activities · 16
what they do
direct service · 8
- Alport Patient Registry Patient Registry and Data MappingLaunches and administers the ASF Alport Patient Registry, an online platform that collects self-reported information from Alport syndrome patients to support research and community needs.
- Community Engagement Events Patient & Caregiver Community EngagementHosts virtual and in-person events, including educational webinars and support meetings, to connect patients and families with resources and each other.
- Community Support and Engagement Patient & Caregiver Community EngagementThe organization fosters a supportive community through virtual and in-person meetings, including "Direct Connect" events, specialized virtual meetings on topics like men's/women's health and living organ donation, and a moderated Facebook Support Group with over 3,400 members. They also provide monthly e-newsletters with updates and host Q&A sessions with medical experts.
- Facilitating Patient Support NetworksModerates a private Facebook Support Group with over 3,400 members and establishes patient subcommittees to identify care gaps and suggest resources, fostering a community for patients and families affected by Alport syndrome.
- Hosting Virtual and In-Person Community Meetings Patient & Caregiver Community EngagementOrganizes and hosts "Direct Connect" virtual meetings via Zoom and in-person events for Alport patients and family members to connect, share experiences, ask questions, and receive updates on research and care, covering topics such as new diagnoses, men's and women's health, living organ donation, and medications.
- Patient Education and Resource Provision Chronic Disease Self-Management EducationThe organization creates and distributes educational materials, including patient guides, fast facts, videos, and tip sheets, to help patients and families understand Alport syndrome, manage care, and navigate medical appointments. They also provide personalized messages with relevant resources to members.
- Patient Education and Support Chronic Disease Self-Management EducationProvides a variety of educational resources, including a patient guide, Fast Facts materials, and a monthly e-newsletter to support understanding and management of Alport syndrome.
- Providing Educational Resources and Information Chronic Disease Self-Management EducationCreates and distributes educational materials, including patient guides, fast facts, videos, and tip sheets, to inform patients, families, and medical professionals about Alport syndrome, its diagnosis, symptoms, treatment options, and management.
research · 6
- Alport Patient Registry Management Patient Registry and Data MappingThe organization launched and administers the ASF Alport Patient Registry, an online platform that collects self-reported information from Alport syndrome patients through surveys, including genetic test results, audiograms, and historical lab data, to support research and understanding of the disease.
- Alport Syndrome Research Funding and Promotion Rare Disease Research Funding and CoordinationThe organization invests in and promotes global research projects on Alport syndrome, having invested over $3 million since 2010. They support ongoing human clinical trials, collaborate with researchers, and have established a research program that has led to groundbreaking knowledge and clinical trials.
- Funding Alport Syndrome Research Rare Disease Research Funding and CoordinationInvests over $3 million in Alport Syndrome research projects globally, awarding grants to researchers for studies on genetics, pathology, and potential treatments for the disease.
- Maintaining an Alport Patient Registry Patient Registry and Data MappingOperates and sustains the ASF Alport Patient Registry, an online platform that collects self-reported information, including genetic test results and audiograms, from Alport syndrome patients in the U.S. to support research and understanding of the disease.
- Promoting and Supporting Clinical Trials Rare Disease Research Funding and CoordinationSupports and promotes ongoing human clinical trials for Alport syndrome treatments and partners with industry for clinical trial development, contributing to the advancement of new therapies.
- Research Support and Advocacy Rare Disease Research Funding and CoordinationInvests in and promotes research initiatives for Alport syndrome, including funding studies and supporting clinical trials to advance treatment options.
capacity building · 2
- Capacity Building for Healthcare Professionals Chronic Disease Self-Management EducationRaises awareness and provides education for medical professionals through webinars, conferences, and centralized research information to improve care for Alport syndrome patients.
- Professional Education and Awareness Chronic Disease Self-Management EducationThe organization raises awareness and provides education for medical professionals and researchers by centralizing research information, participating in medical and rare disease conferences, hosting educational webinars, and partnering with industry for clinical trial development.
strategies · 12
how they think
Theories of action extracted from this org's own source material. Click any to see the full field of orgs running the same approach.
- Advance Alport Syndrome Research and Treatment Development disease research and treatment developmentThe organization advances research to better understand Alport syndrome, develop new treatments, and find a potential cure. This includes engaging the community in research activities, collecting patient data through registries, and fostering an active and engaged research community through network building and collaboration.
- Advance research through biological understanding and targeted investment disease research and treatment developmentThe organization advances research on Alport syndrome by focusing on the genetic and molecular basis of the disease—specifically mutations in type IV collagen and basement membrane dysfunction—and by directing significant resources toward research and treatment development, including funding and fostering scientific collaboration.
- Advancing Alport Syndrome Research and Treatment Development disease research and treatment developmentThe organization advances research to better understand Alport syndrome, develop new treatments, and work towards a potential cure. This includes direct investment in research, fostering an active and engaged research community, and building an international network of researchers to encourage collaboration.
- Community-Driven Content and Awareness community-driven content developmentThe organization engages its community, including "Website Watchers" and volunteers, to develop and review content, ensuring it meets patient needs. It also supports individuals in raising awareness by providing assistance with story ideas and talking points for sharing personal experiences in local media and community outlets, leveraging skill-based volunteering and personal storytelling.
- Empower Patients through Education, Advocacy, and Self-Advocacy patient empowermentThe organization empowers patients by providing education, encouraging self-advocacy in healthcare decisions, and advocating for patient rights. This includes explaining the genetic and molecular basis of Alport syndrome and supporting patients in sharing their stories and raising awareness.
- Empower patients through education, self-advocacy, and support systems patient empowermentThe foundation promotes early diagnosis and treatment adherence while fostering patient empowerment through education, encouragement of active healthcare participation, and building personal support systems, reinforcing patient agency in managing Alport syndrome.
