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Disease Information

  • GNE Myopathy (GNEM) is also known as Hereditary Inclusion Body Myopathy (HIBM), Quadriceps-Sparing Myopathy (QSM), Distal Myopathy with Rimmed Vacuoles (DMRV), Nonaka Myopathy or IBM Type 2.

  • GNEM is a rare, severe, and progressive genetic muscle disease due to mutations in the GNE gene.

  • The first symptom of GNEM is often foot drop, which is when lifting the front part of the foot becomes difficult, so the front of the foot is dragged on the ground when walking.

  • As additional muscles become affected by GNEM this leads to difficulties climbing stairs or getting up from a sitting position, and weakness of the hands and shoulder muscles.

  • People with GNEM typically start to show muscle weaknesses around 20 to 30 years of age. Over the following 10 to 20 years, many people with GNEM progressively lose muscle abilities and may eventually require a wheelchair.

  • There are no current approved treatments for GNEM.

GNEM-DMP

The GNEM disease monitoring program (GNEM-DMP) is a way to follow how your disease is affecting you and other people with GNEM, and a way to guide researchers to design clinical trials and develop potential treatments. There are two separate parts to the GNEM-DMP:

  • The patient-reported part, or online registry:

    • includes people with GNEM who are 18 years and older from all over the world

    • allows people with GNEM to confidentially record and track their own health information (data) through a secure online registry website

    • will allow people with GNEM, in the future, to download reports of their entered health information to see how they are doing and to share with their doctors

    • will bring together people with GNEM, doctors, researchers and treatment developers to collect and share the anonymous disease information to help improve the standard of care for everyone with GNEM

    • can open the doors to greater understanding and future treatment development for GNEM

    • does not include experimental treatments or procedures

    • SIGN UP TO PARTICIPATE IN THE ONLINE REGISTRY BY VISITING THE Sign Up PAGE


  • The physician-reported part, or natural history study, where people with GNEM who participate:

    • attend a 1-day study visit at participating study sites in Europe or North America

    • will be asked to complete a series of tests and answer questions about how GNEM is affecting their lives. The combined test results of all patients will provide a better understanding of how GNEM progresses over time which, in turn, will help researchers design future clinical trials for testing potential GNEM treatments

    • does not include experimental treatments

    • FOR MORE INFORMATION CLICK HERE

Supporters

The GNEM-DMP is supported by a partnership between TREAT-NMD and Ultragenyx. There is also a Steering Committee (as described in more detail below) that will maintain the confidentiality of the anonymous health information.

Ultragenyx is a biopharmaceutical company committed to developing novel products for the treatment of rare and ultra-rare diseases, or diseases that affect very small numbers of patients. Founded in 2010, the company is developing potential therapies for diseases where there is a high unmet medical need, and for which there are no approved therapies. The team at Ultragenyx is concerned about patients and takes our commitment to deliver safe and effective therapies to patients with the utmost urgency very seriously. Visit Ultragenyx site

TREAT-NMD is a network that provides an infrastructure to ensure that the most promising new therapies for neuromuscular diseases reach patients as quickly as possible. The network includes doctors, scientists and patient organizations. The network’s fundamental goal is to address the difficulties currently delaying clinical trials for neuromuscular conditions and preventing all patients receiving unified care. TREAT-NMD encourages experts in the field to work together to share good practice and to improve global standards of care. [www.treat-nmd.eu/]

The Steering Committee for the GNEM-DMP is made up of patient group leaders (Carolyn Yashari Becher from Neuromuscular Disease Foundation and John Hakimi, PhD), experts in GNEM (Zohar Argov, MD, Professor (Emeritus) from Hadassah-Hewbrew University Hospital and Ichizo Nishino, MD, PhD from National Institute of Neuroscience) and personnel from TREAT-NMD (Hanns Lochmuller, MD, PhD and Oksana Pogoryelova, MD, PhD) and Ultragenyx (Emil Kakkis, MD, PhD and Alison Skrinar, PhD). The Committee will work together to make sure that the protection of patient privacy and access to the anonymous health information are maintained. They will review and assess inquiries to the GNEM-DMP and, if appropriate, approve and release anonymous health information to qualified researchers. Please review the Privacy page for additional information about participant privacy and data security.

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