Global Registry for Inherited Neuropathies


 
           

Understanding Your Participation

Sponsor: Hereditary Neuropathy Foundation, Inc. and Hannah's Hope Fund for Giant Axonal Neuropathy, Inc.

Principal Investigator: Dr. Sean Ekins

Telephone: 212-722-8396, toll free 855-HELPCMT (435-7268)

Address: Hereditary Neuropathy Foundation, 432 Park Avenue South, 4th Floor, New York, NY 10016

For the purpose of this Consent “the patient” will refer to the person diagnosed with a form of inherited neuropathy (IN). “You” will refer to the person entering the information. This may be the patient or a family member or guardian of the patient. Even patients who do not yet know exactly which form of inherited neuropathy they have can join the Registry.

We are asking you to enter personal and other information into the Global Registry for Inherited Neuropathies (which we will call The Registry).  It is important that we explain what is involved and what will be done with the information you provide. This section contains answers to questions about the information we want, why we want the information, how it might benefit you, and possible risks of giving us this information.  After you have reviewed “Your Participation” you will be directed to the Patient Consent form. You will be asked a series of questions. If you answer, “yes” to these questions regarding participation and use of the information you are providing you will have “consented”. Participation is optional. If you have questions that are not answered in this document, please contact the study coordinator at This e-mail address is being protected from spambots. You need JavaScript enabled to view it or call 212-722-8396. 

"What is a registry?"

A patient registry is a place to store detailed information about patients with a specific disease or syndrome. In this case, the Global Registry for Inherited Neuropathies is for patients who have either been clinically diagnosed by a doctor, or genetically diagnosed with a form of inherited neuropathy. Establishing The Registry addresses three critical needs. First, scientists studying various forms of inherited neuropathy (IN) need accurate information to understand the affects of specific forms of neuropathy. Second, scientists who are ready to start studies, such as those that test new treatments will need to access The Registry to identify people that may be eligible to participate in studies. Also, scientists may need tissue samples from patients with a particular form of neuropathy they wish to learn more about. If a patient looks like a good match for a scientist’s research the scientist will contact HNF. The Foundation or the foundation’s agent will then contact the IN family. Scientists will not contact families directly.

“What are the benefits of collecting patient information in a registry?”

Although there is no direct benefit to any patients participating in the registry, by collecting information on patients in The Registry, scientists can:

  • study why individuals have different symptoms.
  • learn about phenotype/genotype relationships (how a particular mutation type can lead to different or unique symptoms).
  • learn how future treatments work or don’t work for a given patient population.
  • obtain tissue samples from Registrants who consented to be contacted for such purpose.
  • help medical professionals improve how they treat patients with IN, for example, pain management.
  • speed up research in IN by collecting information that scientists can use.
  • let patients (or their family) know when they may be eligible for clinical research studies (clinical trials).

"Whose data are you collecting in The Registry?

Individuals who have a clinical or genetic diagnosis of inherited neuropathy can register.  The diagnosis does not need to be confirmed by genetic testing. 

"Who can sign the consent form?"

Patients over the age of 18 who understand the consent form (and thus do not have a legal custodian) are eligible to join The Registry on their own. Otherwise, the legal guardian, parent, or custodian of the patient must sign the consent for the patient to join. When the patient becomes 18 (and if they are able), consent will be obtained directly from the patient for continued participation. 

“What are the steps to filling out The Registry with patient information?”

If you are the patient’s representative, you should finish reading this Information for Patients. Then, decide if you want participate in The Registry. If so, you will need to sign the consent form. The next step is to provide basic information about you, to create a login username and password. Once you create this login, you are ready to create a profile by answering a series of questions. These questions will include your personal information, as well as information about your family member who has inherited neuropathy (IN). If more than one family member has IN, you can create a single-family account, register the first individual with IN, and then you will be able to add other family members with IN.

"Where will the data go?"

All of the information you provide will be maintained in a safe (“secure”) computer, and any information that could identify you and your family members will not be shared without your approval. 

"Will I be expected to provide The Registry with additional information in the future?"

