General Questions

 

What is the purpose of SDS GPS? 

The SDS-GPS Program stands for Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program. It was launched in 2023 by the Shwachman-Diamond Syndrome Alliance, Inc. - a patient-centric research-focused nonprofit organization based in the US, serving the global SDS community - in order to enable and accelerate the development of therapies and cures for Shwachman-Diamond Syndrome (SDS) and related disorders and optimize care. 

 

How will this Program contribute to research?

The purpose of the SDS-GPS Program is to enable and accelerate therapy development and disease understanding by

• Collecting standardized data through validated surveys, medical records, and other means, in a consistent way and from as many individuals as possible. This is essential for (ultra-)rare diseases like SDS to enable progress. The Program is aimed at enabling the development of patient-reported outcome measures (PROs) and real-world evidence (RWE) through the collection and analysis of real-world data (RWD). 

• Incorporating the patient voice into all aspects of the research and therapy development continuum. One important tool to capture the patients’ voice and to support the development of patient-centric priorities is the use of surveys to assess the needs of the SDS and related disorder communities.

• Making data available to any researcher who wants to better understand SDS, related disorders, community needs, and work toward improved care and novel therapies. We want as many scientists as possible around the world working on SDS and related disorders toward therapies and cures.

• Developing a database of people who may be interested in participating in future studies, including clinical trials, with all the necessary information about them already in place. We encourage all patients to consider participating in any registry or study available to them. 

• Driving collaborations between all stakeholders, including patients, registries, researchers, clinicians, and regulators. We are leading the way by building collaboration opportunities and data sharing frameworks into all our programs.

 

Who can join SDS GPS?

The Program invites patients of all ages who have a confirmed diagnosis of the below, using established diagnostic guidelines, plus their parents/caregivers. 

1. Patients with a confirmed Shwachman-Diamond Syndrome (SDS) diagnosis, including a genetic or clinical diagnosis.  The initial focus will be on patients with a genetic diagnosis of SDS based on biallelic mutations in SBDS or EFL1.

2. Patients with a confirmed diagnosis of an SDS-like syndrome (e.g. due to mutations in DNAJC21, SRP54, or other genes that may be associated with an SDS-like syndrome in the future).

3. Patients with other heritable hematological malignancy disorders  (such as RUNX1-FPD, Fanconi Anemia) and/or congenital neutropenias  (such as ELANE neutropenia) are also eligible for inclusion. 

4. Caregivers, parents, and close relatives of all patients above, including of patients alive or deceased.

 

What are the benefits of joining SDS GPS? 

There may be no direct benefit to the participants associated with participation in the SDS-GPS Program. However, by giving approval for their de-identified data and samples to be shared for research purposes, their valuable contributions have the best chance to be used as effectively as possible for research not only today but also in the future as new research questions and technologies emerge. 

Furthermore, by providing your contact information and agreeing to be re-contacted by the SDS-GPS program, participants will be able to receive the most relevant information about their disorder, support services and connections, educational resources, information about relevant clinical trials, and access tools to store and manage their own health records and information.​

 

Are there any risks to participating in the Program? Could it cause any harm to me?

Participation in the SDS-GPS Program presents minimal risks to its participants. The risks are related to privacy. There are no risks of physical harm associated with participation in the SDS-GPS Program.

Participation in the SDS-GPS Program does involve the potential risks of a breach of confidentiality of medical information and the associated privacy of the participants. 

 

Is this a clinical trial? Or a registry? Or both?

In some sense, both. The SDS-GPS Program is a patient-powered “registry”. The main difference between registry studies and clinical studies or trials is that registry studies are observational (passively observing the natural history or normal progression of the disease, untreated or using current standards of care) whereas clinical studies are investigational (investigators are instructed to treat the condition in a certain way, and then outcomes are measured).

The Program will apply to be registered on ClinicalTrails.gov.

 

Is the SDS-GPS Program a registry? What is a registry?

Yes, the SDS-GPS Program could be considered a patient-powered registry, but it is much more than that. In addition to collecting patient data, it is focused to share the data, build collaboration, and empower patients by providing them access to their data and modern tools to manage their data.

According to Workman at all, “Patient registries have been defined as “an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves a predetermined scientific, clinical, or policy purpose(s).” In brief, a patient registry is a collection—for one or more purposes—of standardized information about a group of patients who share a condition or experience.”

