There are two paths. If they cannot manage the account themselves, you add them as a participant and handle everything on their behalf, using your own email address. If they can manage their own account, they are added with their own separate email address and their own login.

The consent form has a matching set of options, including one for a legally authorized representative acting for an adult who cannot consent.

No. Joining the registry is free, creating a CRID is free, and there is no charge at any point. Participants are also not paid for taking part.

You will be asked to indicate whether your loved one has a PURA variant or a deletion which can be found on your genetics report. You are also encouraged to upload a genetics report. If you are not sure, you can select “other/unknown” and continue.

You start with general information about your loved one and a general health questionnaire. Your answers to those questions will determine which surveys you are asked to complete next — the registry only asks about the areas that apply to your loved one.

The questions cover medical history, development and milestones, behaviour, sleep, seizures, medications, and body systems such as muscles, vision, hearing, digestion, and breathing. Some surveys use standardized instruments that other rare disease groups also use, which is what allows PURA data to be compared with data from other conditions.

A small number of surveys will be emailed to you again every six or twelve months so that researchers can see what has changed over time.

Creating your account and your CRID takes a few minutes. New surveys are added to your dashboard and you will also receive an email when a new survey is waiting for you. Each survey indicates how many questions you will need to answer and an approximate length of time it will take to complete it. Most individual surveys take between five to fifteen minutes.

Yes. Surveys appear on your dashboard and you complete them when you have time. There is no requirement to finish everything in one sitting.

The CRID is a free code that you create yourself at thecrid.org. It acts as your loved one’s research identifier. It links their information across different studies without anyone seeing who they are, so you do not have to enter the same information again every time a new study opens. You need a CRID to enroll, and the same code works for the biobank.

Yes. The registry is available in English, Spanish, French, Italian, German, Korean, Portuguese, and Hebrew. Not every survey has been translated into every language yet. Our step-by-step family guide is currently in English, and translations are being prepared.

Log back into your account at pura.acrossmatrix.com and you will return to where you left off. If you need help, email support@pura-syndrome.org.

We are grateful to everyone who took the time to fill out the previous registry. We’re pursuing an analysis of the previous registry data so what was entered gets used. The new surveys are standardized, which means the information does need to be entered again.

You can still take part, and we hope you will. When you register, select “caregiver who has lost a loved one.” The experience of every person with PURA Syndrome is part of what researchers need to understand the condition across a full lifetime, and families who have lost a child hold information that exists nowhere else. If you would rather talk with someone before you begin, email support@pura-syndrome.org.

Your information is stored de-identified on a platform that meets U.S. (HIPAA) and European (GDPR) privacy standards, and follows the U.S. Food and Drug Administration’s rules for electronic research records. Only ethics-trained Foundation staff registered with COMBINEDBrain can see identifiable information. If there were ever a security incident involving your data, the platform is required to notify the Foundation within 24 hours.

The consent form describes the main risk plainly: the risk is to your privacy. Every precaution is taken and the risk is low, but no one can promise that a participant’s identity could never become known.

The consent form has a matching set of options, including one for a legally authorized representative acting for an adult who cannot consent.

Yes. You can request and download all of the information associated with your loved one’s CRID.

Yes, at any time. You withdraw by emailing the platform’s support team at MatrixSupport@AcrossMatrix.com in writing. After that, no further information is collected. Information that has already been analysed or shared with researchers cannot be recalled.

Your information is used to describe PURA Syndrome as it actually is, across many people and across a lifetime. That description is what almost every other kind of research depends on.

Specific uses include:

• Building the natural history of PURA Syndrome — which symptoms appear, at what ages, and how they change over time
• Identifying which treatments and medications families report as effective, and which are not
• Looking for patterns between a person’s specific variant and the symptoms they have
• Developing the measures a future clinical trial would use to tell whether a treatment is working
• Improving guidance for day-to-day care, including what clinicians should watch for and when
• Working in conjunction with biobank samples, providing additional information to researchers when a family has donated one and shared the same CRID
• Finding out how many people might be eligible for a study, which is part of how a company decides whether to invest in a condition
• Research that looks across several neurodevelopmental conditions at once, through COMBINEDBrain — for example studies of seizures, low muscle tone, or communication difficulties that affect PURA Syndrome and other conditions together

We cannot give you a complete list of every future use. The Registry is designed to continue indefinitely, and researchers will ask questions we have not thought of yet, using methods that may not exist yet. Every request from outside researchers is reviewed before any data is released, and the consent form describes the limits of what can be shared.

Your information is also yours to use directly: keeping records in one place, tracking symptoms over time, and sharing with your own care team.

A researcher submits a request describing what data they need and why. Requests from outside researchers, both academic and commercial, are reviewed by a steering committee made up of representatives from the PURA Syndrome Foundation, COMBINEDBrain, and Across Healthcare, which meets at least four times a year. Approved academic requests receive de-identified data sets. Commercial requests are negotiated case by case.

Companies developing treatments can request access to de-identified registry data, under the same review as academic researchers. This is deliberate. A treatment for PURA Syndrome will almost certainly be developed by a company, and a company cannot develop a treatment for a condition it cannot describe.

When a for-profit company pays for access to registry data, that payment is shared between Across Healthcare, the PURA Syndrome Foundation, and COMBINEDBrain. The Foundation’s share will go directly towards funding our research grants and programs.

Our board spent much of 2025 evaluating registry platforms before choosing to rebuild here. Ease of use for families was one of the criteria we weighed, alongside cost, data security, researcher access, and translation. 

Matrix works as a tool for families as well as a research database. Families can keep medical records in one account, import records directly from their health portals in the United States, track symptoms over time, and share what they have entered with a new specialist or a school nurse without that person needing an account.

Choosing COMBINEDBrain mattered as much as choosing the platform. The registry is not a standalone project — it is connected to the U.S. biobank and the EEG bank, which are also run through COMBINEDBrain. The same CRID links your loved one’s survey answers to their biological sample, so a researcher studying that sample can see the clinical picture that goes with it. Neither resource is as useful on its own.

Being part of COMBINEDBrain also opens the door to research across many neurodevelopmental conditions at once. PURA Syndrome shares features with other rare conditions — seizures, low muscle tone, communication difficulties — and because our surveys are the same standardized ones other groups use, PURA data can be studied alongside theirs. For a condition with a small number of identified patients worldwide, being part of a larger pool is how questions get answered that our numbers alone could not answer.

Practically, the partnership also gives us the platform at a significantly reduced cost, coverage under an independent ethics board, multiple languages, and the ability to change the registry as our needs change.