What is a Patient Registry?
A patient registry is a collection of standardized information about individuals who share the same condition. The data can be collected in different ways to serve a variety of purposes. Patient registries allows for a deeper and broader understanding of rare diseases such as GNE Myopathy. Patient Registries can help improve the standard of care of patients, accelerate research, and empower the patient community.
Why do you need a patient registry and how is it different from other registries?
NDF has a patient registry to keep track of patients globally. NDF is the largest nonprofit organization in the world working specifically on GNE Myopathy (HIBM). As such, our efforts to bring patients together can help researchers, and those interested in developing therapies for GNEM. Our registry is an important component in our efforts to bring together patients and experts working on this disease.
Who is eligible?
Anyone, from any region of the world who has been diagnosed with GNE Myopathy (GNEM), previously known as Hereditary Inclusion Body Myopathy (HIBM), Nonaka myopathy, Distal Myopathy with Rimmed Vacuoles (DMRV), Quadriceps Sparing Myopathy, or Inclusion Body Myopathy type 2 (IBM2) is eligible to participate.
What information is collected and how is it stored?
Participants who wish to share their data, can choose how much and which information to share as part of the Patient Registry. The more information you share, the more it helps, but it is up to you.
The type of data collected includes personal data such as name, age, sex, genetic testing results, contact information, age of onset, age of diagnosis, first symptoms you noticed, and any clinical studies you have participated. You can share details about your doctor to be able to direct other patients in your country to healthcare practitioners who are familiar with GNE Myopathy. Finally, you can let us know if you are interested in getting contacted for future clinical trials.
Your information is collected electronically and a unique code will be assigned to your data to guarantee it is anonymized.
You can contact us at any point to request that your information is removed from our registry.
Is there a cost to register and will I be compensated for participating in the registry?
There is no cost to register and you will not receive any compensation for participating in the registry. You will not receive any royalties obtained from patents or commercial products developed as a result of the information that you provide in the registry. Participation in the registry may also identify you as a potential candidate for future clinical trials.
Do I have to be 18 to register?
No, you don’t have to be 18 years of age or older to be part of the registry. However, if you decide that you want to be included in the registry and have not yet reached legal age, your parents or legal guardian needs to give their permission for you to register. Once you reach age 18, we will contact you to ask you whether or not you would like to continue participating in the registry.
Is my data secured and who will have access to it?
The Neuromuscular Disease Foundation (NDF) is the guardian of the information contained in the Registry. We follow the United States HIPAA and European Union GDPR guidelines for registrants’ data protection. Only NDF staff and program managers who are part of the registry team have access to the secure data center that contains personal information. All information you provide will be encrypted and stored in a secure server.
When requested and warranted for specific studies, NDF may share de-identified registry information with researchers or other foundations after approval by NDF’s Registry Advisory Committee. De-identified means that your name and contact information are removed from your data before being shared with others. We are committed to protecting your personal information.
Information included in the Neuromuscular Disease Foundation Patient Registry will never be sold.
Can I remove my personal information from the registry if I change my mind and decide that I no longer want to participate?
Participation in the registry is voluntary. You can contact us to withdraw your consent and remove your personal information at any time. If you decide to do so, your information will be permanently deleted from our database. You may re-enter the registry at any time. To withdraw from the registry, contact: registry@curehibm.org.
Can I be removed from the registry without asking?
Yes, NDF may decide to remove you from the registry for reasons that are not your fault. For example, if you were misdiagnosed and you don’t have GNE Myopathy, your information would be removed. Removal of all your information from the registry will not affect your relationship with the Neuromuscular Disease Foundation and our community. You can still be part of the NDF community. If your information is removed from the registry, you will be notified using the contact information you provided.
I previously donated biological samples at one of your conferences to other Institutions, do I still need to register and will my previously-collected data collected thus far be included in this the registry?
We ask all GNE Myopathy patients to register, regardless of past participation in other study protocols. This is a separate registry. Genomic, metabolomics and proteomic data obtained through biological specimens collected by other Institutions as a part of standard of care or research studies are not part of the registry. Your data and medical records collected through other studies or by third parties will not be linked to this registry.
Does my doctor need to be involved in my participation?
No. You can fill out the registry information yourself. You can share the name of your doctor as a resource for patients living in your area that need a referral.
Will I be notified informed of any results arising from the use of my data?
Because the data is de-identified, there is no way to share results on an individual basis. However, any major finding obtained through the use of the registry will be posted on the NDF website.
Will I be notified NDF notify me when my data is shared with other parties?
No, you will not be notified every time your de-identified data is shared with others. However, you can request to know if your data was shared and a list of who NDF shared it with.
Should you have any further questions about the NDF Patient Registry or your participation in it, please contact the Registry Coordinator:
By email: info@CureGNEM.org
By mail: 269 S. Beverly Drive, Suite 1206, Beverly Hills, CA 90212
By telephone: 310-721-1605
If you are a diagnosed GNEM patients and would like to be included in our registry or on our list of patients, please email: or fax to (310)-496-0199.
