2 Ongoing Programs

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.

The v-ATPase Alliance, recognizing the need for accelerated research, has partnered with Citizen Health. While the Rare-X study provides invaluable longitudinal data, the partnership with Citizen Health leverages AI to analyze existing medical records, accelerating research timelines.

This collaboration offers dual benefits:

• Accelerated Research: Uncover crucial insights through the analysis of existing medical data.
• Empowered Families: Citizen Health provides families with convenient access to their medical history, empowering them and their care teams.

By combining the strengths of both initiatives, we are moving closer to a future where v-ATPase disorders are better understood and effectively treated.

 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. 

At v-ATPase Alliance we are committed to raising awareness and advancing medical research for v-ATPase disorders. We partnered with Global Genes, a large non-profit with the mission to generate information and resources to all communities affected by rare diseases, to create the first Patient Registry for v-ATPase patients. Leveraging their RARE-X Data Collection Platform, this partnership will enable the collection of standardized and research ready information for v-ATPase disorders, and marks a significant milestone in our journey to develop treatments for our children. 

What is a Patient Registry?

A patient registry is a systematic collection of standardized information about individuals with a specific medical condition. These registries are organized databases that gather and store data on patients who share a common diagnosis or condition. The information collected in patient registries typically includes demographic details, medical history, clinical outcomes, treatments received, and other relevant data.

Why is it important?

Registries provide valuable data for research and clinical studies, allowing researchers to analyze trends, outcomes, and the effectiveness of treatments. They can help identify patterns and contribute to evidence-based medicine. Registries also allow for the long-term tracking of individuals with specific conditions. This longitudinal data can provide insights into the natural history of the disease, the impact of interventions over time, and the overall health and well-being of the patient population. 

Pharmaceutical companies and medical device manufacturers may use patient registries to gather data on the natural history of a disease to assess safety and effectiveness of new drugs or devices. This information is important for regulatory submissions and post-market surveillance. Similarly, healthcare providers can use patient registries to identify areas for improvement and enhance the quality of care.

And last but not less important, patient registries are tools that we, the community, can leverage to understand more about the disease and feel empowered to have informed discussions with physicians and other health professionals, as well as use them to raise awareness and involve the research community, advocate for policy changes, and enhance overall care.

What does this mean to all of us?

A Patient Registry is as valuable as the level of participation and compliance from all the community. The more information and details we can provide to the RARE-X Data Collection Program (DCP), the richer the data set will be. Having a broad participation from the community is even more important in the case of ultra-rare diseases where the numbers are very low to begin with. 

We are excited with this novel instrument we're building for the v-ATPase community and hope you'll join us creating the first patient registry for v-ATPase disorders and be a crucial part of advancing medical research and awareness! The study is free for participants; you can conveniently participate from home (It's all online); your data is yours and you can withdraw from the study at any time removing all the data; all data is treated in aggregate form, ensuring complete de-identification (no personal information is shared).

Next Steps

The Data Collection Program at RARE-X is available and will help us be one step closer to find the cure for v-ATPase disorders.