 

Which languages are supported?

The SDS-GPS Program platform hosted by Matrix is available in several languages, including English, Spanish, German, Italian, and French. Most surveys administered on the platform are also available in several languages. We are striving to add more languages based on the needs of the community and capacity.

 

Why is patient-reported data so important?

[Coming soon: Links to articles from the FDA and other authorities; and explanations of important terms such as RWD and RWE, PROs and PROMS]

​

Who is sponsoring this Program? Are there any third parties involved? 

The initial design and implementation of the Program, as well as annual maintenance, will be funded by the Shwachman-Diamond Syndrome Alliance (“SDS Alliance”) - the Sponsor.

In order to maximize the impact of the participant’s data and efforts, we invite and encourage researchers from other organizations and companies to apply for and access certain sets of data. The SDS Alliance may get paid by some of these partners and will use the proceeds to sustain and grow the SDS-GPS Program and other programs to benefit the SDS community.

 

What’s involved in participation?
How can I get started?

 

What will I need to do in order to participate?

Participants will need to follow the following steps to participate in the Program:

1. Setting up an account on the SDS-GPS Program platform, which can be done by a caregiver or patient.

2. Adding participants (which can be patients, parents, caregivers, or close relatives)

3. Providing informed consent (IRB approved) for each participant (online on the Program platform) including options to agree to be re-contacted

4. Adding contact and demographic information about each participant(s)

5. Uploading the genetics report of the participant(s), if available

6. Answering surveys (about the participant’s physical and mental health, quality of life measures, the burden of disease, community needs assessment, and other aspects of SDS and related disorders) that are available in the participant’s account on the Program platform. Most of the surveys need to be answered on an annual basis or more, in order to track changes to their experience over time. The Program platform or team may send reminders to update surveys and other information.

Participants may also have the opportunity to contribute 

1. additional types of data, such as connecting their electronic health records (EHR), answering interview questions, allowing their healthcare provider to add health information on their behalf, uploading additional test results and lab measurements, connecting metrics from devices, and new technologies yet to be developed. 

2. data associated with samples for biobanking and research. Sample collection and banking are governed under separate protocols and IRB.

 

What is an Informed Consent?

Informed Consent is a process in which patients and research participants are given important information, including possible risks and benefits, about a medical procedure or treatment, genetic testing, a clinical trial, or studies, registries, and data collection programs. This is to help them decide if they want to participate. Patients are also given any new information that might affect their decision to continue.

 

Who should provide informed consent on behalf of the participant?

• Any individual 18 or older who is diagnosed with Shwachman-Diamond Syndrome (SDS) or related disorders who is able to understand this consent form and wants to participate in this program should consent on their own behalf. 

• A parent or guardian may enroll a child who is under the age of 18. Please see ascent instructions in the next paragraph. The SDS-GPS program team will contact each participant who was enrolled as a child, upon reaching 18 years of age, explain the purpose of the program, and seek their consent to continue their participation.

• A Legally Authorized Representative (LAR) may enroll an adult over the age of 18 who is unable to consent. Please see ascent instructions in the next paragraph.

• Family members or caregivers of a patient who has passed away can also participate and provide information about the deceased patient. No formal Informed Consent is necessary, but the information presented here may be still helpful for understanding the Program.

 

What is a genetic report?  Why are you asking for it?

[Coming soon:  Details about what a genetics report is.]

Genetic confirmation of your diagnosis is very important for both optimizing your own healthcare and also for research. Without it, researchers cannot determine whether a specific gene or mutation is responsible for the symptoms you experience. Please upload it to the SDS-GPS Program platform when prompted. As with all personal information, it will be protected with utmost care.

 

What if I don’t have a genetics report?

• If you have received genetic testing for SDS and/or related disorders but don’t have access to a copy, please check with your healthcare provider or testing company on how to access it. We may be able to help with the process of obtaining a copy on your behalf with specific paperwork. Please contact us at GPS@SDSAlliance.org  for assistance.

• If you don’t have access to genetic testing, we may be able to assist! We can connect you to experienced doctors and no-cost testing options almost anywhere in the world. We can aslo provide information on testing strategies and interpretation to your physician or connect them with local experts. Please contact us at GPS@SDSAlliance.org  for assistance.

