Understanding Your Participation

On July 15, 2014, the Phelan-McDermid Syndrome Foundation made important updates to the Registry in response to new research opportunities in Phelan-McDermid Syndrome. For more details click here.

Understanding Your Participation

IMPORTANT: The PMSIR is a database of patient information that actively being used for research. It is VERY important that you do NOT make “test” or fake accounts in the registry. Doing so will alter the data and disrupt the research studies using it. If you are a parent, caregiver, or researcher who needs more information, please contact the Registry Coordinator (This email address is being protected from spambots. You need JavaScript enabled to view it.) and she would be happy to help you.

Introduction

You are being asked to participate in an online patient registry to help researchers learn more about Phelan-McDermid Syndrome. This Q&A and the associated consent form explain what will happen and what you can expect from agreeing to participate in the registry. Please read this information carefully. Take as much time as you need. If you have any questions, please ask them. You can email This email address is being protected from spambots. You need JavaScript enabled to view it. with your question, and you can choose to wait to decide to participate in the registry until your question is answered.

You are a volunteer. You can choose whether or not you want to participate in the registry. You may also stop or quit participating at any time. There will be no penalty if you decide not to participate or to withdraw your consent and participation at any time. No matter what you decide, it will not affect your health care or the services the Phelan-McDermid Syndrome Foundation can provide to you.

For the purpose of this "the patient" will refer to the person diagnosed with Phelan-McDermid Syndrome, a SHANK3 deletion or Glossary Link mutation or a related SHANK3 diagnosis. "You" will refer to the person entering the information. This may be the patient or a family member or guardian of the patient.

We are asking you to enter personal and other information into the Phelan-McDermid Syndrome International Registry (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 requested in the Registry, why the information is requested, how it might benefit you, and possible risks of providing this information. After you have reviewed “Understanding Your Participation” you will be directed to the Informed Consent form. You will be asked a series of questions. In order to complete the consent and to participate in the Registry, you must answer all of these questions, and must select the two boxes at the end: “I agree to the terms and condition” and “I agree to participate in the Registry”. All of the other questions you may answer either Yes or No to indicate your preferences for participating in the Registry

Important Update

The Foundation regularly participates in opportunities to advance knowledge of Phelan-McDermid Syndrome. These opportunities include sharing de-identified participant information with other databases and research initiatives. The informed consent completed by participants prior to July 15, 2014 included consenting to share de-identified registrant entered data with IRB-approved research databases designed to advance knowledge in PMS and related health conditions. Examples of such databases include dbGaP (http://www.ncbi.nlm.nih.gov/gap), dbVar (http://www.ncbi.nlm.nih.gov/dbvar/), and NDAR (http://ndar.nih.gov/ndarpublicweb/). We want to make you aware of an additional database that may receive de-identified registrant data: the Phelan-McDermid Syndrome Data Network (PMS_DN). This data network will be housed at Harvard Medical School, and is a part of a contract the Foundation was recently awarded from the Patient Centered Outcomes Research Institute. The database will connect de-identified registrant data with knowledge learned from medical records uploaded to the registry, to increase knowledge about PMS. Researchers will have access to de-identified patient data in the PMS_DN portal as another way to learn more about PMS.

For participants that have completed the informed consent previously, we are asking participants to update their consent to allow for this new level of collaboration. The change pertains to Question 2 of the informed consent on the following page. Please note that you are not required to update your consent, and if you choose not to, you will still be able to participate in the Registry. If you have not yet enrolled in the Registry, the informed consent you review and complete will be updated consent (you will not need to revisit the Registry to update your consent).

"What is a patient registry?"

A patient registry is a place to store detailed information about patients with a specific disease or syndrome. In this case, the Phelan-McDermid Syndrome International Registry is for patients with Phelan-McDermid Syndrome or related disorders. Establishing the Registry addresses two important needs. First, scientists studying PMS need accurate information directly from patients or caregivers to understand how Phelan-McDermid Syndrome affects people. Second, scientists who are ready to start studies to learn more about Phelan-McDermid Syndrome, including treatment options, need to find people to participate in these studies. The Registry helps Phelan-McDermid Syndrome Foundation identify people eligible to participate in studies. The Foundation or the Registry Coordinator will contact eligible patients or caregivers about research studies. Researchers will not contact families directly.

"What is the purpose of collecting patient information in a registry?"

By collecting information on patients in the Registry, scientists can:

  • study why individuals have different symptoms.
  • learn about how certain treatments work and don't work.
  • help medical professionals improve how they treat patients with PMS.
  • speed up research in PMS by collecting information that scientists can use.
  • let patients (or their family) know when they may be eligible for clinical research studies or clinical trials.

"Why am I being asked to participate in the Registry?"

You are being asked to participate because you are an individual or a caregiver, family member, or guardian of an individual with a diagnosis of Phelan-McDermid Syndrome, a diagnosis of 22q13 Deletion Syndrome, a SHANK3 deletion, or a SHANK3 mutation (the diagnosis must 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 guardian or personal representative) are eligible to join the Registry on their own. Otherwise, the parent, personal representative, legal guardian or custodian of the patient must sign the consent for the patient to join. When the patient becomes 18, if the patient is able to provide informed consent and the patient no longer wishes to participate in the Registry, the patient may choose to contact the Registry Coordinator and withdraw their consent.

"What will happen if you choose to participate in the registry?"

