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Frequently Asked Questions

SPS Global Registry

Thank you for your interest in the SPS Global Registry. Please see below some frequently asked questions. If you have additional questions that are not listed, please contact us!

1. What is a Patient Registry?

A patient registry is a collection of standardized information about a group of patients who share a condition. The information may be used for a variety of purposes such as conducting natural history studies and supporting disease specific clinical trial recruitment.

2. What are the Objectives of the SPS Global Registry?

The primary objective of the SPS Global Registry is to conduct a natural history study (NHS) aimed at understanding the progression and overall course of Stiff Person Syndrome (SPS). By gathering detailed data, the Registry seeks to characterize patients with SPS, documenting their symptoms and identifying common patterns. This initiative also aims to provide critical insights into the patient burden of SPS, including its impact on quality of life and the long, often difficult diagnostic journey faced by those with the condition. Additionally, the Registry will collect valuable information on therapeutic interventions and their outcomes, helping to shape future treatment approaches.
Beyond these goals, the SPS Global Registry will serve as a critical resource by establishing a pool of patients diagnosed with SPS (includes SPS spectrum disorders) who may be eligible to participate in ongoing and future research. An integral component of this effort is the creation of a biorepository linked to the Registry, which will advance research by providing biological samples for study. Moreover, by encouraging international collaboration, the Registry will foster partnerships and promote global efforts to advance SPS research, ultimately striving to improve patient care and outcomes.

3. What is a Natural History Study?

A natural history study is a longitudinal study designed to track the course of a disease over time. It includes people who have a specific medical condition or disease. It may also include those who are at risk of developing the condition/disease. This type of research identifies demographic, genetic, environmental and other information that may be common within the disease and its outcomes. A natural history study can also show the differences in symptoms and changes over time that are seen in different people with the same disease. Natural history studies often aim to find unknown similarities within the disease population. They have many potential uses such as patient care best practice development and clinical trial recruitment. Data for natural history studies are often collected via patient registries.

4. Who oversees the SPS Global Registry?

The Stiff Person Syndrome Research Foundation (SPSRF) is the Registry’s research study sponsor and is responsible for overseeing the SPS Global Registry.

5. What is a Research Study Sponsor?

A Research Study Sponsor is an individual, company, institution, or organization. They are responsible for:

  • Choosing appropriately trained and experienced researchers to conduct the research study;
  • Initiating and managing the research study;
  • Ensuring funding for the research study;
  • Ensuring that the research study is conducted in a reputable, ethical manner and upholding regulations as they apply to the study; and
  • Maintaining regulatory compliance and selecting an Institutional Review Board (IRB) that will oversee the conduct of the study.

6. What is a Principal Investigator?

The Principal Investigator (PI) is the person with the primary responsibility for the design and conduct of the research project or study. The PI is responsible for oversight of all aspects pertaining to the conduct of the Registry, its staff and the research on the data contained within.

7. Who is the Principal Investigator (PI) for the SPS Global Registry?

Dr. Tara Zier (the Founder and CEO of The SPSRF) is the PI. As noted by NORD (National Organization for Rare Disorders) “in nonprofit-sponsored registries, especially those focused on rare diseases, it is common for the Executive Director (ED) or CEO of the sponsoring organization to be named PI. In registries, the PI acts as the operational and ethical steward of the program. In assigning Dr. Zier as the PI it enables stronger alignment with The SPSRF’s goals, ensures greater flexibility in partnerships, and minimizes institutional barriers that could delay research. This model supports a balance of operational stewardship, ethical compliance, and patient-centered governance, critical elements in any successful registry initiative.”

8. Who is NORD – the National Organization for Rare Disorders, Inc.?

NORD, an independent nonprofit, is leading the fight to improve the lives of rare disease patients and families. We do this by supporting the rare community, its people, and organizations. We work together to accelerate research, raise awareness, provide valuable information, and drive public policy that benefits the estimated 25-30 million Americans impacted by rare diseases. Learn more about NORD at https://rarediseases.org/.

9. What is a Registry Steering Committee?

A Registry Steering Committee is a group of experts that includes patients, caregivers, clinicians, researchers, and data specialists who advise the sponsor on developing, implementing, and managing the Registry.

10. Who is on the SPS Global Registry research team?

The SPS Global Registry team consists of 3 Principal Investigators (Tara Zier, Dr. Scott Newsome and Dr. Amanda Piquet), a Registry Manager and qualified and trained volunteers, including a researcher, and a primary care physician.

