, including both published and unpublished patients, patients enrolled in other disease registries, patients who have passed away, and those who have received treatments such as liver or bone marrow transplantation. Patients and families affected by MNGIE are encouraged to share study information with their treating clinician so that their data may be included.
How to participate: Clinicians can contact the study team directly to receive a link to the secure REDCap survey. The survey takes approximately 30 minutes to 1 hour to complete. All data will be stored securely at the University of Cambridge.
Contact: add-tr.mitoteam@nhs.net
MERLIN Clinical Research Study
Do you have a mitochondrial DNA mutation and experience fatigue and muscle weakness? If so, this study may be for you!
What: Virtual clinical research study that you can participate in from the comfort of your own home.
Goal: The MERLIN Study aims to collect and store medical and other clinically relevant information from individuals with mitochondrial disease. It will evaluate how symptoms of fatigue and muscle function change over time in mitochondrial diseases. The study will also assess the variability and progression of fatigue and myopathy (muscle symptoms) in patients with primary mitochondrial disease.
Who can participate: Patients who have been genetically diagnosed with a mitochondrial DNA mutation. You must also be currently experiencing fatigue and muscle issues.
How to participate: Joining the mitoSHARE Patient registry and participating in surveys every three months.
Contact: registry@umdf.org
POLG Prospective Natural History Study
Are you or someone in your family affected by a POLG disease spectrum? If you would like your clinical data to be included in this study, UMDF encourages you to share this information with your treating clinician.
What: This is a prospective, multicenter, observational natural history study (NHS) of individuals with genetically confirmed POLG-associated disorders. Unlike a purely remote registry study, this protocol explicitly includes regular, in-person evaluations conducted at participating clinical sites, integrated with routine clinical care whenever possible. Participants will be followed longitudinally and evaluated in person at participating mitochondrial disease clinical centers, with additional remote follow-up as specified. Data collected during in-person visits, including clinician-reported outcomes, functional assessments, and clinically obtained laboratory and imaging data, will be entered by site investigators or delegated study staff into the mitoSHARE research platform.
Goal: The purpose of this study is to better understand the natural history of the POLG disease spectrum. You or your family member may be able to join the study if you have a confirmed POLG related diagnosis caused by a known pathogenic gene mutation or deletion.
Who can participate: This study will be conducted in an outpatient clinic and/or through remote video or telephone visits in patients aged 0 to 75 years old with a genetically confirmed diagnosis of a POLG disease.
How to participate: Joining the mitoSHARE Patient registry and other criteria will include completing questionnaires every 3 to 6 months about daily functioning, symptoms, and quality of life, and complete assessments performed by a clinician during in-clinic or remote visits. There will be an option to participate in this study online through mitoSHARE or in person at 6 different hospitals across the country.
Contact: registry@umdf.org
University of Rochester – Center for Health + Technology – Mitochondrial Disease – Health Index
The purpose of this study is to develop and validate a disease-specific, patient-reported outcome measure for clinical trials of patients with mitochondrial disease.
What does this study include?
- Completing an online survey
- Participating in an audio only zoom interview
Who can participate?
- Be 18 years old or older
- Live in the United States
- Have a mitochondrial disease diagnosis (clinical or genetically confirmed)
- Have access to a phone or computer and the internet
- Have the capacity to provide informed consent
To learn more, or sign up for any of the studies, please email registry@umdf.org.