The CMT Mobile App 2.0

The Hereditary Neuropathy Foundation

Individuals with Charcot-Marie-Tooth (CMT) disease confront numerous challenges that significantly impact their lives. The diagnostic journey is often protracted and challenging, spanning years due to the condition's gradual onset and non-specific symptoms. Coupled with a pervasive lack of awareness and education, this leads to substantial delays in diagnosis. Healthcare professionals frequently lack sufficient training and knowledge about CMT, complicating effective diagnosis and management. 

Misdiagnosis rates are high, as symptoms such as muscle weakness and sensory deficits can mimic other neurological or musculoskeletal disorders, resulting in treatments that fail to address the underlying condition and may worsen symptoms. These diagnostic challenges contribute to the progressive nature of CMT, potentially causing irreversible damage such as amputation, sensory loss and significant declines in muscle function when interventions are delayed.

Access to specialized care presents another significant hurdle for CMT patients. Many lack opportunities to consult with specialists familiar with the condition, relying instead on general practitioners who may not be well-versed in CMT specifics. This leads to suboptimal care and further diminishes their quality of life and disease management. The psychological toll is profound, with many patients experiencing depression, anxiety, and social isolation due to the disease's physical limitations and chronic nature. Geographical and financial barriers further complicate matters, making it difficult for rural or underserved patients to access expert care.

CMT is among the most prevalent inherited neurological disorders, affecting approximately 150,000 individuals in the US and 2.6 million people globally, with an incidence rate ranging from 1 in 2,500 to 1 in 3,300. Despite its prevalence being equal to Multiple Sclerosis, many cases go undiagnosed or misdiagnosed due to limited awareness and the complexity of its over 100 genetic mutations. 

The challenge of documenting and understanding CMT disease highlights a broader issue affecting many rare diseases. Traditional methods of recording symptoms, disease progression, and treatment responses often fail to capture the full scope of patient experiences. Written records do not provide the comprehensive, real-time data needed for accurate diagnoses and effective treatment planning.

Geographical barriers further complicate the situation, making it difficult for patients in remote areas to receive personalized advice and tailored treatment plans from specialists. For those requiring bracing, surgery, physical therapy (PT), or occupational therapy (OT), the lack of real-time monitoring hampers precise adjustments to treatments, leading to suboptimal outcomes.

Moreover, the recruitment process for clinical trials faces significant obstacles due to limited access to diverse patient populations. This not only slows down the development of new treatments and therapies but also limits the applicability of research findings across different demographics. Without a broad and representative patient base, clinical research and therapeutic development cannot effectively advance.

These challenges are not unique to CMT but are common across many rare diseases. Addressing these issues is essential to improve diagnostic accuracy, optimize treatment outcomes, and advance research for those living with rare diseases globally.

Integrating video capture using the CMT Mobile App 2.0 into our Global Registry for Inherited Neuropathy (GRIN) offers a promising way to enhance care and wellness for those with complex conditions like CMT. Video capabilities enable patients to document symptoms, disease progression, and treatment responses, giving healthcare professionals and researchers a comprehensive understanding of the condition. This innovation could lead to more accurate diagnoses by allowing experts to observe real-time patient experiences and symptoms not fully captured in written records.

Video capture democratizes access to expert care and clinical trials, regardless of geographical barriers, ensuring personalized advice and treatment plans. For patients requiring bracing, surgery, physical therapy (PT), or occupational therapy (OT), video monitoring facilitates precise treatment adjustments, improving effectiveness and outcomes. Real-time video feedback enhances brace fitting, optimizes surgical results, and tailors PT/OT exercises to individual needs.

Furthermore, video integration expedites patient recruitment for clinical trials by broadening access to diverse populations worldwide. This advances treatment and therapy development while fostering a more empathetic and supportive patient-care-provider relationship. 

HNF is expanding and enhancing GRIN, powered by Across Healthcare’s rare disease Matrix platform. GRIN aims to empower individuals affected by CMT, alongside their caregivers, clinicians, and researchers through the integration of video capture technology.

