Title of research study and general information

Study title: Adult Polyglucosan Body Disease Registry Study number: IRB-AAAM7351 Participation duration: Indefinite Anticipated number of subjects: 500 Sponsor/Supporter: Adult Polyglucosan Body Disease Research Foundation If you have questions about this research, contact: Dr. Salvatore (Billi) DiMauro Lucy G. Moses Professor of Neurology Columbia University Medical Center 630 West 168th Street, P&S 4-424B New York, NY, 10032 E-mail: sd12@columbia.edu Phone: 212-305-1662

Research Purpose

Adult Polyglucosan Body Disease (APBD) is a rare inherited disorder that affects the nervous system. It usually occurs later in life and progresses slowly. People with this condition develop problems in their ability to walk, speak and function normally in a variety of ways. APBD is caused by a genetic mutation which leads to the build-up of abnormal glycogen, called polyglucosan bodies (PBs), which are starch-like and difficult to dissolve. Because PBs collect in the neurons, brain cells which conduct messages from the brain to the rest of the body, they block the action of these neurons. This can produce problems in the brain, muscles and liver. The disease typically affects men and women over age 40, particularly of Ashkenazi Jewish ancestry. Due to symptoms shared with more common conditions such as prostate hyperplasia, dementia, ALS, Alzheimer’s, and multiple sclerosis, APBD is often mis-diagnosed or under-diagnosed. Much remains unknown about APBD. Because of lack of awareness of the disease and the difficulty in diagnosing it, the number of people living with APBD is uncertain. Even when patients are finally properly diagnosed, the cause of the disease’s late onset and unpredictable symptom development are still not well understood. Many APBD cases in men were originally diagnosed as enlarged prostate conditions, but were identified correctly only after extensive invasive testing and in some cases unnecessary surgical procedures. Currently treatment is mainly supportive rather than curative, addressing symptoms such as difficulty walking, lack of bladder control and dementia. Because of lack of awareness of the disease and the difficulty in diagnosing it, the number of people living with APBD is uncertain. The Adult Polyglucosan Body Disease Research Foundation (APBDRF) is dedicated to increasing public awareness and understanding of APBD, and supports research into the causes of the disease and potential treatments. They are collaborating with Columbia University to create an APBD Registry. The Registry will collect, securely and confidentially, clinical and contact data on self-reported patients with APBD, and on their close relatives. Participants will enroll via a secure web site, hosted by the Columbia team, and enter data about themselves into the site. Participants need only enter data they are comfortable entering, and can decline to submit contact information or detailed medical information. The APBD Research Foundation may ask Columbia University to send information to participants who agree to be contacted, in order to increase awareness of their activities and help recruit participants for future research. The clinical data, with all identifiers removed, will be made available to approved researchers to help describe the population of those with APBD, and to help understand the disease's symptoms and progress.