11. What training is the Registry research team required to take?

Members of the Registry research are required by an IRB (Institutional Review Board) to take Good Clinical Practice (GCP) training. ‘The principles of Good GCP help assure the safety, integrity, and quality of clinical trials by addressing elements related to the design, conduct, and reporting of clinical trials. GCP training describes the responsibilities of investigators, sponsors, monitors, and IRBs in the conduct of clinical trials. GCP training aims to ensure that:
  • the rights, safety, and well-being of human subjects are protected
  • clinical trials are conducted in accordance with approved plans with rigor and integrity
  • data derived from clinical trials are reliable.’1

12. What is an Institutional Review Board (IRB)?

An IRB is a board formally designated by an institution or investigator to review, approve the initiation of, and conduct periodic review of research involving people. The primary purpose of such an assessment is to ensure the protection of the rights and welfare of the participants in the study. This is also known as an Ethics Committee (EC) or Research Ethics Board (REB in Canada).

13. Who can join the study?

This study is open to participants who have a confirmed diagnosis of SPS (includes SPS spectrum disorders) by a physician, including those who have passed away. A confirmed diagnosis consists of clear documentation in a patient’s medical records, such as a progress note, stating the patient has an SPS diagnosis. This documentation will need to be uploaded into the Registry.

14. Who is a Study Participant?

A Study Participant is the individual about whom information is entered into the Registry. In the case of an independent person of legal age, this individual will consent for and enter information about themself. If an individual is not of legal age or is an adult who requires someone to act on their behalf, a person (Caregiver/LAR, see below) who is legally responsible for their health care will provide consent and enter information about the Study Participant.

15. Who is a Study Partner?

A Study Partner is a close relative or trusted friend who can assist the Study Participant, who is able to consent and answer questions for themself, in completing the surveys when they need help due to SPS related symptoms or other medical conditions. Their role as a Study Partner is to read the surveys to the Study Participant and enter their responses into the surveys exactly as directed by them. Using this assistance may add additional risk of exposure of your personal information to the person physically entering data for you, and a risk that the data you relay may be entered incorrectly.

16. What is a Legally Authorized Representative (LAR)?

An LAR is someone who is authorized under applicable law to consent and enter data in the registry on behalf of another individual. The LAR may be a parent, grandparent, spouse, caregiver, or guardian as long as they have the legal authority to grant consent on behalf of that individual. An LAR will sign up on the IAMRARE platform with a Caregiver account. When an LAR acts on behalf of a study participant, they are considered to be the reporter in the research.

17. What is a Designated Representative?

A Designated Representative is a legal adult who was the caretaker of an individual with SPS who passed away. This may be a spouse, parent, sibling, offspring, close relative, close friend, guardian and/or significant other of this individual. This person must have had knowledge of and participated in the deceased's medical care. These individuals are permitted to enter retrospective data on their behalf.

18. What is the Process of Participation?

There are 5 steps to participate in the SPS Global Registry:
  1. Register by creating an account
  2. Review and sign the informed consent
  3. Select any “Opt-ins” of interest
  4. Complete the registry surveys for the first time
  5. Update the registry surveys

19. What is an Informed Consent Form (ICF)?

An ICF is a document that provides potential participants with key information about the Registry. This document helps potential participants to make an informed decision whether to join or not. Information will include topics such as: the risks and benefits of the research project, use of data, and participant privacy. If they choose to join the study, participants are required to electronically sign the ICF. This indicates that they agree to the terms as described before entering data into the Registry or responding to surveys.

20. What are Opt-ins?

Opt-ins are a list of opportunities participants can tick off if they would like to participate in them. They will be presented to participants after completing the informed consent and currently are:
  • Interest in learning more about The Stiff Person Syndrome Research Foundation.
  • Interest in signing up for The Stiff Person Syndrome Research Foundation newsletter.
  • If eligible, I have interest in receiving The Stiff Person Syndrome Research Foundation merchandise that would be sent via electronic or postal mail.
  • Interest in learning about upcoming events such as webinars and conferences.
  • Interest in support services offered from The Stiff Person Syndrome Research Foundation.
  • Interest in learning ways to support The Stiff Person Syndrome Research Foundation.

21. Is there a cost to participate?

There is no cost to participate in the Registry.