This enhancement allows patients to document symptoms and daily activities directly within the registry, a feature not currently available. By incorporating video capture, GRIN will capture nuanced aspects of patient experiences not easily conveyed through written records. This includes assessments of mobility using scales such as the Overall Neuropathy Limitations Scale (ONLS), Charcot-Marie-Tooth Pediatric Scale (CMTPedS), Timed Up and Go (TUG) test, and other essential activities of daily living (ADL’s) that significantly impact patients' quality of life.

GRIN already serves as a repository for critical data, including patient-reported information, curated genetic reports, and validated clinical measures. The addition of video documentation enhances the registry's utility and impact, facilitating comprehensive clinical care by providing clinicians with a deeper understanding of disease progression and its functional implications. This supports personalized treatment planning tailored to address specific challenges each patient faces.

Moreover, integrating video capture into GRIN catalyzes research efforts in CMT and serves as a case study for other rare diseases. Researchers can analyze correlations between clinical assessments and real-life functional abilities captured through video, advancing natural history studies, biomarker, and clinical trial development by identifying meaningful endpoints and enhancing recruitment strategies based on real-world patient experiences.

Capturing video involves developing a clear protocol for patients and caregivers to follow on their smartphones. Uploaded videos would be securely submitted to GRIN, which is HIPAA and IRB-approved for privacy standards. Simple video tutorials will guide users on setting up their smartphones for recording and uploading videos effectively. Support resources will be available to troubleshoot issues and provide feedback. Efforts will be made to offer this protocol in multiple languages to accommodate diverse patient populations. This approach empowers patients to contribute valuable data, advancing research and improving clinical care for Charcot-Marie-Tooth disease and related neuropathies globally.

Our solution will begin by implementing video capture capabilities into GRIN via the CMT Mobile app 2.0 for the existing participants of GRIN, comprising over 4,500 adults and children across 60 countries who have already completed extensive natural history surveys, including assessments of mental health and various other aspects relevant to CMT disease. 

Simultaneously, we will expand our efforts to recruit new patient members globally, aiming to include a diverse range of individuals and ensure broad representation within the registry. By offering accessible, multilingual video tutorials and maintaining our commitment to HIPAA and IRB standards for privacy and ethical research conduct, we aim to facilitate seamless participation for individuals worldwide. 

This underserved population includes not only patients grappling with progressive muscle weakness and sensory impairments but also their care partners, healthcare providers, and researchers who confront limited awareness and educational resources about CMT's intricacies. 

Our innovation empowers patients to use their smartphones to document essential data such as functional scales and ADLs. By enabling individuals to record their symptoms and daily challenges visually, we enhance the richness and depth of data collected in GRIN beyond traditional methods, providing a more comprehensive understanding of disease progression and treatment responses.

One of the primary benefits of incorporating video capture into GRIN is improving diagnostic accuracy and precision. Video documentation allows for real-time visualization of symptoms and functional limitations that may not be fully captured in clinical notes or self-reported surveys. This visual evidence aids healthcare providers in making more informed diagnoses and developing personalized treatment plans tailored to each patient's unique presentation of CMT.

Beyond diagnostics, our solution addresses the critical need for equitable access to specialized care and research opportunities. Many individuals with CMT face geographical barriers that limit their access to expert healthcare providers and clinical trials. By facilitating remote consultations through video capabilities, our platform connects patients with specialists worldwide, ensuring they receive timely and comprehensive care regardless of location. This accessibility is further supported by the inclusion of simple, multilingual video tutorials that guide patients and caregivers in effectively using the platform, enhancing their ability to actively manage their health.

Privacy and data security are paramount considerations in our approach. GRIN complies rigorously with HIPAA regulations and institutional review board (IRB) approvals to protect patient confidentiality and ensure ethical data handling practices throughout the video capture and upload process. This commitment to privacy enables patients to confidently share their health information while contributing to research efforts to advance treatments and therapies for CMT.

