Alström Syndrome International Represented at Precision Medicine Summit with President Obama


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Alström Syndrome International
Represented at Precision Medicine Summit with
President Obama

Washington, DC (February 25, 2016) – Alström Syndrome International, a member of the Community Engaged Network for All (CENA), is represented at the Precision Medicine Initiative Summit being hosted by President Obama today!  Amidst several other ‘health data flow’ announcements, Sharon Terry, CENA Principal Investigator, will announce that the Patient Powered Research Networks (PPRN) of the National Patient-Centered Clinical Research Network (PCORnet) will prioritize patient access to electronic health record data in order to let it flow into research studies. CENA, of which Alström Syndrome International is a founding member, is a Patient-Powered Research Network, and, as such, is changing the culture of medical research by involving participants, their families, and all stakeholders in all phases of research. Alström Syndrome International is thrilled to be involved in helping people more readily obtain their health information in order to advance research.

CENA is novel in that it is a collaborative effort of 10 disease advocacy organizations, the University of California, San Francisco, the University of California, Davis and Private Access. CENA utilizes the Platform for Engaging Everyone Responsibly (PEER) built by Private Access and Genetic Alliance to enable individuals to share their health information according to their personal data access and privacy preferences. In the case of Alström Syndrome International, this resulted in the creation of ARC (Alström Research Connect and family exchange), an amazing opportunity for patients and families to both contribute to and participate in Alström-specific disease research.


To create a more robust network, all the PPRNs have pledged to help participants access their health data and to make it available for research. This greatly enhances the quality, sensitivity, and power of the available research data. “I am delighted to see these data flow! The goal for CENA is to empower people to ask for their health data from healthcare providers and receive it in the easiest and most useful way,” said Sharon Terry, who also serves as CEO of PXE International, a fellow rare-disease advocacy group. Terry is also a member of the Precision Medicine Initiative Cohort Program Advisory Panel.

“Patient health data, combined with information from self-reported data and other sources, will be critical in understanding health outcomes for millions of Americans,” Terry added.


About Alström Syndrome International

Alström Syndrome International (ASI) was founded in 1995 to promote research and support of individuals affected by Alström Syndrome.  ASI works on behalf of individuals and their families to improve quality of life through advancing research, educating clinicians and supporting individuals. ASI is the prime force in conducting basic and clinical research and providing financial support for applied translational research, product development, and treatment development for Alström Syndrome. It also serves as the steward for the intellectual property to equitably advance products and services around the world for the individuals and families living with Alström Syndrome.  Visit:

About CENA

CENA is part of PCORnet, the National Patient-Centered Clinical Research Network, an innovative initiative of the Patient-Centered Outcomes Research Institute (PCORI). Genetic Alliance leads this project, which is a collaborative of ten disease advocacy organizations, the University of California San Francisco, the University of California Davis, and Private Access. For more information about CENA please visit:

About Platform for Engaging Everyone Responsibly

Platform for Engaging Everyone Responsibly (PEER) is the world’s first participant-controlled, cross-condition health registry. From the ground up, PEER is based on the principle that genuinely engaging individuals in medical research demands giving individuals (or their legally authorized representatives) the power to decide for themselves how, and with whom, they wish to share their health information. For more information:




For those of you coming to the ASI Conference in May, and also for those who can not come.. YES, WE WILL HAVE OUR TRADITIONAL INTERNATIONAL SILENT AUCTION!

If you would like to contribute, please bring (or send) an item for the auction from your country or state. It is particularly fun to see and bid on things from all over the world – all while helping ASI.



The first Alstrom Syndrome Multidisciplinary Clinic was held this weekend at Greater Baltimore Medical Center, in Baltimore Maryland. Organized by Dr. Clair Francomano Director of the Harvey Institute of Medical Genetics, the Clinic “kick off” included five adults with Alstrom Syndrome and seven physicians. Now that our first clinic has been a great success, we hope to hold future clinics for young adults and pediatric patients, and ultimately establish an Alstrom Syndrome Center of Excellence!
Concurrently, during the weekend, we held the first meeting of the Stakeholder Steering Committee (SSC) as part of our recent PCORI Award. The SSC consists of 3 adults with Alstrom Syndrome, 3 parents, 3 physicians, and 3 researchers. The purpose of this inaugural meeting was to consider plans for the full engagement of the entire Alstrom Community at the international conference in May in Plymouth Mass. to develop stakeholder-centered priorities for research. brit-alex Callie-Alex DD-callie katie-cassie parents rod-alex-jdm shannon three amigos


Alstrom Syndrome International was recently selected for the highly competitive Eugene Washington PCORI Engagement Funding Award. We will use the opportunity of the ASI Family Conference in May 2016 to begin involving individuals with Alstrom Syndrome, family members, and other stakeholders meaningfully in sharing and discussing what is important to YOU!
The healthcare research process has traditionally included only scientists and other research-related professionals. ASI strongly believes in the importance of the engagement of nontraditional stakeholders— patients, caregivers, clinicians, and other stakeholders. From topic selection through design and conduct of research to dissemination of results—we can influence research to be more patient-centered, open, and useful, and ultimately lead to greater use of research results by patients and the broader healthcare community.
We will begin the process now with the goal of eventually bringing to the ASI Family Conference topics that YOU indicate are important for your life. You will be hearing more about this as the conference draws near, beginning with a short survey about potential topics of discussion. More information about The Eugene Washington PCORI Engagement Funding Award can be found at
We have invited a small group of people with Alstrom Syndrome, Parents, Clinicians, and Research Scientists to form a Stakeholders Steering Committee to help guide the process from beginning to end. However, we need EVERYONE’S involvement and opinions! This engagement process will definitely continue after the conference, as we don’t expect that everyone who has some input to give will be there, and we want to give opportunities for all to participate. We also want people to have a chance to think about and digest what we come up with, and to give further input by whatever style best suits them. As you well know, it is normal and natural for the Alström community to always be engaged. It’s just that now we intend it more systematically and with larger goals in mind. Rather than simply imagining what’s important, or having “experts” decide next steps in isolation, we—the SSC with PCOR’s support—are creating an opportunity to break out of this “top-down” decision-making model and foster a shared responsibility for health between everyone who is involved with Alström Syndrome: affected persons, parents, care-givers, clinicians and researchers alike. “
Don’t hold back – this is a great opportunity to shape the direction of Alstrom Research, Education and Support! We are looking forward to getting started!