 

Will be able to view or change my responses after completing a survey? 

Yes! The system will keep track of changes in order to comply with data collection standards. Additionally, most of the surveys need to be answered on an annual basis or more, in order to track changes to participants’ experience over time. The Program platform or team may send reminders to update surveys and other information.

 

Is there any cost associated with participation? Is it Free?

The SDS-GPS Program platform (application) is FREE to use for participants, as the cost is covered by the SDS Alliance (sponsor). However, the application utilizes participant’s cell phone, tablet, or computer, and will utilize their data/internet connection. The application will send notifications and reminders. There may be fees for text messages and data usage as per your plan with your cell phone or internet provider. To facilitate participation by underserved communities, the SDS Alliance may occasionally offer financial assistance to overcome such barriers.

 

Do you provide any incentive for participation?

Participants will not be paid for their data. Occasionally, we may offer participants a gift card or other small compensation for their time and effort involved in participation, such as completing certain surveys. If compensation is available, we will tell them the details prior to the start of the activity.

The use of data may result in commercial profit, such as a product, material, or process. Participants will not share in any commercial value or profit derived from the use of their data nor will they have special access to any products or therapies created. 

 

Will survey results be shared back with me? 

Yes. We will share results in many different ways.

Participants will be able to see how their survey answers compare to other participants for certain questions, once sufficient participants have filled out the surveys. This is a built-in feature of the Program platform.

To promote the use of the SDS-GPS Program and data, aggregate, de-identified data will be collated at least annually and made available to the public through various means, such as the SDA Alliance or Progam website, newsletter, email or mail, conferences, webinars, social media, or publications. Such information may include data in aggregate of a group of participants, instead of patient-level data, such as the number of participants, the prevalence of individual common diagnoses, demographic information, and level of engagement. 

 

Data and Privacy

 

Who will be able to view my information? 

The following are groups with whom your Program team may share your de-identified data and samples to support research and therapy development. All these entities will have oversight committees (such as an IRB) that will supervise the ethical use of the data and samples and protect the participants.

1. Health authorities throughout the world (e.g., U.S. Food and Drug Administration (FDA), European Medicines Agency (EMA), and other governing bodies that review clinical trials).

2. Institutional Review Boards (IRB) that oversee and review the ethics of the research.

3. The program sponsor (SDS Alliance) and those working for or with the sponsor, which may include affiliates of the sponsor located in your country or other countries.

4. Other groups: Examples of which include academic, government, or industry researchers; public-private partnerships; and/or external research collaborations.

5. Programs and platforms to facilitate the sharing of de-identified data and combining multiple datasets, such as the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP), European Rare Disease Registry Infrastructure (ERDRI), or Terra by the Broad Institute.

 

Is my information secure? 

The SDS-GPS Program data will be stored on secure servers located in the United States of America (U.S.). Data entry may be performed anywhere in the world via web interface. 

For persons living outside the U.S. who choose to share information about themselves, the same protections for privacy and confidentiality are offered as in the U.S. Privacy laws in other countries, such as General Data Protection Regulation (GDPR), may have different protections than those provided in the U.S. Participants’ data may be transferred to the U.S. (e.g. to servers physically located in the U.S.). 

Participants’ privacy and confidentiality will be safeguarded by using modern database management techniques and informed consent.  As part of consent, participants will have the ability to state whether future re-contact is acceptable. SDS-GPS Program staff may contact participants to clarify data entry.  

Confidentiality will be protected by limiting access to data and keeping Protected Health Information (PHI) password protected on a secure server.  Privacy and confidentiality risks will be minimized by the following means:

• Access to PHI in the database will be limited to as few SDS-GPS Program team members as possible. 

• All team members with access to PHI will have to go through CITI or similar training on how to protect PHI. 

• Participants will be assigned a unique patient identification number or will be asked to provide a research ID they may have received from a third party (such as the Clinical Research ID (CRID)). Any data that is shared will be labeled with this unique identifier instead of participants’ PHI, such as their name, picture or any other identifying information.

• PHI and other data are kept safe using the highest encryption standard available and protected via password-protected and encryption security measures.

 

Do I have to participate in this program? If I chose to participate, can I change my mind and withdraw later?