By harnessing technology to empower patients and amplify their voices in research and healthcare, our solution aims to transform the management of CMT. Through enhanced data collection, improved access to specialized care, and strengthened research collaborations, we aspire to significantly improve the quality of life for individuals living with CMT and accelerate progress toward effective treatments and, ultimately, a cure for this complex neuromuscular disorder and other rare diseases.

Based on the development stage, our solution is currently in the growth stage. This stage is appropriate because in 2022, HNF launched and tested our CMT Mobile App 1.0, with a cohort of 40 patients, allowing us to gather initial feedback and insights into its functionality and user experience. During this pilot phase, we focused on refining the app's protocol for capturing visual endpoint determinants of CMT, ensuring it adheres to HIPAA standards for data security.

Through our pilot trial:

1. We engaged directly with 40 CMT patients who enthusiastically participated in sharing their health data outside traditional clinical settings.

2. Feedback from users highlighted that our protocol effectively addresses their daily challenges related to CMT.

3. Despite achieving positive user engagement, we identified opportunities for improvement, specifically enhancing the quality of visual data and optimizing equipment setup and training.  

Moving forward, we are committed to refining the CMT Mobile App in collaboration with partners in order to successfully integrate this technology into GRIN/Matrix Platform. Our goal is to enhance its functionality, usability, and data quality to ensure it operates flawlessly for users. This pilot phase has provided a strong foundation for further development and improvement of the app, paving the way for broader adoption and impact within the CMT patient community. We are excited to launch CMT Mobile App 2.0 to democratize access to specialized care, improve diagnostic accuracy, and empower CMT and other rare disease patients globally.

Integrating video capture into GRIN introduces innovation by fundamentally transforming how CMT is managed and diagnosed, leveraging mobile technology to bridge gaps in healthcare accessibility and patient empowerment as follows:

1. Patient-Centered Approach: Unlike traditional healthcare models that often require patients to travel long distances to specialized centers, our app brings expert care directly to the patients. This approach not only improves convenience but also enhances patient engagement and compliance by allowing them to participate actively in their own healthcare.

2. Visual Data Capture: One of the app's key innovations is its use of visual endpoint determinants of CMT, captured through a user-friendly protocol. This goes beyond traditional symptom reporting, providing clinicians with real-time, objective data that can enhance diagnostic accuracy and treatment monitoring. By integrating video capabilities, the app captures nuanced aspects of disease progression and treatment responses that may not be fully captured through traditional methods.

3. HIPAA-Compliant and Secure: Ensuring patient data privacy and security is paramount. The app adheres to HIPAA and international GDPR, and 21 CFR part 11 compliance standards, providing a secure platform for storing and transmitting sensitive health information. This builds trust among users and healthcare providers for widespread adoption and scalability.

4. Pilot-Tested and Iterative Development: Through our pilot phase with 40 patients, we have validated the app's feasibility and initial efficacy while identifying areas for improvement. This iterative development approach allows us to refine the app's functionality, address technical challenges, and optimize user experience based on real-world feedback.

5. Broader Impacts and Market Potential: By successfully addressing the specific needs of CMT patients, the app sets a precedent for how technology can support rare disease management more broadly. Its innovative approach to remote patient monitoring and data collection could catalyze similar developments in other rare diseases, streamlining diagnostic processes and enhancing personalized care pathways.

6. Market Landscape Transformation: The introduction of the CMT Mobile App has the potential to disrupt the market by shifting the focus towards patient-centered, technology-enabled healthcare solutions. It encourages healthcare providers and developers to explore similar innovations, spurring competition and collaboration in improving care delivery for rare diseases globally.

7. Empowerment and Accessibility: Ultimately, the app empowers CMT patients by giving them greater control over their healthcare and facilitating access to expert care irrespective of geographical barriers. This not only improves individual patient outcomes but also contributes to the broader goal of advancing rare disease research and therapy development. Additionally, the app can positively impact mental health by reducing anxiety and stress through enhanced access to care and support.

In conclusion, the CMT Mobile App 2.0 represents a significant leap forward in managing and monitoring rare diseases like CMT. Its innovative use of mobile technology, coupled with patient-centered design and rigorous data security measures, positions it as a transformative tool in healthcare. By catalyzing positive impacts within the rare disease space and potentially influencing broader healthcare practices, the app is poised to change the landscape by setting new standards for accessibility, patient engagement, and personalized care.