22. How long will it take participants to complete the Registry surveys?

There are 12 longitudinal registry surveys grouped in topics that will be rolled out in 5 phases as outlined below. Each survey varies in the amount of time it will take a participant to complete. The estimated amount of time will be noted in the survey introductions. To track the course of SPS, participants will be asked to retake the surveys at either 6 or 12 months intervals. Phase 1 - Surveys
  • Eligibility Survey (retakes every 6 months)
  • Demographics (retakes every 6 months)
Phase 2 - Surveys
  • Lifestyle (retakes every 12 months)
  • Family History (retakes every 6 months)
  • Medical History (retakes every 6 months)
  • Women's Medical History (retakes every 6 months)
Phase 3 - Surveys
  • Diagnosis and testing (retakes every 6 months)
  • Research and Biorepository Studies (retakes every 6 months)
Phase 4 - Surveys
  • Symptoms (retakes every 6 months)
  • Treatments (retakes every 6 months)
  • Quality of Life (retakes every 6 months)
Phase 5 - Survey
  • Medical Uploads (can be updated anytime)

23. Do Participants need to take the surveys all at once?

No, participants do not need to take the surveys all at once. They can be saved in draft and submitted at a later time, thereby allowing participants to take a break. However, in order to support the research and quality of the data, it is advised to submit the group surveys together within 7 days to capture and study the longitudinal natural history of SPS. For instance, the symptoms, treatments and quality of life are intricately related to one another and being able to study their physiological connection is very important.

24. How do I upload my medical records?

Participants can upload the requested medical records (diagnosis and tests for diagnosis) by either uploading them from their desktop or smartphone. If the participant is using the Registry app, they can take a photo of the record which will get automatically uploaded.

25. After consenting, can I withdraw from the study?

Participants can withdraw from the study at any time. However, information already used for research before the participant changed their mind cannot be retrieved.

26. How is the data collected?

Data is collected through a secure web-based application (that can be accessed by computer, tablet or phone) designed specifically for rare diseases by the National Organization for Rare Disorders, Inc. (NORD®). Study participants respond to questions grouped within a series of surveys developed per study standards and in collaboration with disease specific experts.

27. Is the data secure?

Yes, the platform is served over HTTPS, meaning the data is encrypted when sent from the user’s browser to the NORD servers. The data is also kept encrypted in the NORD database. Communications between the registry platform application server and the database are also encrypted. As with any information you provide electronically, there is a rare chance that your privacy could be compromised. However, the Registry and the security measures minimize the possibility of this occurring.

28. Does the Registry comply with data security regulations?

Yes, The Registry follows strict government guidelines to ensure patient information is protected. It adheres to all policies and procedures mandated by the HIPAA Privacy Rule and the General Data Protection Regulation (GDPR).

29. What is HIPAA?

“HIPAA is a federal law that gives you rights over your health information and sets rules and limits on who can look at and receive your health information. The Privacy Rule applies to all forms of individuals' protected health information, whether electronic, written, or oral. The Security Rule is a Federal law that requires security for health information in electronic form.”

30. What is the GDPR?

The General Data Protection Regulation ‘is the toughest privacy and security law in the world. Though it was drafted and passed by the European Union (EU), it imposes obligations onto organizations anywhere, so long as they target or collect data related to people in the EU.’ Residents of the European Union and Switzerland have additional particular rights related to personal information. They are entitled to:
  • Request to obtain access to and rectification or erasure of personal data;
  • Receive personal data in a portable, readily-accessible format;
  • Restrict or withdraw permission for the processing of personal information; and
Lodge a complaint with an appropriate supervisory authority. This information is disclosed within the informed consent document. If an individual signs this document, they acknowledge that they are disclosing information that would otherwise be private. Note, privacy laws in an individual’s country may have different protections than those provided in the United States.

31. Where is the data stored?

The data is stored on encrypted servers and/or encrypted servers of third-party vendors hosted in Canada. Near real-time continuous backups and monthly offline backups are run. Security incidents are reported to sponsor immediately and within 3 days to the GDPR Data Protection Representative in an EU state, and within 60 days to the Office of Civil Rights (Health & Human Services). These are the current EU GDPR, UK GDPR and U.S. Health & Human Services reporting requirements. There is also a disaster recovery plan in place that is tested annually and reviewed and updated regularly.

