Last month, our board member Celena Lozano had the opportunity to attend the COMBINEDBrain Annual Summit. This gathering included patient advocacy groups (like the PSF), researchers, and industry partners all working toward the common goal of fast-tracking treatments for rare neurodevelopmental disorders. Celena had the opportunity to network with other foundations who share similar challenges and hopes, and to see how collaboration and shared data are helping move science forward. Celena was proud to see that the PSF is on the right track with the current work being done to support research for the PURA community. We are excited to continue growing partnerships that can help bring research and impact closer for our families. Below is a reflection written by Celena.
Reflections from the COMBINEDBrain Summit: Why does getting involved matter?
By Celena Lozano, PSF Board Member
As a PURA parent, board member of the PURA Syndrome Foundation (PSF), and a Neuroscience PhD student, I think a lot about the future for our children. Many of us dream of treatments and therapies that will help our kids live fuller and healthier lives. But what I’ve come to learn since getting involved with the PSF is this: those dreams won’t become reality unless we, as a community, play an active role in making them happen.
A few weeks ago, I attended the COMBINEDBrain summit, a gathering that brought together patient advocacy groups (PAGs) like ours, researchers, industry partners, and clinicians. Over two days, the conversations reminded me just how much work happens behind the scenes to push research forward for rare diseases like PURA Syndrome.
COMBINEDBrain is a consortium of rare neurodevelopmental disorder organizations (like the PSF) that work together to speed up research and the journey to therapeutic development. Their mission is simple but powerful: by combining our efforts, sharing resources, and speaking with a united voice, we can achieve more than any one group can on its own.
It’s easy to imagine that once a therapy is developed, it will immediately be available to our kids. But in reality, treatments can only move forward if patient communities are ready.
So, what does our community need to do to be ready for when a treatment becomes available and what can you do to contribute?
- Participate in patient registries. A registry is a secure database where families share medical and developmental information about their child. This may feel like “just filling out forms,” but it’s actually the first place researchers look when planning a study or trial. Without a strong, up-to-date registry, it’s impossible to design studies or recruit patients for clinical trials. Be on the lookout for an announcement of our updated patient registry coming soon!
- Participate in Natural History studies. These are long-term studies that track how PURA Syndrome progresses over time without intervention. They provide a “baseline picture” of the condition. This baseline is essential, because when a therapy comes along, researchers need to know whether the treatment is actually helping compared to what would normally happen. Without natural history data, you can’t answer that question.
- Contribute samples and data to identify biomarkers. A biomarker is a measurable signal in the body. For example, something in the blood, urine, cerebral spinal fluid, or a specific EEG pattern can reflect how the disorder works or how it changes with treatment. Identifying reliable biomarkers can make clinical trials faster and more accurate, because researchers don’t have to wait years to see outcomes but can instead measure meaningful change directly. See below to learn more about how you can contribute to the biobank and/or EEG bank to help identify biomarkers for PURA Syndrome.
- Identify clinical endpoints. These are the specific outcomes used to judge whether a treatment works. For PURA Syndrome, that might mean improvements in mobility, communication, or seizure frequency. Defining endpoints is critical, because they are what regulators like the FDA use to decide if a treatment can be approved. Identification of clinical endpoints comes from patient reported data in the natural history study.
- Get an accurate report of patient numbers. One of the challenges with rare diseases is that prevalence is often underestimated. This is why advocating for genetic testing is so important. Every new diagnosis doesn’t just give one more family an answer. Each newly identified patient strengthens our data, increases our prevalence numbers, and draws more attention from researchers, clinicians, and industry partners. The more patients we can identify, the more likely PURA is to be included in studies and treatment pipelines.
How can you contribute biological samples and clinical data?
- Contribute to the biobank. A biobank is a secure repository where biological samples — such as blood, tissue, urine, or cerebral spinal fluid — are stored and made available to researchers. These samples are incredibly valuable because they allow scientists to study PURA Syndrome in actual human material, giving insights that cannot be gained from research models alone. Through the PSF’s partnership with COMBINEDBrain, PURA families can contribute samples to the COMBINEDBrain biobank.
- Contribute to the EEG bank COMBINEDBrain is building. Since many of our children experience seizures or atypical brain activity, pooling EEG data in a central, shared resource is critical. By contributing EEGs, families help researchers identify patterns and better understand the brain activity underlying PURA Syndrome.
Together, biobanks and EEG banks ensure that the data and resources are already there for researchers to access which makes it faster and easier to move promising treatments forward. Stay tuned to see how to contribute to these efforts.
Interested in participating in an COMBINEDBrain’s current outcome measure study?
- This is an example of a caregiver-reported survey that captures meaningful daily outcomes. COMBINEDBrain is validating the Observer-Reported Toileting Abilities Survey (ORTAS), which measures independence in a basic life skill: toileting. The purpose of this 30-minute online survey is to measure toileting abilities as an outcome measure. Tools like this are essential because they help define clinical endpoints that matter to families.
So what does all this mean for us?
It means that your participation matters. None of the above can happen without families.
When members of the PSF attend meetings like this summit, it’s not just to listen. It’s to learn what the PURA community needs to do next, to network with partners, and to make sure we’re doing everything possible to advance treatments for our loved ones. Our role as a foundation goes far beyond hosting the annual family conference — we are building the infrastructure that makes research possible.
And we can’t do it without you. Every family who joins a study, donates a sample, and actively engages with the PSF community is part of this effort. Together, we are the ones shaping the future for our kids.