Applying to The Amgen Prize represents a crucial opportunity to advance our innovative solution, integrating video capture into our GRIN, which will specifically benefit patients with Charcot-Marie-Tooth (CMT) disease. Our solution addresses several significant barriers that hinder effective CMT management and patient outcomes.

Financial Support: The Amgen Prize offers vital financial resources that will accelerate the enhancement and scaling of our video capture capabilities within GRIN. This funding will enable us to refine our technology, improve user experience, and expand our reach to a broader patient population globally. The prize will help us overcome initial financial barriers associated with innovation in rare disease management by supporting our development efforts.

Technical Expertise: Technical challenges, such as optimizing video data capture, ensuring platform compatibility across devices, and enhancing data analytics capabilities, remain critical. The Amgen Prize provides access to technical expertise and mentorship, facilitating the resolution of these challenges. Collaboration with additional industry leaders will guide us in developing robust solutions that meet the stringent requirements for data security, privacy (HIPAA compliance), and seamless user experience.

Regulatory Compliance: Compliance with healthcare regulations, particularly regarding patient data privacy, is paramount. The Amgen Prize includes access to legal guidance and support to navigate complex regulatory landscapes, ensuring our solution adheres to the highest standards of ethical research conduct. This support will bolster trust among patients, healthcare providers, and regulatory authorities, facilitating widespread adoption and scalability of our technology.

Cultural and Market Acceptance: Cultural attitudes toward digital health solutions vary globally, influencing adoption rates and engagement. The prize's resources will help us understand and address these cultural nuances, ensuring our solution resonates with diverse patient populations. By providing insights into global healthcare ecosystems, the prize will guide us in tailoring our approach to meet specific cultural preferences and healthcare delivery models.

Market Expansion and Impact: The CMT Mobile App 2.0, powered by integrated video capture in GRIN, has the potential to disrupt the rare disease management landscape. It introduces a patient-centered approach that enhances diagnostic accuracy, facilitates remote access to specialized care, and fosters patient empowerment. The Amgen Prize will catalyze broader positive impacts by supporting our efforts to scale globally, thereby influencing healthcare practices and policies related to rare diseases.

In conclusion, The Amgen Prize is instrumental in advancing our mission to revolutionize CMT care through innovative technology. By addressing financial, technical, legal, cultural, and market barriers, the prize will empower us to accelerate the development and adoption of our solution, ultimately improving outcomes for patients with CMT worldwide. Through enhanced data collection, improved access to specialized care, and strengthened research collaborations, our initiative aims to set new standards in rare disease management, paving the way for future innovations in global healthcare.

Allison Moore leads this solution, the HNF, and GRIN with an unwavering commitment to advancing patient care, research, and advocacy for the CMT community. Her personal connection to CMT, battling the disease herself alongside her family, fuels her dedication. Over the past 22 years, she has emerged as a beacon of hope for the 2.6 million people worldwide affected by CMT.

Since 2007, Allison has spearheaded patient-focused research, initiating the groundbreaking study "What It’s Like to Live with CMT," which illuminates the daily impact of CMT. Recognizing the pivotal role of patient-reported data in advancing patient care and research, Allison and her team launched GRIN in 2013. GRIN is the most comprehensive repository of CMT patient-reported data globally, gathering longitudinal insights from over 4,500 patients across 60 countries.

Under Allison's leadership, GRIN has forged collaborations with academia, government, and industry, leading to the establishment of HNF’s research arm, TRIAD (Therapeutic Research in Accelerated Discovery). Through TRIAD, Allison initiates projects that not only push scientific boundaries but also directly enhance patient care and quality of life.

In the era of AI and digital health technologies, Allison has pioneered the CMT Mobile app pilot study, breaking down barriers to clinical trials by capturing real-time clinical outcomes via patients' smartphones. 