Participation in the SDS-GPS Program is voluntary. Participants are free to withdraw at any time, for any reason. To withdraw, they will need to contact the SDS-GPS Program team by email at GPS@SDSAlliance.org. Refusing to participate will involve no penalty or loss of benefits to which one is otherwise entitled. Participants have the right to ask that we delete their personal information. If we still have their personal identifiers (PHI), we will delete them to the extent possible and unlink their data from any information that could identify them. De-identified information no longer connected to PHI cannot be identified and won’t be deleted. De-identified information that has already been shared with researchers or groups cannot be retrieved or removed. 

 

Who will information from the Program be shared with, and how?

 

Identified Data

Identified data, including PHI, is protected and won’t be shared outside the SDS-GPS Program.

 

De-identified data

For de-identified data, there are several types of data access and dissemination options.

• Aggregate Data. Such information may include the number of participants, the prevalence of individual common diagnoses, demographic information, and percent willingness to be re-contacted for future research. 

• De-identified, Patient-level Data. De-identified data is available for researchers to use in statistical analysis for pre-clinical explorations, publications, presentations, grant preparations, and more. Researchers can apply for access via an application form. All applications will be reviewed by the Data Access Committee.

• Support in identifying and recruiting patients for clinical trials and other research studies. Request will be reviewed by the Data Access Committee. IRB approved recruitment material will be distributed by the SDS-GPS Program team. No patient list will be shared with third parties.

 

Investigators wanting to use the SDS-GPS Program data need to apply to the Data Access Committee. The Committee is composed of the Program Principal Investigator, patient representative, and members with scientific, medical, legal and/or ethical expertise. It ensures that the request for data use aligns with the purposes of the Program and its policy.  

The application requires providing the following information through an online form or by email to the Program team at GPS@SDSAlliance.org:

• Principal Investigator (Name, contact information, and CV)

• Aims and hypotheses of the proposed research

• Where an how the research will be performed

• How the research will be funded

• How the results will be published and/or shared, and 

• What type of data access is requested

A data transfer agreement will be distributed ahead of the data, specifying the agreed-upon scope of research to be performed and specifying that no attempt may be made to identify the SDS-GPS Program participants.

 

Can medical professionals view my information? 

Participants have the option to access and share their own data in the SDS-GPS Program Platform. 

 

Other than participating in the Program, how else can I use the Program Platform (Matrix)?

• use it as a personal health monitoring tool

• utilize tools and features that make managing daily care easier

• share health information easily with others

Symptoms and Activities Tracker

• track symptoms and activities on the platform, including energy levels, pain, illnesses, medication or diet changes, doctor or therapy appointments, and more!

• use an existing favorites list or create your own symptoms and activities list to track those that are meaningful and important to you

• graphs can be created with multiple activities and symptoms to look for patterns and possible correlations

 

Medications Tracker

• log medications, dosages, and refill dates

• text and email notifications for medication administration and refill reminders

 

Important Document Storage and Organization

• upload your documents for easy organization and access - medical records, IEP’s, evaluations, medication lists, physician contact lists, guardianship, etc.

• documents can be shared as PDF files with healthcare providers, other caregivers, and anyone you'd like to have them

 

Journals

• keep notes and written narratives of important information such as changes in eating or sleep, unusual behaviors, parent-teacher interactions, or any other things you want to remember

• keep a list of questions for the next doctor's appointment

 

Resource Center

• find important documents, forms, and information from the SDS Alliance and other peer-reviewed guidelines and resources to help with your Program participation or make day-to-day life and care easier

• find announcements and details about clinical trial opportunities

 

Sharing Center

• download and share any information you've entered into Matrix (your own personal health data) with anyone you'd like, such as your healthcare providers, school nurses, care providers, etc...

 

Message Center

• two-way communication with the SDS Alliance related to the SDS-GPS Program

• a safe, secure, and private way to share information and questions

 

How can I support the SDS-GPS Program?

The SDS-GPS program is sponsored by the Shwachman-Diamond Syndrome Alliance (SDS Alliance) through grants, major donors, in-kind donations of expertise and time, and grassroots efforts. Financial support is always deeply appreciated, as SDS is a rare disease and commercial benefits are limited. 

Patients and their families donate their data to the program by participating, filling out surveys, and providing other data. The Program critically depends on your support and participation. Thank you!