We are excited to announce that the new PURA Syndrome Patient Registry is now open to families!
Built in partnership with COMBINEDBrain and Matrix, the PURA Syndrome Patient Registry is now open for enrollment. The registry will help researchers build a natural history of what PURA Syndrome looks like across a lifetime and is also a tool your family can use for your own care. It is free to join, translatable in 8 languages, and offers standardized surveys that are used by other rare disease groups, which means PURA data will have the ability to be compared and pooled with other rare conditions that share similar features such as seizures, low muscle tone and communication difficulties.
Why should you participate?
There is still no complete description of what PURA Syndrome looks like across a lifetime – which symptoms appear, at what ages, how they change, what varies between individuals and what holds true for nearly everyone. This description cannot be built in a lab – it can only be built from families reporting what they live with.
Information from the registry will be used to:
- Build the natural history of PURA syndrome — which symptoms appear, at what ages, and how they change over time
- Identify which treatments and medications families report as effective, and which are not
- Look for patterns between a person’s specific variant and the symptoms they have
- Develop the measures a future clinical trial would use to tell whether a treatment is working
- Work in conjunction with biobank samples, providing additional information to researchers when a family has donated one and shared the same CRID
- Improve guidance for day-to-day care, including what clinicians should watch for and when
- Support research across several neurodevelopmental conditions at once, through COMBINEDBrain
The data PURA research depends on
Researchers need a clear picture of how PURA affects people over time. It matters because you cannot tell whether a treatment is working without knowing what happens without one. Any future clinical trial needs agreed-upon measures of change, drawn from data about how the condition changes across many people and many years. A registry is how that data gets collected — systematically, from many families, over years. This is the work that has to happen before a trial can be designed, not after.
As we mentioned before, the standardized surveys used by other rare disease groups are included, so PURA data can be compared and pooled rather than sitting on its own. PURA Syndrome shares features with other rare conditions — seizures, low muscle tone, communication difficulties — and being part of a larger pool is how questions get answered that our numbers alone could not answer.
The Registry is designed to continue indefinitely, and researchers will ask questions we have not thought of yet. Every request from outside researchers is reviewed before any data is released. Our registry FAQ explains that review process and what can and cannot be shared.
PURA is rare enough that every family’s participation changes the picture measurably. When a family isn’t represented, that’s a real gap in what researchers can see.
Use it as a tool for managing care
You know the feeling. A new neurologist, a new therapist, a new school year — and you’re rebuilding your child’s entire history from memory, a folder in the car, and photos on your phone.
With the new registry, your loved one’s medical information lives in one account that you control. The platform’s Sharing Center lets you securely send what you’ve entered to a new specialist, a school nurse, or another caregiver — they don’t need an account of their own. Families in the United States can also connect their patient health portals and pull medical records in directly rather than entering everything by hand.
You also have the ability to track symptoms over time, including seizures, and bring that to an appointment instead of trying to remember how many weeks ago the last cluster happened.
How much time will this take?
First you will need to create an account, sign the consent, and answer a general health questionnaire about your loved one. From there, the registry builds your questionnaire list based on the answers you gave on the general health questionnaire. You will only be asked about the systems and symptoms that apply. Sections run between five to fifteen minutes and you can stop and come back whenever you can. New surveys appear on your dashboard over time, and you will receive an email when a new one is waiting. Once you have completed a survey, you can see how other families answered the same questions.
Your data is yours
You can decide to take part and you can stop at any time by emailing the platform’s support team at MatrixSupport@AcrossMatrix.com. Nothing further is collected after that, however, data already shared with researchers can’t be removed. You can also request and download everything you’ve entered at any point.
The data is stored de-identified on a platform meeting U.S. (HIPAA) and European (GDPR) privacy standards. What researchers receive is de-identified and grouped. In some situations — where we’re working directly with your own clinician or a lead researcher on your loved one’s case — identifiable information may need to be shared, and the consent form explains exactly when. You will read and sign that consent before anything is collected, and our Registry overseen by North Star Review Board, an independent ethics board whose job is to protect research participants.
About the CRID (Clinical Research ID)
Before you finish enrolling you’ll create a CRID — a free code you make yourself at thecrid.org. It links your loved one’s data across studies without anyone seeing who they are, so you don’t re-enter the same information every time a new study opens. The same CRID works for the PURA biobank.
How to start
Go to pura.acrossmatrix.com and click “Not Registered?” to set up your registry account. You will also need to get your CRID by visiting thecrid.org. The registry is available in English, Spanish, French, Italian, German, Korean, Portuguese, and Hebrew, though not every survey has been translated into every language yet.
Our step-by-step family guide walks you through the whole process, and emailing support@pura-syndrome.org will answer anything it doesn’t.
What about the registry I already filled out?
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.
Why COMBINEDBrain and Matrix?
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. COMBINEDBrain also connects the registry to the U.S. biobank and EEG bank, and to research spanning many neurodevelopmental conditions at once. Partnering with them gives us the platform at a significantly reduced cost, coverage under an independent ethics board, standardized surveys that make our data usable alongside other studies, multiple languages, and the ability to change the registry as our needs change.