Join us in this Journey

 When our journey began, all we had was a diagnosis - and an unwavering determination to do more. From that moment, a powerful community was born. We started by connecting families, raising global awareness, advocating for crucial genetic testing, and uniting allies under one shared mission. This was our vital first step: truly understanding the disease and laying the groundwork to identify therapies. Every step, big or small, built the foundation for what's next. 

• Raise awareness about v-ATPase genetic disorders
• Advocate for genetic testing to identify and support affected individuals
• Foster a community that unites patients, families, and caregivers toward a common goal of developing a cure

• Establish a research team including scientists, clinicians, and drug developers
• Ensure a collaborative approach to accelerate the pathway from research to treatment

We've moved beyond the beginning and are deep into the heart of our mission! Today, we're bringing together brilliant minds – leading scientists, clinicians, and drug developers – who are committed to walking this path with us. We're actively collecting the vital data, starting to collect more precious samples from patients, and groundbreaking knowledge needed to unlock the complex biology behind v-ATPase disorders. Our progress is powered by precision!

We know the path forward:
🔹 Understanding the disease
🔹 Identifying therapies
🔹 Testing what works
🔹 Refining what heals
Each step we take is one of intention. Of courage. Of hope. 

Let's break it down:

• Develop programs to collect and analyze patient data to understand disease progression
• Examples: Rare-X; Citizen
• Establish a biorepository for biological materials critical for research
• Collect samples from living and deceased patients: Blood, urine, brain tissue, etc.

In this Step 3 we need to move three critical initiatives simultaneously for true progress:
- Systematic Data Collection
- Establishing Biorepositories
- Collecting Diverse Biosamples

These 3 initiatives transform anecdotal observations into organized, accessible, scientifically usable information and materials. They are the essential groundwork allowing brilliant minds to move from "what is happening?" to "how can we fix it?" 

Data Collection Programs are the critical first step to do just that: analyze patient data to understand disease progression.

Why it's Crucial: This is our "medical blueprint." Rare diseases often lack comprehensive, organized patient data. By systematically collecting and analyzing information on symptoms, treatments, and progression (e.g., through platforms like RARE-x and Citizen), we can:
- Map the Disease Journey: Identify common patterns, variations, and crucial turning points in the disease.
- Inform Research: Pinpoint specific areas for scientific investigation and potential therapeutic targets.
- Prepare for Trials: Design better clinical trials by knowing who to recruit, what outcomes to measure, and how the disease naturally behaves over time. Without this data, researchers are working in the dark.

This vital work is powered by incredible platforms like:

Rare-X:
- A non-profit dedicated to accelerating rare disease research.
- Provides a secure, patient-owned data platform for sharing de-identified information.
- Empowers patient communities to become active participants in research, fostering data liquidity.

Citizen:
- Offers a personalized health data platform for patients.
- Helps individuals collect, organize, and share their medical records securely.
- Enables patients to contribute their unique data points to research, accelerating discovery.

These programs transform individual experiences into the organized, accessible, and scientifically usable insights that unlock the path forward!
 

Following our critical data collection, the next vital step is to establish a Biorepository to centralize biological materials critical for research. Think of this as our "biological library."

Why it's Crucial: While patient data tells us what happens, biosamples allow scientists to investigate how and whyit happens at a cellular and molecular level. A centralized biorepository ensures:
- High-Quality Samples: Standardized collection and storage preserve the integrity of the samples.
- Accessibility for Researchers: Scientists globally can access these precious, rare samples, accelerating discovery by eliminating the need for each researcher to collect their own.
- Foundation for Models: These samples are the raw material for creating essential disease models, such as iPSC (induced pluripotent stem cell) lines, which are crucial for in-depth lab research and drug screening.

This strategic resource transforms individual biological contributions into a powerful, collective asset, ensuring our research partners have the tools they need to push the boundaries of understanding and find therapeutic solutions.
 

Building on our data collection and biorepository, the final, indispensable piece is the direct collection of biosamples from living and deceased patients. These are the "physical keys" to unlocking the disease's deepest secrets.