32. Can data be collected worldwide?

The Registry uses an online platform which allows participants to contribute data from anywhere in the world. Individuals from other countries who enter data into the Registry should be aware that data and privacy laws are different in the U.S. from other countries. This U.S. based registry will protect data and privacy according to U.S. requirements.

33. Who owns the data?

The study sponsor owns the study data. The SPSRF decides how and with whom to share the data. NORD staff will have access to the data for activities related to support and maintenance of the Platform and will collect Platform-wide participation statistics. The specifics will be outlined in your informed consent.

34. Who will have access to Protected Health Information (PHI)?

All data, including those with PHI, will be stored in a password protected secure server. Access to PHI will be limited to:
  • Approved members of the SPS Global Registry research team;
  • NORD staff, in cases where technical support is needed and with the permission of registry staff; and
  • With agreement from the Sponsor, NORD may conduct IRB-approved, cross-disease research using registry data.
In all cases, your privacy will be protected.

35. Does the government have access to the Study Participant’s data?

No, the government does not have access to the Study Participant’s data. The IAMARE Platform where the data is stored is not owned by the government or one of its agencies. The SPS Global Registry is not funded by the government. The data is saved, monitored and overseen by NORD, The SPSRF and The SPS Registry Study team, all independent non-profit bodies.

36. How will the data be shared with researchers?

The SPSRF Registry Steering Committee is responsible for reviewing all requests for registry data to be sure that the proposed project has scientific merit and will be valuable to the community. Researchers will only be provided with the minimum data necessary to accomplish their research study goals. Data containing PHI will only be shared if the research cannot be done without it. The researchers will be required to sign a Confidentiality Agreement in which they agree not to share data with anyone else.

37. What is COMBINEDBrain?

COMBINEDBrain stands for Consortium for Outcomes Measures and Biomarkers in Neurodevelopmental Disorders. It is a 501(c)(3) company devoted to helping find cures for neurodevelopmental disorders. One of its projects is hosting a biorepository that has an IRB approved consent form for patients to donate samples. The samples can then be analyzed and aggregated (samples de-identified and grouped together) and the results shared with researchers to study SPS.

38. Is The SPSRF’s COMBINEDBrain Biorepository Research Initiative the same as the SPS Global Registry?

No, the 2 research initiatives are separate research projects. However, de-identified aggregated data from both initiatives can be shared by linking a GUID (Global Unique Identifier) and a CRID (Clinical Research ID), which will help to accelerate SPS research. The Registry produces a GUID for each participant and the COMBINEDBrain Initiative requires participants to create a CRID.

39. What is a GUID?

‘A customized software application generates a Global Unique Identifier (GUID) for each study participant. The GUID is a subject ID that allows researchers to share data specific to a study participant without exposing personally identifiable information (PII). The GUID is made up of random alpha-numeric characters and is NOT generated from PII/PHI.’2 Examples of GUID creation can be found via the National Institute of Health HERE.

40. What is PHI?

“PHI stands for Protected Health Information. The HIPAA Privacy Rule “defines PHI as individually identifiable health information that is transmitted or maintained in any form or medium (electronic, oral, or paper) by a covered entity or its business associates, excluding certain educational and employment records.”3

41. What is the CRID (Clinical Research ID)?

‘CRID is a service that enables patients involved in clinical research the opportunity to create their own Unique Universal ID. Patients can create their CRID (for themselves and/or families they are legally authorized to act on their behalf, such as a child) and decide which researchers to share it with. By sharing the CRID, researchers can then reuse, merge and share your research data (without using your PII/PHI). It's a free service for patients.’4

42. Do registry participants need to create a CRID?

No, as outlined in the informed consent form, registry participants do not need to create a CRID. They have the option to create one and share their number in the Research and Biorepository survey, which will help accelerate research..

43. Who should participants contact if they have questions or need help?

Participants can contact the SPS Global Registry team if they have any questions, concerns or need help. The team can be emailed at spsglobalregistry@stiffperson.org or call (301) 244-9314.

National Institute of Health (NIH): https://grants.nih.gov/policy-and-compliance/policy-topics/clinical-trials/good-clinical-training

FITBIR (Federal Interagency Traumatic Brain Injury Research INFORMATICS SYSTEM) https://fitbir.nih.gov/content/global-unique-identifier

National Institutes of Health: https://privacyruleandresearch.nih.gov/pr_07.asp

The CRID.org: https://thecrid.org