- Engage Community and Volunteers for Organizational Development community engagementThe organization actively engages its community and volunteers in various capacities, including reviewing website content, developing resources, and supporting overall organizational efforts in research, patient support, and advocacy.
- Engage patients and community in research and knowledge generation community engagement in researchThe foundation leverages patient participation in research through registries, clinical trials, and targeted outreach (e.g., for rare manifestations like macular holes), while ensuring data privacy through deidentification, to generate high-quality, patient-centered research data that accelerates understanding and treatment development.
- Engaging the Patient Community in Research patient_engagement_for_researchThe organization actively engages the Alport syndrome community in research activities, including participation in patient registries, clinical trials, and international research initiatives. This involves encouraging patients to contribute data and insights, such as those with macular holes for eye-centric research, and ensuring patient data privacy through deidentification.
- Foster collaboration and community leadership in awareness and content development community-driven content developmentThe organization builds networks among researchers, patients, and volunteers, enabling skill-based contributions, personal storytelling, and community-led awareness campaigns, while co-developing educational resources with medical and patient input to ensure relevance and accuracy.
- Promote Early Intervention to Slow Disease Progression early interventionThe organization emphasizes early diagnosis and medication to slow the progression of Alport syndrome and preserve native kidney function for as long as possible.
- Promoting Early Intervention and Patient Empowerment early interventionThe organization emphasizes early diagnosis and medication to slow the progression of Alport syndrome and preserve native kidney function. It also empowers patients through self-advocacy, encouraging active participation in healthcare decisions, asking questions, and building support systems, while advocating for patient rights and involvement.
named programs · 3
what they call their work
Advocacy Initiatives
Engages patients in advocacy efforts to influence healthcare policies and raise awareness about Alport syndrome.
Alport Patient Registry
Collects data from patients to aid researchers in studying trends and patterns related to Alport syndrome.
Educational Resources
Provides tools and content for patients and families to better understand Alport syndrome.
relationships · 33
who they work with
- Caitlin, Carter, MD Partner — Member of the ASF Medical Advisory Committee who addresses patient inquiries regarding pediatric Alport treatment medications.
- Dr. A. Cecil Alport Government — Names the syndrome after British physician Dr. A. Cecil Alport, who first described the condition in 1927.
- Dr. Bradley Warady Partner — Member of the ASF Medical Advisory Committee and collaborated on creating pediatric care educational resources and Q&A sessions.
- Dr. Bradley Warady Partner — Member of the ASF Medical Advisory Committee who explains the importance of the patient registry.
- Emerging Leadership Council Partner — Contributes to the development of the Patient Guide.
- Facebook Partner — Uses Facebook to host a moderated support group for the Alport syndrome community.
- GOFARR Laboratory for Organ Regenerative Research and Cell Therapeutics in Urology at Children’s Hospital Los Angeles Partner — Received two grants from NIH for Alport syndrome research, with Dr. Laura Perin (ASF Scientific Advisory Research Network and funding recipient) as Co-Principal Investigator.
- Jackson Laboratory Partner — Awarded a grant to Dr. Ron Korstanje, who leads a research team at The Jackson Laboratory.
- Kidney Foundation of Canada Funder — Co-funded research projects.
- Kumamoto University Partner — Awarded a grant to Dr. Hirofumi Kai from Kumamoto University.
- Medical Advisory Committee Partner — Provides guidance for tip sheets.
- Medical Advisory Committee Partner — Provides input for the development of the Patient Guide.
- Monash University Partner — Awarded a grant to Dr. Sharon Ricardo from Monash University.
- NEPTUNE research consortium Partner — Sponsors a multi-year natural history study of U.S. Alport syndrome patients within this consortium.
- National Institute of Diabetes and Digestive and Kidney Disease Funder — Awarded a $1.49M grant to Dr. Ron Korstanje's team at The Jackson Laboratory to study Alport syndrome genetics.
- National Institutes of Health (NIH) Funder — Awarded two grants to the GOFARR Laboratory at Children's Hospital Los Angeles for Alport syndrome research.
- Royal Children’s Hospital Partner — Funded research by Dr. Melissa Little from Royal Children’s Hospital.
- Saban Research Institute at Children‘s Hospital Los Angeles Partner — Awarded a grant to Dr. Stefano Da Sacco from the Saban Research Institute at Children‘s Hospital Los Angeles.
- Scientific Advisory Research Network Partner — Collaborates to create surveys and gather insights on genetic variants.
- Scientific Advisory Research Network Partner — Helps shape a well-connected landscape of researchers internationally.
- Texas A&M University Partner — Funded research led by Dr. Mary Nabity from Texas A&M University.
- The Jackson Laboratory Partner — Dr. Ron Korstanje, a member of ASF’s Scientific Advisory Research Network, leads a research team here that received a grant to study Alport syndrome genetics.
- The University of Manchester Partner — Funded research by Dr. Rachel Lennon from The University of Manchester.
- University Medical Centre Göttingen Partner — Awarded a grant to Dr. Oliver Gross from the University Medical Centre Göttingen.
- University of Cyprus Partner — Awarded a grant to Dr. Constantinos Deltas from the University of Cyprus.
- University of Melbourne Partner — Awarded a grant to Dr. Judy Savige from the University of Melbourne.
- University of Miami Partner — Awarded a grant to Dr. Alessia Fornoni from the University of Miami.
- University of Minnesota Partner — Funded research by Drs. Peter Santi and Cliff Kashtan from the University of Minnesota.
- University of Siena Partner — Funded research led by Dr. Alessandra Renieri from the University of Siena.
- University of Toronto Partner — Awarded a grant to Dr. James Scholey from the University of Toronto.
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