Jason Collquit, founder of Matrix, the platform supporting GRIN, brings over 24 years of healthcare and life sciences technology expertise to the team. His extensive experience spans from startups to global corporations, always focused on transforming healthcare dynamics to better serve patients. Jason’s direct engagement with patients, caregivers, and healthcare professionals provides deep insights into the needs of the CMT community. His commitment to rare diseases is evident through Matrix’s initiatives at Across, where innovative technology like video integration enhances specialized care access and improves patient outcomes globally. This approach not only benefits the CMT community but also leverages Matrix’s network of 95 advocacy groups, addressing 237 rare diseases across 126 countries and supporting communication in 8 languages. 

Dr. Kayla Cornett, an NIH-funded postdoctoral research fellow at the University of Sydney, rounds out the team. With expertise in clinical outcome measurement for pediatric neuromuscular diseases and over 35 publications, Dr. Cornett’s work focuses on developing reliable assessment tools and training evaluators to ensure CMT patients receive comprehensive care and are trial-ready. 

Together, Allison Moore, Jason Collquit, and Dr. Kayla Cornett form a dedicated team driving CMT research and patient care forward. Their combined expertise and commitment to holistic wellness empower the CMT community, delivering transformative healthcare impacts.

Our solution is guided by the input, ideas, and agendas of the CMT community. We actively engage patients, caregivers, regulatory agencies, and advocacy groups to understand their challenges and priorities. This ongoing dialogue shapes our research priorities and programmatic approaches to ensure our resources meet real-world needs. By centering our design and implementation processes around the voices and priorities of the CMT community, we foster a collaborative environment where research, advocacy, and patient care converge to create lasting positive impacts.

Our year one impact goals focus on integrating video capture into GRIN using the CMT Mobile App 2.0 to transform the lives of individuals affected by CMT by improving patient care, diagnosis, and access to successful clinical trials. We aim to develop, test, and integrate our app with enhanced protocols into the GRIN/Matrix platform, validating its capabilities and scalability potential across multiple disease groups. We will offer significant value to users by ensuring an intuitive user experience, encouraging engagement and retention, and exploring a sustainable monetization model. 

The specific metrics and methods we’ll use include:

1. Monitor key development milestones, including design, testing phases, and final integration into the GRIN/Matrix platform.

1. Collect feedback from beta testers to evaluate the app's performance, usability, and scalability.

1. Conduct regular surveys to gather user feedback on the app’s interface, ease of use, and overall satisfaction.

1. Track user engagement metrics such as the number of active users, session duration, and feature utilization rates.

1. Measure the time to develop and deploy the app, ensuring efficiency and adherence to timelines.

Over the next five years, we’ll focus on scaling and optimizing data collection, correlation, and analysis, testing and evaluating scalability potential by testing it across different user groups, languages, and geographic regions. Additionally, we’ll aim to improve patient care protocols, diagnosis, surgery, bracing, PT, and OT, by integrating GRIN and CMT Mobile App usage into clinical practice, starting with HNF’s 26+ CMT Centers of Excellence.

The specific metrics and methods we’ll use include:

1. Track user demographics and growth metrics across regions and languages.

2. Monitor Data Volume and Quality with regular checks and feedback:

3. Review Data Correlation Reports and Compare Analysis against real-world outcomes:

4. Monitor app performance and gather feedback to improve scalability and usability.

Improving Patient Care Protocols

1. Measure adoption rates and usage frequency at HNF’s 26+ CMT Centers of Excellence.

2. Evaluate improvements in diagnosis, surgical outcomes, bracing, PT/OT, and health metrics like mobility and pain.

3. Measure protocol compliance rates and gather feedback on protocol effectiveness.

4. Track training completion and monitor support requests for additional training needs.

Overall Impact Measurement

1. Conduct surveys and interviews and measure Net Promoter Score (NPS).

1. Track long-term health outcomes and compare with traditional care recipients.

1. Assess data quality for phenotype-genotype correlation and track diagnostic accuracy improvements.

1. Monitor revenue from researchers and industry, and conduct cost-benefit analysis.

1. Measure average diagnosis time and efficiency improvements before and after app implementation.

1. Evaluate clinical outcomes and monitor patient retention rates.

By tracking these metrics, we’ll assess the impact of our solution, ensuring we improve patient care protocols and expand the effectiveness of our technology. Our strategies involve leveraging existing resources, expanding outreach, and fostering collaborations with key CMT stakeholders. By integrating video capture and patient feedback into GRIN via the CMT Mobile App 2.0, we aim to create a transformative impact on the CMT community and other rare disease groups, improving access to care, enhancing quality of life, and advancing research toward effective treatments.

