Patient REgistry

We launched the first patient data collection program for v-ATPase-related disorders in partnership with Rare-X on March 19th, 2024. This milestone is the first step stone in our journey towards understanding and treating v-ATPase-related disorders.

The v-ATPase Alliance patient Data Collection Program (DCP) is a foundational study to create a robust open-access data set to speed scientific breakthroughs and life-changing treatments for our children. We aim to gain important information that may help in understanding how these disorders manifest, who is "at risk" of developing certain epilepsy and neurodevelopmental symptoms, who is not, and why, and we will follow people over time to learn how the disease progresses during its natural course. That information may lead to insights and tools that can help better diagnose, treat, and even cure this disease.

But we can't do it alone.

 We need your enrollment and participation to gather important data from as many individuals as possible - remember we are a small population and therefore each participant has a huge impact on the robustness of the study. This is a tremendous task that our team is committed to supporting moving forward. The v-ATPase DCP study will set the foundation to establish Clinical Outcomes Assessments (COAs) and Clinical Endpoints. These consist of measurements or observations that reflect how a patient feels, functions, or survives, and outcomes that can be used to evaluate the effect of an intervention on participants in a clinical trial, respectively.

The v-ATPase DCP is pivotal for our long-term success, enabling us to:

• Measuring Treatment Effectiveness: COAs and clinical endpoints provide objective measures to assess the effectiveness of a treatment or intervention. They help determine whether a new drug, therapy, or medical device produces the desired outcomes in patients.
• Understanding Patient Experience: COAs, particularly patient-reported outcomes, provide insights into the patient's perspective on their health status, symptoms, and quality of life. This patient-centric data is valuable for evaluating the overall impact of a treatment beyond clinical measurements.
• Regulatory Approval: Regulatory agencies such as the U.S. Food and Drug Administration (FDA) require evidence of clinical benefit, often demonstrated through COAs and clinical endpoints, for approving new drugs or medical interventions.
• Comparing Interventions: COAs and clinical endpoints facilitate comparisons between different treatments or interventions, helping healthcare professionals and patients make informed decisions about the most appropriate course of action.
• Monitoring Safety: Knowing what the disease looks like also helps with defining safety measures, which are crucial for assessing the risks associated with a treatment. Monitoring adverse events and safety endpoints helps ensure patient safety throughout the course of a drug testing.
  
  

Together we have the ability to build a vast and evolving engine of discovery that will funnel a wealth of insights, practical tools, and data directly into the hands of researchers and drug developers worldwide. The v-ATPase DCP holds the promise of reshaping the trajectory of v-ATPase research, guide clinical decision-making, and contribute to a healthier future for our children.

Sign up today and complete all the questionnaires from the comfort of your home.

Help us cure v-ATPase disorders.

Want to know more about the v-ATPase DCP?

Watch our launching Webinar!

Follow our Page by Page Guide with notes to help you guide through the setup and consent forms. PDF available here.