  • If you are the patient's representative, you should finish reading this Understanding Your Participation.
  • You will indicate that you agree to participate in the Registry by providing your name and contact information on the Informed Consent Form.
  • You will be asked to print the signed consent form to keep a copy for yourself.
  • You will be asked to provide basic contact information and to create a username and password to access the online Registry. A confirmation email will be sent to you.
  • When you log into the registry, you will be asked to complete three or more questionnaires. These include questions about clinical information, diagnoses, and experiences with Phelan-McDermid Syndrome. If more than one family member has Phelan-McDermid Syndrome, you need to create a different account for each affected person (for example, if you have a son and a daughter with PMS, then your son will have an account just about him, and your daughter will have a completely separate account just about her).
  • The time to complete the questionnaires will be different for each person. You can complete the questionnaires at your preferred pace. You can save what you have completed and return to complete questions at a later time.
  • You will be asked to upload attachments to the Registry; these may include medical records, genetic reports, scans of images (e.g. CAT scans, MRIs) and other relevant PMS-related reports, data, or documents. If you want to provide these documents to the Registry but the file size is too large, contact the Registry Coordinator for instructions.

"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 Foundation will send out notifications annually to remind you. The Foundation may also contact you to request that you fax or upload your genetic test results, and any other relevant reports or testing results. The Registry can also be updated whenever there is a change in condition (gain or loss of skill), change in medication, or new symptom.

"How does the Registry protect the confidentiality of participants?"

All research projects have some risk that people outside of the project may learn information about you. The Registry managers have taken important action to reduce this risk. The Registry is hosted by PatientCrossroads, a leader in developing registry systems that connect rare disease patient communities with scientists studying those conditions. PatientCrossroads complies with important research and privacy regulations with regard to protecting patient data in research. Your account will be protected by the username and password you select in setting up your account. The Registry has to follow rules to protect information about you. Federal and state laws also protect your privacy. Generally, only the Registry Coordinator will know that you have given information and will see your information. However, there are a few exceptions that listed later in this section of the consent form. Only the Registry Coordinator and key staff at PatientCrossroads and the Foundation will be able to view your information. This access is for quality purposes and to respond to questions you may have as you enter information into the Registry.

Upon registering, the Registry will assign you a unique numeric identifier. This number will be used in place of your identifying or personal information when researchers access the Registry for IRB-approved studies. Any information that could identify you and your family members will not be shared without your approval. A subset of de-identified information collected from each Registrant profile may be shared with certain other databases in order to develop global knowledge of PMS that may lead to new research studies, clinical trials, and clinical treatments.

The data collected and compiled by the Registry belongs to the Phelan-McDermid Syndrome International Registry community. The Foundation is the guardian of the information contained within the Registry.

"What are the risks to registering?"

There are no physical risks to you or your family for participating in the Registry. There is minimal risk in taking part in the Registry. The Registry includes questions that can be sensitive and you may feel uncomfortable or anxious answering. These questions include those about your health or your family's and treatment for a serious medical condition. You do not have to share any information you do not want to. Another risk, however unlikely, is potential security breaches to the PatientCrossroads platform. In the event the there is a breach all participants will be notified.

"What are the benefits to registering?"

There is no direct benefit to you for participating in this Registry. You may benefit from knowing that what you share with the Registry will be used to help people and families like yours due to better understanding of Phelan-McDermid Syndrome or advancing research into treatments and care for the condition.

"Will I receive compensation for participating in the Registry?"

In general, the answer is no. For some IRB-approved research studies, an incentive will be provided to families for completing additional questionnaires or uploading attachments to the Registry. This incentive may be valued up to $25 for all participants, or the Foundation may conduct a raffle where individuals who register for the Registry, complete a particular questionnaire or share particular reports may be eligible to win a non-monetary prize (e.g. an iPad).

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

No.

"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 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 at a later date you may no longer meet the trial inclusion criteria. 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 PMS.

"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 (This email address is being protected from spambots. You need JavaScript enabled to view it.) and all of your data will be removed from the database going forward. Please note that 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 the alternatives to participating in the Registry?"

You are a volunteer. You can choose whether or not you want to participate in the Registry. You can stop participating and request removal of your information at any time. You can choose not to answer a question that your are asked. There will be no penalty if you decide that you do not want to be in the Registry. The care that you receive or the services provided by the Foundation will not change whether you say yes or no.

"Who should I contact if I have any questions?"

If there are questions regarding the meaning of a word or term, first go to the Glossary tab found at the top for more information. If you have further questions, please contact the Registry Coordinator at This email address is being protected from spambots. You need JavaScript enabled to view it. or simply type your question into the "Ask an Expert" tab found at the top of each page of the Registry.

If you have any questions about the registration process or about participation in the Registry, please contact the Registry Coordinator at This email address is being protected from spambots. You need JavaScript enabled to view it..

To inquire about your rights as a participant in the Registry, or to report problems that result from your participation in the Registry, you may contact Chesapeake Research Review, Inc., a research ethics board that oversees this study at This email address is being protected from spambots. You need JavaScript enabled to view it. or via phone or in writing. Reference PR00006079:

Melanie L. Sedgwick, MS, CIP
Project Coordinator, Chesapeake IRB
6940 Columbia Gateway Drive, Suite 110
Columbia, MD 21046-3403
Telephone: 410.884.2900
Fax: 410.884.9190

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