Theory of Change for Integrating Video Capture into GRIN using the CMT Mobile App 2.0

Ultimate Outcome:

Improved health and quality of life for individuals with CMT and other rare diseases.

Program Goal:

Integrating video capture technology into GRIN using the CMT Mobile App 2.0 will enhance the diagnosis, treatment, and overall management of CMT.

Activities:

1. Develop and Enhance the CMT Mobile App:

   - Design and develop enhanced protocols and video capture features to improve user experience and data quality.

   - Test and refine the app with beta users to ensure functionality and ease of use.

2. Train and Educate Patients and Caregivers:

   - Create and distribute video tutorials and guides to educate patients and caregivers on how to use the app.

   - Provide ongoing technical support and troubleshooting assistance to ensure a smooth user experience.

3. Integrate Video Data into GRIN:

   - Incorporate video data into the GRIN platform to enhance the registry’s data collection and analysis capabilities.

   - Ensure compliance with HIPAA and IRB standards to protect patient confidentiality and data integrity.

4. Collaborate with Healthcare Providers:

   - Partner with HNF’s 26+ CMT Centers of Excellence to promote the app’s use in clinical practice.

   - Work with healthcare providers to integrate video data into patient care plans and treatment protocols.

Outputs:

1. Enhanced CMT Mobile App:

   - The updated CMT Mobile App 2.0 with video capture capabilities is available for download.

2. Educational Materials and Support:

   - Video tutorials, guides, and support resources are distributed to patients and caregivers.

3. Video Data Integration:

   - Patient video data is securely uploaded and integrated into the GRIN platform.

4. Clinical Adoption:

   - CMT Centers of Excellence Healthcare providers use the app in their clinical practice.

Outcomes:

1. Short-Term Outcomes:

   - Increased user engagement and satisfaction with the CMT Mobile App.

   - Improved accuracy and comprehensiveness of patient data in GRIN.

   - Enhanced knowledge and skills among patients and caregivers in using the app.

2. Intermediate Outcomes:

   - More accurate and timely diagnoses of CMT and related neuropathies.

   - Improved treatment adjustments and outcomes through real-time video monitoring.

   - Increased participation in clinical trials due to easier recruitment and monitoring.

3. Long-Term Outcomes:

   - Improved patient health outcomes through personalized and effective treatment plans.

   - Enhanced research capabilities and discoveries in the field of neuropathies.

   - Broader access to specialized care and support for patients worldwide.

Evidence Supporting the Theory of Change:

1. Third-Party Research: Studies show that telemedicine and video monitoring can significantly improve patient outcomes and accessibility to care.

2. Pilot Feedback: Initial feedback from the CMT Mobile App pilot indicated high user engagement and identified areas for improvement, demonstrating the app’s potential impact.

3. Data from Interviews: Interviews with patients, caregivers, and healthcare providers reveal a strong need for better diagnostic tools and more personalized care, which the app aims to address.

5 full-time

4 contractors

4 years

At HNF, we deeply value diversity, equity, inclusion and accessibility (DEIA) as critical components of our mission to serve the CMT community. Our commitment extends to creating an environment where everyone is welcomed, respected, supported, and valued.

Our leadership team embodies diversity and lived experience. Allison Moore, our founder, and 75% of her staff have CMT, of 90% are women. Together, they lead with personal insights into the disease, providing an authentic and empathetic perspective. Jason Collquit, founder of Matrix and rare disease patient, brings extensive personal and professional experience in healthcare technology, focusing on enhancing patient outcomes globally. Dr. Kayla Cornett, with expertise in pediatric neuromuscular diseases, enriches our research capabilities and clinical understanding.

