You have the right to know about the procedures, risks, and benefits of participating in the Patient Registry. To participate in this registry, you will need to give your consent. If you decide to participate, you can change your mind later and leave the registry. Please take your time to make your decision and discuss it with your family, friends, and caregivers. The consent process will be proved to you when you register for an account on this site.

After joining the registry, a participant may be invited to participate in a clinical trial. Participation in a clinical trial, if the participant qualifies, will be based solely upon the voluntary consent of the patient.

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 share.

There may be risks to your privacy. The Patient Registry will store study records and other information about you in a secure location and will grant access only to personnel authorized by the Registry Coordinators. Compliance to HIPAA and FISMA rules and standards and an annual review of the registry by an Institutional Review Board (IRB) serve to minimize risks to the patient. However, just like other personal information kept by your health care providers, your banks, and others, even these safeguards cannot guarantee absolute protection of the data. If private information gets into the wrong hands, it can cause harm. Although rare, there are reported cases of breaches that have resulted in discrimination in insurance or employment. In the event there is a breach in the registry’s computer system, all participants will be notified. If you would like more detailed information regarding the security of the Patient Registry, please contact the registry coordinator at coordinator@LGDARegistry.org.

Providing your information to the registry and participating in this registry is voluntary.  Participation may not benefit you personally, medically, or financially.  However, your participation may help all those affected by these conditions by increasing the understanding of the disease. Collected data may help speed up research by collecting information scientists can use.  Researchers may learn whether and how treatments work. Medical professionals may be able to improve how they treat the disease.  Participants may receive information about opportunities to participate in research, clinical trials, medical advances and other news from the registry. Participants will also have instant access to de-identified patient questionnaire responses.

Participating in this registry is your choice, is completely voluntary, and will not affect your healthcare.

If you decide to participate in the registry, you can decide to stop at any time. Simply contact the registry at the email address or telephone number listed on the contact page, and all of your data will be removed from the Patient Registry. However, pre-authorized de-identified data cannot be retrieved from researchers that have already accessed it prior to your request for removal.

The Registry Coordinator may withdraw you from the registry if circumstances arise which warrant doing so even if you would like to continue.

We will tell you about new information or changes in the registry that may affect your willingness to continue your participation.

The goal of the Patient Registry is to share detailed medical and other information with scientists and other researchers while still protecting your privacy.  All of the information you provide will be maintained in a safe (“secure”) HIPAA- and FISMA- compliant environment (please see Glossary), and any information that could identify you and your family members will not be shared without your approval.

Your privacy will be protected by hiding the name, address, and other “identifying” information from researchers. We call this information “de-identified” because all personal identifiers have been removed.  Your personal information such as your name, address, or other information that identifies you or your family will be labeled with a code number, encrypted (coded), stored and protected with a password. Only authorized people who work on the registry will know the code and be able to identify you if needed. Any individual authorized by the Registry Coordinator to work on the registry has completed HIPPAA awareness certification. The Patient Registry Dat Coordinator is the guardian of the information contained within the registry.

Your identifiable information will not be shared with anyone outside the registry. Approved scientists, researchers, and clinicians will be allowed to see only the de-identified data for their studies. Your identifiable information will not be shared with anyone outside the management of the Patient Registry unless you give your permission to share it.

You may request that the de-identified data about you collected and compiled by the registry be removed at any time.

During the consent process, you may agree to share a subset of de-identified information collected from your profile with global registries that collect data from other rare diseases.

The registry has to follow US federal and state rules to protect your privacy.

Only authorized members of the Registry Team, who have a need to, will know that you have registered and answered the enrollment questionnaire. Only they will see your personal information with a few exceptions that are listed below.

The Registry will make every reasonable effort to assure that your personal information, in our possession, will be kept confidential. However, we cannot guarantee total privacy. Your personal information may be released if required by law. If information from the registry is published or presented at scientific meetings, your name and other personal information will NOT be used.

The Registry owns the registry data. This registry will be managed by Invitae, a company that manages other rare disease registries like this Patient Registry. Invitae is hosted in a HIPAA and FISMA compliant infrastructure with dedicated firewalls and advanced intrusion detection to secure the participant's data. All registry network transmissions are encrypted for an added level of protection. All transmissions are sent via encrypted SSL (Secure Sockets Layer, i.e. a system of codes that provide communication security over the internet), and personal health information will be encrypted in the database.

Invitae strictly follows the rules and standards provided by HIPAA and FISMA. The Food and Drug Administration (FDA) and Western IRB may also inspect the registry records. An IRB is a formally recognized, qualified team that reviews and monitors research studies to protect the rights and welfare of research participants.

In the event the Registry or its managing organiztions ceases to exist (this is not likely), all attempts will be made to find another suitable entity to take ownership of the registry. You will be asked to give your consent to the transfer of your data (identifiable and de-identifiable information).  The data of those not consenting for such a transfer will be destroyed. If all attempts fail to find a suitable entity, then all data collected by the Patient Registry will be destroyed, thus protecting your privacy. You will be contacted and informed of this action.

