Clinical Research Pavilion

Attendees of MitoMed 2025 have the opportunity to participate in in clinical research via the Clinical Research Pavilion, including:

• Detailed Demographic
  Focuses on expanding specific demographics not collected in the general information completed at account creation.
• Diagnostic Intake Form
  Focuses on the diagnostic state of each patient.
• MSeqDR Eligibility
  Determines the patients eligibility to have their raw genomic data entered into the MSeqDR Database.
• Nutrition Support and Diet
  Focuses on the patients nutrition support and any diet they follow.
• Assistive Technology Assessment
  Assess the needs of the patient community with Assistive Technology.
• Health & Development
  Reviews the patients symptoms as a quick snapshot of their overall health.
• Additional Patient IDs
  Identifies unique IDs for patients, such as CRID, GUID, etc.
• Other Names
  Helps to ensure that patients are properly identified when creating GUIDs.

• Mitochondrial Disease Biorepository Sample Collection
  Help researchers understand your disease by participating in UMDF’s biorepository, in partnership with COMBINEDBrain. Patients with any form of a genetically confirmed mitochondrial disease can donate a sample or samples — blood, urine, or nasal swab. (Note participants must have genetic test submitted approx. 4-6 prior to event)

• MM Coast Study
  This is a pilot study with the Children’s Hospital of Philadelphia, to assess the feasibility  and clinical meaning of digital wearable data in comparison to our validated myopathy assessments.

• MitoARCH
  
  Are you a mitochondrial disease patient age 12 and older?
  Do you have a genetically confirmed primary mitochondrial disease?
  Consider participating in the mitoARCH study.The mitoARCH study is a sub-study of the mitoSHARE registry and is designed to better understand the impact of primary mitochondrial disease (PMD) caused by confirmed DNA mutation on the cognitive abilities of patients.We would like to understand how PMD affects your memory, thinking and how your brain processes information. Results from this study will help us better design clinical trials so we can develop a drug that works on the symptoms most common and most meaningful to patients.As a participant in the study, you will be asked to:

  1. share your medical history by filling out the mitoSHARE surveys

  2. complete online questionnaires concerning your experience with fatigue

  3. complete 4 electronic cognitive assessments (~30 minutes)

  These tasks will be completed in-person, at the UMDF annual conference research pavilion in St. Louis Missouri June 18-20th, 2025. One of the surveys will need to be completed 2 weeks prior to the in-person meeting.

• The MERLIN Study: A MitoShare Sub-Study Exploring Fatigue and Mobility

  You may be able to join the study if:

  • You are 18 years or older

  • You have a confirmed primary mitochondrial disease diagnosis caused by a known pathogenic gene mutation or deletion in the mitochondrial DNA that affects more than one body system

  • You are experiencing fatigue, muscle weakness, and/or exercise intolerance

  • You register/are registered in MitoShare

  • Other criteria will need to be met to confirm your eligibility for this study.

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    If you qualify, you will be asked to:

    • Share pre-existing data from the MitoShare registry

    • Complete online questionnaires concerning your experiences with fatigue and mobility (every 3 to 6 months)

    • Perform the 30 second sit-to-stand test (every 3 to 6 months)

To kickstart your pavilion inclusion, join mitoSHARE today.

Questions? Email [email protected] for more information on the Clinical Research Pavilion.