HNF's full-time staff includes members who identify as disabled, representing various ethnicities, socioeconomic backgrounds, and LGBTQIA+ identities. This personal connection to CMT ensures we understand our community's unique challenges. Our staff’s lived experiences are invaluable, providing authentic insights that drive our mission forward.

We strive to eliminate barriers to opportunity. Our equitable hiring practices actively seek to include individuals from diverse backgrounds. We are committed to fair, transparent hiring and career advancement processes that provide all team members with equal access to opportunities for growth and leadership. Accessibility is central to our workplace, enabling staff with disabilities to excel without compromising their well-being.

Inclusion is a foundational value at HNF and GRIN. We aim to create a work environment where all voices are heard, respected, and valued. This inclusive approach extends to our interactions with the broader CMT community, ensuring that diverse perspectives shape our programs and initiatives. We actively seek stakeholder feedback to inform our work and foster partnerships promoting inclusive healthcare and research practices.

To achieve our DEIA goals, we have implemented several key initiatives:

1. Diverse Recruitment and Hiring: We recruit from diverse talent pools and ensure that our hiring processes are inclusive, aiming to reflect the diversity of the CMT community in our staff.

2. Training and Development: We offer DEIA training to enhance awareness and sensitivity among our team members and promote a respectful and inclusive workplace culture.

3. Community Engagement: We engage with diverse stakeholders within the CMT community to understand their needs and integrate their feedback into our programs. Our staff's personal experiences with CMT provide unique insights that inform this engagement.

4. Leadership Commitment: Our leadership champions DEIA initiatives and ensures accountability for creating an inclusive environment. This commitment ensures DEIA principles are integrated into all aspects of our organization.

5. Evaluation and Improvement: We regularly assess our DEIA efforts, seek feedback from team members, and adapt our strategies to improve our practices continuously, remaining responsive to the evolving needs of our community and staff.

Through these efforts, we aim to exceed MIT Solve's expectations and create a culture that celebrates diversity, promotes equity, and fosters inclusion. Our dedication to DEIA is integral to our mission of advancing research, improving patient care, and advocating for the global CMT community.

Our hybrid business model integrates free services for patients and caregivers, collaborative partnerships, open-source data for academic research, and revenue through licensing fees for clinical trials and pharmaceutical research.

 Value Proposition

- Patients and Families: HNF provides educational resources, support programs, and tools to empower individuals living with CMT. These resources enhance the quality of life and foster community support by helping patients and families navigate CMT's challenges.

- Researchers and Healthcare Providers: GRIN offers access to a comprehensive repository of patient-reported data, essential for understanding disease progression and developing new treatments for CMT.

 Products and Services

- Educational and Support Resources: HNF offers online materials, CMT-Connect webinars, and in-person Patient-Focused Summits to educate and support patients and their families.

- Genetic Testing and Health Monitoring: The CMT Genie program provides access to virtual genetic testing and personalized health insights via GRIN, allowing patients to track symptoms and receive customized advice.

- Data Repository and Research Tools: GRIN maintains an open-source data repository for academic research, advancing knowledge and treatments for CMT and other neuropathies.

- CMT Biobank 

 Service Delivery Channels

Online Platforms: Key services are accessible through HNF’s website and GRIN’s data registry, ensuring global reach.

- In-Person Events: HNF conducts workshops, seminars, and support group meetings to offer direct support and promote community engagement.

- Collaborative Partnerships: HNF and GRIN work with academic institutions, healthcare providers, and industry partners to extend their impact and integrate the latest research and technologies.

 Revenue Streams

- Licensing for Clinical Trials: Pharmaceutical companies and researchers can license GRIN’s patient-reported data for a fee, supporting research and ensuring sustainability.

- Grants and Donations: Funding from agencies, foundations, and donors support HNF’s educational programs, research initiatives, and patient services.

- Sponsorships: Corporate sponsorships provide additional funding and visibility within the CMT community.