If you would like more detailed information regarding the security of the Patient Registry, please contact the registry coordinator.

There is no charge for you to participate in this registry.  Neither you nor your insurance carrier will be charged for participating in the registry. 

You will not be paid for taking part in this registry.  The Registry maintains ownership of the de-identified data collected and compiled by the registry and is the guardian of the information contained within the registry. You will have no property ownership or interest in such data derived from the registry and no right or entitlement in any research or research product using or derived from the data.  However, on the registry site, you will have access to statistics on how other registry members have responded to questions, and if you would like to, you will have access to view the studies we publish here.. 

1. You, or your authorized representative, should read "Understanding Your Participation," and then decide if you want to participate in the registry.
2. If you choose to participate, you, or your authorized representative, will need to complete and sign the Consent Form, affirming that you understand the risks and benefits of participation, and that you agree to participate in the registry.
3. The next step is to provide basic information about you to create an account with a login user name and password.
4. Once you create this account, your name and email address will be sent to our administrator who will confirm to you that you are now a member of the registry.

Once you create an account, you will be able to access the registry survey. The questions in the survey will include your personal information. You do not have to complete the entire survey at one time. All your answers will be saved, and you can go back to complete the questions as well as change your answers if you make a mistake or update your information at any time. If you need more than three days to fill out the survey, please notify us.

If more than one family member is affected by this condition, you can create a single-family account. First register one individual with the condition and answer the survey. Then you will be able to add other family members to the same account. Each individual family member must provide his or her own consent and enter his or her own data. The value of the family account is to link records from multiple family members.

You will be asked to update your registry information at least once a year. The registry will automatically send you a reminder each year, but you can also update your information when you have new information. The registry may also ask you to fax, mail or upload your test results, and any other relevant reports or testing results. Your registry account can be updated whenever there is a change in the patient’s health, change in medication, or new symptoms. If the registry cannot contact you, your account may become inactive.

In the future, the registry may be linked to a biobank which is a place that stores tissue, blood or other samples from patients.  If a biobank is created for people similar to those in The Registry, you may be asked to donate samples to the biobank. If you decide to donate your samples, you will be asked to provide separate consent for the biobank.  

Yes, the legally authorized representative of an adult patient, legal guardian of a minor or parent of the patient can give consent for the patient to join and can complete the patient survey on behalf of that patient. When the patient turns 18, consent for continued participation will be obtained directly from the patient if they do not have a legally authorized representative. Those minors who choose not to re-enroll as adults will have their records deleted from the registry.   

Patients over the age of 18 who understand the consent form (and who do not have a legal guardian) are eligible to join the registry and must sign the consent form. Otherwise, the legally authorized representative of an adult patient, legal guardian of a minor or parent of the patient must give consent for the patient to join. When the patient turns 18, consent for continued participation will be obtained directly from the patient if they do not have a legally authorized representative. Those minors who choose not to re-enroll as adults will have their records deleted from the registry.   

Yes, it is okay. It is important that you join other registries. Your information may be used differently, for different purposes or prespectives. One of the main goals of this Registry, and our registry programs in general, is to communicate the message that YOUR data is important.  This does not affect the care you are given by your physicians but may impact the care given to you or others in the future.

The registry will take somewhere between 30 minutes and an hour to join and complete the first survey. You will be asked to provide documentation of your diagnosis. You can start the registration process and return to it.   

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 will be eligible for a trial. Even if you are eligible for a trial based on the data you store in the registry, it is possible that you do not meet the trial requirements. In order to participate in any trial, you will need to discuss the trial with the research staff and fill out a separate informed consent form specific to the trial. Informing you about the existence of a trial does not imply that The Registry endorses it. Before you consent to be in a clinical trial, you should discuss your participation with your physician.

Even if you do not want to take part in a clinical trial, your information will still be useful to researchers who are trying to learn more about patients with this (and similar) conditions. By joining the registry, you will be helping to better understand the geographical distribution of the affected population, the progression of disease, evaluation of treatments and tests, monitoring the safety of medications, and more.

If you have any questions about the registration process, about participation in the registry, or about reporting problems that result from your participation in the registry, please contact the registry coordinator at coordinator@LGDARegistry.org.

If you have any questions or complaints about your rights as a research participant contact Chesapeake IRB, at 410-884-2900 (collect), by email at adviser@irbinfo.com, or by mail at Study Subject Adviser, Chesapeake IRB, 7063 Columbia Gateway Drive, Suite 110, Columbia, MD 21046. An  IRB  (Institutional Review Board) is a group of people who review research studies to protect the rights and welfare of research participants.

If there are questions in the registry that you do not understand please contact the Registry Coordinator at coordinator@LGDARegistry.org.

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