Information on Research

The APBD Registry is a research study conducted by Columbia University in collaboration with the APBD Research Foundation. You are being asked to take part in this project because either 1) you have been diagnosed with Adult Polyglucosan Body Disease (APBD) or 2) you have a sibling, child or parent who has been diagnosed with APBD. Around 500 people are expected to be enrolled in this project. The purpose of this consent form is to provide information to help you decide if you want to participate in a disease registry. The clinical information that you provide may be used in studies to develop new treatments, develop diagnostic tests, or to help us learn more about APBD. This consent form includes information about: A) Why the project is being done; B) The things that you will be asked to do if you participate; C) Any known risks involved; D) Any potential benefit; E) Options other than participating. If at any time you have questions about the project, please ask a member of the project team. Take all the time you need to decide whether you want to participate in this research project. Definition and Purpose of a Disease Registry A disease registry is a database designed to store medical and contact information about patients with the same or similar disorders, as well as their family members. Disease registries exist for many other disorders. The Adult Polyglucosan Body Disease (APBD) registry will collect information on patients who have been diagnosed with APBD, as well as their close relatives. The information will be stored in a database that is located at and managed by Columbia University in New York City. The purpose of a disease registry is twofold: 1) to have ready access to patient contact information for upcoming research studies, and 2) to have ready access to clinical data for research studies. In some cases, you could be contacted for possible recruitment into research studies, or investigators may simply wish to study your clinical information without the need to contact you. Use of Registry Data If you choose to participate in the APBD registry, you will enter data about yourself into a secure web site. The information you enter will be stored in a computerized database indefinitely, unless you withdraw from the study and request that the data be deleted. Also, the staff responsible for the technical maintenance of the database will have access to your data while performing their duties, although they are all trained to protect your confidentiality. If you agree to submit contact information, that information may be used by approved staff at Columbia University to contact you. No one outside of approved staff at Columbia University will have access to any identifying information about you. If you decline to be contacted but agree to allow contact with your doctor, approved staff at Columbia University may contact your doctor, but will not approach you directly. Clinical data about you, without any identifying information, will be given to the APBD Research Foundation, who may in turn give the data to approved researchers. How Do I Participate in the Registry? Participating in the APBD registry requires creating an account for the registry web site, with a unique user name and password. This user name can be anything you choose, it doesn’t have to have anything to do with your name, your email address or anything else. You will then enter data about yourself into the web site. The web site will ask for three kinds of information: contact information, basic medical information, and detailed clinical information. You can enter as much or as little data as you like. If you agree to provide detailed clinical information about yourself, you can download a form to give to your doctor to complete. You can then enter the information your doctor provides into the web site, or if the form was completed electronically, you can upload the completed form. Data you enter into the web site will remain within the registry until and unless you request that it is withdrawn or the project is concluded. You can always have access to your own data via the registry web site. We request that you use the web site to update your data with new contact information, change of name, or important medical information.

Alternatives

You may choose not to participate in this project by: 1) not participating in the registry 2) not allowing us to provide your contact information to the APBD Research Foundation.

Risks

Risks of participating in the APBD registry include the possibility of loss of confidentiality. Loss of confidentiality includes having your personal information shared with someone who is not on the study team and was not supposed to see or know about your information. However, we plan to carefully protect your personal information. Our plans for keeping your information private are described in the 'Confidentiality' section of this consent form.

Costs

There are no direct costs associated with participating in the APBD patient registry.

Benefits

You will not receive personal (direct) benefit from taking part in this research study. However, the information collected from this research may help others in the future.

Compensation

You will not receive any payment or other compensation for taking part in this study.

Confidentiality

Columbia University manages and monitors the data registry on a daily basis. Records are kept of APBD registry users, passwords, and access permissions. All medical data obtained will be stored in the general APBD registry database. Your name and contact information will be stored in a separate encrypted contact database. Only approved staff at Columbia University will have access to your name and contact information. The following individuals and/or agencies will be able to receive computerized data that was entered by you into the registry: - Authorized research personnel. This database will be available to select researchers for use in research on your condition. These researchers may be affiliated with other institutions, but they must first have approval from the APBD Research Foundation. These researchers will only receive de-identified data - that is, data which cannot be traced back to you. The following individuals and/or agencies will be able to look at any records (including consents, medical records, etc.) that are either in the database or on file with the Columbia University team (these standards are required by law for conducting medical research in the US): - Authorities from Columbia University and New York Presbyterian Hospital, including the Institutional Review Board ('IRB') - Authorities from the Office for Human Research Protections (OHRP) in the federal government’s Department of Health and Human Services

Voluntary Participation

Participating in this project is your choice. You can decide not to participate or to withdraw your participation in all or any part of this project at any time. Your choice will not affect any treatment you may receive from doctors and staff at Columbia University Medical and/or New York Presbyterian Hospital. Should you wish to discontinue participation in any aspect of this project you should either contact the principal investigator, who will have your study data destroyed, or you can delete your account from the study web site, which will also cause your study data to be deleted.

Questions

If you have any questions while taking part in this research study, you may contact the Principal Investigator (contact information above) If you have any questions about your rights as a research subject, you should contact the Columbia University Institutional Review Board by phone at (212) 305-5883 or by email at irboffice@columbia.edu. More information about taking part in a research study can be found on the Columbia University IRB website at: http://www.cumc.columbia.edu/dept/irb.

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