 Open Source and Licensing Model

- Open Source for Academic Research: GRIN’s data is freely available to academic researchers, promoting knowledge sharing and advancing the understanding of CMT.

- Licensing for Commercial Use: Pharmaceutical companies pay fees to access GRIN’s data for clinical trials and drug development, generating revenue and accelerating treatment creation for CMT patients.

 Community-Centric Approach

Patient Involvement: HNF and GRIN are deeply embedded in the CMT community, with many staff members living with CMT themselves. This ensures that patient needs and perspectives are central to all initiatives.

- Accessibility and Inclusivity: Services are designed to be accessible to individuals from diverse backgrounds, including those with disabilities and various ethnicities and socioeconomic statuses.

 Impact and Outcomes

- Improved Patient Outcomes: HNF’s comprehensive support and tools help patients manage their conditions more effectively and improve their quality of life.

- Research Advancements: GRIN’s open-source data and collaboration with researchers facilitate significant advancements in understanding and treating CMT.

- Sustainable Operations: Licensing fees and diverse funding streams ensure that HNF can continue providing valuable services to the CMT community.

We operate with an accessible, inclusive, innovative approach sustained by open-source and licensed data access.

To ensure long-term financial sustainability, our approach combines diverse revenue streams, strategic investments, and leveraging existing donor relationships aligned with proven social enterprise business models. Our plan integrates sustained donations and grants, licensing fees, strategic acquisitions, and venture capital engagements.

 Revenue Streams

1. Sustained Donations and Grants

   - Initial Funding Success: We piloted a study with donor funding of $130,000, demonstrating our ability to attract substantial donations and validating our research approach, leading to further donor confidence.

   - Government and Institutional Grants: We plan to secure funding through Small Business Innovation Research (SBIR) and Small Business Technology Transfer (STTR) programs, with the expertise of our team leads and mentors on this project to support our ongoing research and initiatives.

2. Licensing Fees for Clinical Trials and Pharmaceutical Research

   - Data Licensing: GRIN offers a repository of patient-reported data licensed to pharmaceutical companies and clinical researchers. This data is crucial for conducting clinical trials and developing new treatments, providing a steady revenue stream.

   - Evidence of Success: We established multiple licensing agreements with major pharmaceutical companies, generating substantial revenue that supports our operational costs and research activities.

3. Strategic Investments and Venture Capital Engagements

   - Health Tech Investments: HNF invests in health tech companies, diversifying our revenue sources and ensuring long-term financial growth. These investments support innovation in the healthcare sector, particularly related to CMT disease.

   - Venture Capital Role: HNF plans to enter the venture capital space, funding emerging health tech startups. This will generate returns on investment and foster advancements in technologies benefiting the CMT and Rare Disease community.

4. Collaborative Partnerships and Service Contracts

   - Partnerships with Health Tech Companies: By collaborating with well-established health tech firms, we integrate cutting-edge technologies into our services, enhancing their value and appeal. These partnerships often come with service contracts contributing to our revenue.

   - Service Contracts with Governments: We aim to expand our reach by securing service contracts with government entities, particularly in healthcare sectors focused on rare diseases and genetic disorders.

 Evidence of Success

- Clinical Trial Readiness and Feasibility Study: We conducted a clinical trial readiness program, building out a feasibility study. This initiative attracted further funding and demonstrated our capability to manage and execute large-scale research projects.

- Grants and Donor Contributions: We have a proven track record of securing significant grants from various governmental and institutional sources. Our ability to consistently attract donor contributions highlights the trust and credibility we have established within the community and among stakeholders.

- Revenue from Licensing Agreements: The revenue generated from our licensing agreements with pharmaceutical companies underscores the value and demand for our data repository. These agreements are a testament to the quality and relevance of our research data in the clinical and pharmaceutical industries.

Our robust financial sustainability plan leverages donations, grants, licensing fees, strategic investments, and venture capital engagements. This diversified approach ensures we cover our expected expenses and positions us for growth and innovation. Our successful track record proves our financial viability and potential for sustained success.