Why it's Crucial: Each type of sample offers unique, invaluable insights into the disease's mechanisms:
- Blood/Urine: hese readily accessible samples can reveal critical biomarkers, metabolic abnormalities, and essential genetic information, offering a systemic view of the disease's impact.
- Brain Tissue (Post-Mortem): In neurological disorders like DEEs, brain tissue is invaluable for direct examination of affected cells, understanding pathology, and identifying specific cellular changes that lead to symptoms.
- Comprehensive Picture: By collecting diverse sample types, researchers can build a more complete picture of how the disease impacts different systems in the body, leading to more targeted and effective therapeutic strategies. Without these physical samples, many critical experiments are impossible.

By collecting a comprehensive range of these physical samples, researchers gain the necessary tools to build a complete, nuanced picture of how v-ATPase disorders affect various bodily systems. These samples are absolutely essential for developing accurate disease models, conducting targeted lab experiments, and ultimately, designing more effective therapeutic strategies. Without them, many critical experiments remain out of reach. 

Get to know more about our biosample collection program and reach out to us to participate.

Not an affected patient? You can help us fundraise the funds to help our patients!

These three initiatives – Data Collection, Biorepository Establishment, and Biosample Collection – are ongoing projects that must be fed simultaneously. Their continuous, parallel progress is vital to assure we are fully ready for Step 4: Develop and Characterize Models.

• Establish a research team including scientists, clinicians, and drug developers
• Ensure a collaborative approach to accelerate the pathway from research to treatment

Building on data and biosamples, our next critical phase is to Develop and Characterize Models of v-ATPase disorders. These "living labs" and "testbeds" allow scientists to study the disease outside patients in controlled environments to:
- Mimic Disease Biology
- Test Hypotheses
- Screen Potential Therapies
- Uncover Pathways
This bridges understanding to active treatment search, moving us closer to Identifying Therapies.

Examples of Models and Their Value:

iPSC-Derived Cellular Models:
- Human Relevance: Created from patient-derived induced pluripotent stem cells, these models allow us to study human-specific disease mechanisms in a dish.
- Personalized Insight: They offer unique insights into how v-ATPase dysfunction manifests in patient-specific cells.

Animal Models (e.g., Mouse, Zebrafish):
- Whole-Organism Impact: Provide a platform to study how the disease affects entire biological systems.
- Preclinical Testing: Essential for testing drug efficacy, safety, and pharmacokinetics in a living organism before human trials.

Computational Models:
- Predictive Power: Utilize algorithms and bioinformatics to predict drug interactions, identify novel targets, and simulate complex biological pathways.
- Efficiency: Can analyze vast datasets and accelerate the identification of promising leads.

In Vitro Models:
- Early-Stage & High-Throughput Screening: These models allow for rapid, controlled testing of how potential drugs interact with specific disease-related proteins or enzymes in a test tube.
- Mechanistic Insight: Ideal for understanding fundamental biochemical processes and identifying direct drug targets at the molecular level.

Developing these models is a continuous, integrated process, translating understanding into actionable discovery platforms. This work is paramount for Step 5: Identifying Target Therapies 

Our eyes are fixed on the ultimate destination: a cure for v-ATPase disorders! We know the journey is far from over, but we walk it together—with incredible courage, unwavering intention, and boundless hope. Every single step we take, fueled by our community, our dedicated partners, and your generosity, brings us closer to that life-changing breakthrough. The future where a cure exists is within our grasp!

Here's a look ahead:

• Explore the biological pathways affected by v-ATPase mutations
• Determine potential intervention points that could be targeted by therapies

• Implement drug repurposing strategies and test existing compounds for efficacy
• Develop and test new therapeutic compounds tailored to the specific needs of the patient population

• Perform detailed pre-clinical studies to evaluate the safety and effectiveness of the selected therapies
• Prepare for regulatory submissions and clinical development

• Execute well-designed clinical trials to assess therapeutic efficacy and safety in patients
• Collaborate with regulatory bodies to ensure compliance and patient safety

 What comes next:

• Continued Support
• Advocacy for Accessibility and Availability
• Affordability and Funding - including Insurance Coverage
• Continued Optimization
• Assure The Cure stays on the market