Frequently Asked Questions about the ARC Registry



Alstrom Research Connect FAQs
1. How do I participate if I have low vision and use a screen reader?
You can enlist the assistance of a family member or friend to go through the process of setting up your account and your privacy settings.  You can also contact Alstrom Syndrome International ( ) and we will set up the account for you and you can then access the survey and control your privacy settings using your screen reader software.
2. Why do I have to give an email address to get a code to proceed with the Registry?
The only piece of information sought before consent is an email address, and the use of this information is covered by the Privacy Policy. The email address is employed solely to confirm that the user is in control of the account. This is actually one protection that is employed to reduce the chance that someone is merely contending that they are someone else since it confirms that the user is at least in control of the email account that he or she is using.
3. What is the security level of the servers and how is the data encrypted?  Who can access to my data and how?
Genetic Alliance’s PEER (Platform for Engaging Everyone Responsibly) – which provides the basis for the ARC registry – enables individuals to make their own health information available for researchers and support groups, in accordance with each individual’s highly granular permissions. Using PEER’s access controls, for example, one participant can say that absolutely no one has any rights to access any of their information (including de-identified data and/or identifying information), while another participant can say that all of her information is available to anyone who falls within a category of users who either have IRB approval or who have been approved by a trusted organization. The system assumes that most persons will not be at one extreme or the other, but instead will have different attitudes about how much, and how broadly that he or she wishes to share information, and that this will be dictated based on the type of information (i.e., de-identified or personally identifying), the levels of trust in the proposed recipient or the process by which they are selected, and the purpose for which the information may be sought. Accordingly, the system provides highly granular and dynamic access controls to empower individuals with this level of oversight, and has a strict Privacy Policy that indicates that the only access to the data will be based on the express wishes of the individual themselves.

The Genetic Alliance BioTrust Ethics Board and various Institutional Review Boards (discussed below) that have reviewed the PEER system have helped to establish a number of categories for access options that individuals may wish to consider. Depending on how individual users employ these tools, they may Grant (Allow), Deny (Decline to allow), or set a control called “Ask Me” that requires that the individual participant be consulted further, and provided with greater details about the intended use and the party seeking such access before deciding whether to allow or deny access. By using the controls, it is possible for individuals to restrict access to their information to a single researcher; just to researchers approved by the Medical Advisory Board of ASI; to researchers approved by the advisory board of other support organizations; to IRB-approved researchers working on a study that addresses one or more of the conditions affecting the individual; or to all researchers with IRB approval.
4. Can individuals or users can conduct their own studies using the data?
Yes, subject to the individuals’ right to determine who can access and use their respective information, this is possible. It is also consistent with the philosophy of the Patient-Centered Outcomes Research Institute (PCORI) initiative, of which this initiative is a part, as well as of Genetic Alliance, who is the Principal Investigator thereunder. Our collective hope is that we will be able to advance science by giving patients greater control over who can access and use their information that we will help make it possible for anyone who has a worthwhile idea that may assist the community, and who is willing to abide by responsible practices. This is also something on which we are working with UCSF (one of two academic medical center partners under the PCORI project initiative), and with whom we plan to test various UCSF tools they think may be useful in letting patients have a greater voice in devising studies of potential relevance.
5. Is there an IRB approval and if so by what board?
Yes. Actually there are several. The overall PEER Platform was reviewed and approved by Western Institutional Review Board (WIRB) in June 2014. The WIRB approval is explicitly referenced in a Prospective Participant Informational Notice that accompanies the confirmation email that is sent to anyone expressing possible interest in the registry. In addition to WIRB, the Genetic Alliance IRB has reviewed the ARC questionnaire instrument and materials, as well as other details. The BioTrust Ethics Committee of the Genetic Alliance is also actively overseeing this work, and has been instrumental in creating the PEER platform and its approach for empowering individuals to set granular and dynamic access levels.
6. How does one delete their account from the Registry?
One simply needs to click on the “Remove” button associated with a health profile. Alternatively, since the access controls are dynamic in nature, another option that is available to all users at all times is the ability to reduce who is permitted to access information in the registry and/or for what purpose such access may be used.
7. Who are the financial sponsors of the registry?
The ARC registry has been built under a grant from PCORI. ASI is one of nine disease advocacy groups participating in this project, along with UCSF and UC Davis, and Private Access, a technology vendor. Sharon Terry, the CEO of Genetic Alliance serves as the Principal Investigator.
8.Where can I find the Privacy policy and security guidelines on the Registry site?
Most of these are available by clicking on the public links to Privacy Policy or Terms of Service located in the bottom right hand corner of the Registry home page and accessible from every page of the system.

Alstrom Research Connect launches today!!

ARC logo

At last, the Alstrom Research Connect and Family Exchange has launched!  Find out more about this patient-centered registry that will enable researchers as well as other families to learn more about the syndrome as they work towards a cure.  You control your information!  YOU can drive research forward!  Sign up today!!

To enter the ARC Registry, click HERE
For additional information about ARC, click HERE