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Participation

Who Can Participate?

To participate in the online registry part of the GNEM-DMP, you must:
  • Be 18 years or older
  • Have a diagnosis of GNEM (also known as HIBM, DMRV, QSM, Nonaka Myopathy or IBM Type 2)
  • Be willing to provide electronic consent to provide your medical information

Even if you are participating in another registry, natural history study or clinical trial, you can still participate in the GNEM-DMP, by signing up here.

Patient Information and Informed Consent

  • Patient information and informed consent means providing patients with information about a study or a registry, so they can make an informed choice about whether or not they want to participate. Participation in any study or registry is always voluntary and there are no consequences if you choose not to participate or if you choose to participate but later choose to withdraw your participation.
  • If you decide to participate, the first thing you will be asked to do once you log onto the GNEM-DMP registry website is sign the electronic informed consent form.

What information will be collected?

  • You will be assigned an online profile where you can complete a series of questionnaires about your:
    • disease
    • general medical history
    • medications
    • quality of life
    • ability to move
    • muscle biopsy or genetic testing (if applicable)
  • The first set of questionnaires will take approximately 1.5 hours to complete and you can:
    • complete as many questions as you want at a time
    • take breaks while completing the questions, and always return to your profile and complete the rest of the questions at a later time
    • ask your doctor to help in answering the questions
  • TREAT-NMD will contact you in 6 months, 12 months and then yearly thereafter for up to 15 years to ask you to update your information if you choose to do so.

Additional Features

  • You will have the option of being contacted about:
    • advances in GNEM research
    • new studies and trials in GNEM
    • whether you may be a candidate for these new studies or trials
  • In the future, if you choose to, you will be able to:
    • download your health information at any time to take to your doctor's appointments
    • create reports to compare yourself to the group of other anonymous people with GNEM in the database
  • The TREAT-NMD study team will notify you of any new significant findings related to the GNEM-DMP.

The International GNE Myopathy Disease Monitoring Program (GNEM-DMP) - an ongoing longitudinal cohort study with two components, an in clinical physician reported component (sometimes referred to as Natural History Study) and an online patient reported component (also referred to as Registry).The GNE Myopathy Disease Monitoring Programme (GNEM-DMP) Registry is a global, voluntary database that will collect and report demographics, disease, and quality-of-life information directly from participants with GNE Myopathy via a secure database. The GNEM-DMP is conducted by TREAT-NMD and Ultragenyx Pharmaceutical.The GNEM-DMP Registry includes GNEM Patients from over 25 countries and is open to all GNE myopathy/Hereditary Inclusion Body Myopathy (HIBM)/Quadriceps-Sparing Myopathy (QSM)/Distal Myopathy with Rimmed Vacuoles (DMRV)/Nonaka Myopathy and IBM Type 2 patients worldwide, irrespective of treatment status. Oversight is provided to the GNEM-DMP Registry by an independent Steering Committee of international physicians, advocacy group members, TREAT-NMD and Ultragenyx representatives. The GNEM-DMP Registry will later include a portal for clinicians to access and enter data or verify data for GNE Myopathy patients under their care.The primary objectives of GNEM-DMP are to:• Identify GNE Myopathy (Hereditary Inclusion Body Myopathy (HIBM)/Quadriceps-Sparing Myopathy (QSM)/Distal Myopathy with Rimmed Vacuoles (DMRV)/Nonaka Myopathy and IBM Type 2) patients worldwide.• Promote awareness and facilitate diagnosis of GNE Myopathy, (Hereditary Inclusion Body Myopathy (HIBM)/Quadriceps-Sparing Myopathy (QSM)/Distal Myopathy with Rimmed Vacuoles (DMRV)/Nonaka Myopathy and IBM Type 2 disease) in the neuromuscular field.• Obtain an assessment of the medical history, clinical presentation and progression of disease in GNE Myopathy, (Hereditary Inclusion Body Myopathy (HIBM)/Quadriceps-Sparing Myopathy (QSM)/Distal Myopathy with Rimmed Vacuoles (DMRV)/Nonaka Myopathy and IBM Type 2 disease) patients and provide a connection for subjects to the broader GNE Myopathy community and associated programs.• Provide customized information to subjects and their physicians that desire information on their disease status and progression.You can confidentially record your GNE Myopathy, (Hereditary Inclusion Body Myopathy (HIBM)/Quadriceps-Sparing Myopathy (QSM)/Distal Myopathy with Rimmed Vacuoles (DMRV)/Nonaka Myopathy and IBM Type 2 disease) health information in the patient-reported registry of the GNEM-DMP. With global patient participation in the GNE Myopathy international patient registry, we can meet the following goals:For You: To help you track your GNE Myopathy condition, (Hereditary Inclusion Body Myopathy (HIBM)/Quadriceps-Sparing Myopathy (QSM)/Distal Myopathy with Rimmed Vacuoles (DMRV)/Nonaka Myopathy and IBM Type 2 disease) you will be able to download reports in the future to find out how you are doing and, if you choose to, compare yourself to the group of other anonymous people with GNEM in the database.For Doctors: To help doctors better manage their patients by understanding more about how GNE Myopathy, (Hereditary Inclusion Body Myopathy (HIBM)/Quadriceps-Sparing Myopathy (QSM)/Distal Myopathy with Rimmed Vacuoles (DMRV)/Nonaka Myopathy and IBM Type 2 disease) affects the body and quality of life over time.For Researchers: To help researchers design clinical trials or research studies and develop potential treatments for GNE Myopathy, (Hereditary Inclusion Body Myopathy (HIBM)/Quadriceps-Sparing Myopathy (QSM)/Distal Myopathy with Rimmed Vacuoles (DMRV)/Nonaka Myopathy and IBM Type 2 disease).For the World: To help increase awareness about this rare disease/condition and help improve the standard of care for all people with GNE Myopathy, (Hereditary Inclusion Body Myopathy (HIBM)/Quadriceps-Sparing Myopathy (QSM)/Distal Myopathy with Rimmed Vacuoles (DMRV)/Nonaka Myopathy and IBM Type 2 disease).Visit: www.gnem-dmp.com to learn more