Yes. The Registry is most valuable for scientific research when it is kept up-to-date. Therefore, you will be asked to update your profile and information once a year. The Registry can also be updated whenever there is a change in condition (gain or loss of skill), a new symptom or if you were to learn your mutation definition. We will send out notifications annually to remind you. We also ask you to fax or upload your genetic test results, and any other relevant reports or testing results.

"Who will have access to the medical and other records on The Registry?"

The goal of The Registry is to share detailed medical and other information with scientists and other researchers, while still protecting your privacy. This is done by hiding the name, address and other “identifying” information from the researchers. We call this “de-identified” or “de-coded” data (information from which all personal identification has been removed). That is what registered scientists, researchers, clinicians, and pharmaceutical companies will be allowed to see.

The de-identified data collected and compiled by The Registry belongs to the Hereditary Neuropathy Foundation and Hannah’s Hope Fund and will be shared with the research community. The HNF and HHF are the guardians of the information contained within The Registry. 

A subset of de-identified information collected from each profile may be shared with certain other databases. We will combine our data with a few other databases in order to develop global knowledge of IN that may lead to new research studies and clinical treatments.

The Registry has to follow rules to protect information about you. Federal and state laws also protect your privacy. This part of the consent form tells you what information about you may be collected in this study. It also tells you who might see or use your information. 

Generally, only the Registry Coordinator will know that you have given information and will see your information. However, there are a few exceptions that are listed later in this section of the consent form.

"What are the risks to registering?"

There is minimal risk in taking part in The Registry.  The Registry includes questions that can be sensitive and you may feel uncomfortable answering.  You do not have to share any information you do not want to.  Another unlikely risk is potential breaches in the computer system. In the event that there is a breach in the Registries’ computer system all participants will be notified.

"I want to be involved in a clinical trial.  If I register, is this guaranteed?"

Although one of the main goals of The Registry is to make it easier for patients to participate in research, there is no guarantee that you or your family member will be eligible for a trial.

(Please note that even if the coordinators of a clinical trial believe that you might be eligible for the trial, based on the data about you stored in The Registry, it is still possible that later on it will turn out that you do not meet the trial inclusion criteria after all. Please also be aware that if we inform you about the existence of a trial, this does not imply that we endorse it. In order to participate in any trial, you will need to fill out a separate informed consent form.)

"I don’t want to be involved in a clinical trial. Should I still register?"

Absolutely. We hope that you will still be willing to register, even if you don’t want to take part in a trial. Your information may still be useful to researchers who are trying to learn more about patients with IN. For example, it is important for researchers to learn which subset of patients that have a particular form of inherited neuropathy have milder symptoms, such that they would not risk participating in an experimental clinical trial.

"Can I withdraw if I change my mind?"

Your participation in this project is entirely voluntary. Should you change your mind and wish to withdraw your data from The Registry, you will be free to do so without having to provide any explanation. Simply contact The Registry Coordinator and all of your data will be removed from the database going forward. Data accessed prior to your request for removal cannot be retrieved from researchers that have already accessed it.

"If I have given data or information to doctors, researchers, clinics or hospitals in the past, is it OK to give my data to The Registry now?"

Yes. We will be taking precautions to make sure information used is not redundant with data that may have previously been collected.  

"What are my options if I do not want to be in the Registry?"

You do not have to join this Registry. 

"Will it cost me anything to be in this Registry?"

No. Also, you will not be paid for taking part in this registry.

Who should I contact if I have any questions?

• If there are questions about the registration process or about participation in The Registry that you do not understand, or to report problems that result from your participation, please contact the study coordinator at the telephone number listed on the first page or email the coordinator at  This e-mail address is being protected from spambots. You need JavaScript enabled to view it .

To inquire about your rights as a participant in The Registry, you may contact Chesapeake IRB at 410-884-2900 (collect), by email at This e-mail address is being protected from spambots. You need JavaScript enabled to view it , or by mail at Study Subject Adviser, Chesapeake IRB, 7063 Columbia Gateway Drive, Suite 110, Columbia, MD 21046. An IRB is a group of people who review research studies to protect the rights and welfare of research participants. 

For additional information regarding the terms and conditions of this web site or the privacy policy please go to Terms and Conditions | Privacy Policy.

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