Therapeutic Matching and Discovery Initiative

We believe that everyone deserves access to the best possible care and treatments, regardless of their financial status or where they live.

The need for therapies is urgent.

More than 95% of the ~10,000 known rare diseases do not have an FDA-approved therapy.
Rare diseases affect ~30,000,000 individuals in the United States and 300,000,000 worldwide.
~80% of ultra-rare diseases are caused by gene code differences (vs. environmental, infectious, or autoimmune factors).
~50% of ultra-rare diseases occur in children, most of whom die by age 5 years.

The Current State of Therapeutics and Treatments for Ultra-rare Disease Patients

Navigating the landscape of therapeutic development for ultra-rare diseases is nearly impossible. Historically, industry interest in this realm has favored diseases with at least 500 identified patients, leaving those with fewer cases without options. Research endeavors for conditions affecting under 500 individuals often rely on limited patient and family foundation resources. In the pursuit of solutions, ultra-rare disease patients often turn to innovative approaches like allele-specific oligonucleotides (ASOs) or other gene-targeted therapies. However, the high costs associated with these groundbreaking treatments and their restricted accessibility raise profound equity concerns, underscoring the urgent need for therapeutic matching services to bridge these gaps and ensure equitable access to potentially life-changing interventions.

The UDNF’s Vision for a Therapy Matching and Discovery Initiative

The UDNF envisions a world where everyone with an ultra-rare disease has access to the best possible care, including access to innovative therapies. We collaborate closely with the Undiagnosed Diseases Network (UDN) to advance patient-centered research, enabling undiagnosed patients and families to get the answers they desperately need that will lead to therapeutic discoveries. We believe that this can be achieved through a combination of strategies including:

An objective, scientifically-based and patient-centered resource: The UDNF will be this resource for any patient or patient community who has received a diagnosis and wishes to pursue therapies. This resource will provide information about the latest therapies, as well as guidance on how to access them.
A disease-agnostic pipeline for therapeutic development: The UDNF will support the development of a disease-agnostic pipeline for therapeutic development to identify promising therapies for ultra-rare diseases, regardless of the number of patients affected. A holistic approach to determining which therapies are best suited for patients will be taken. This will include providing expert, longitudinal advice for affected patients and families to ensure therapeutic discovery implementation. Patients/families will be given a summary of therapeutic discovery options, names of interested clinicians, investigators, and academic medical centers, and strategies for funding clinical trials.
Addressing equity issues in access to therapies: The UDNF will advocate for equitable access to therapies for ultra-rare disease patients. This includes working with payers to ensure that these therapies are covered and working with manufacturers to reduce the cost of these therapies.

The Benefits of the Therapy Matching and Discovery Initiative

Using the mechanistic characterization of UDN participants, we will support efforts to bring together affected patients/families, expert clinicians, investigators experienced with the underlying mechanism, individuals with experience in multiple genomic rescue strategies (genome editing, gene replacement therapy, antisense oligonucleotides, repurposing FDA-approved drugs, small molecule development), and representatives from pharmaceutical companies, the FDA, and patient advocacy groups. To date, this pilot effort has generated 12 therapeutic road maps. With more funding, we could accelerate this effort even faster and broader. The UDNF’s Therapy Matching and Discovery Initiative will have a number of benefits for patients with ultra-rare diseases, including:

Increased access to innovative therapies: The UDNF will help patients to identify and access the latest innovative therapies.
Reduced costs of therapies: The UDNF will work with payers and manufacturers to reduce the cost of therapies for ultra-rare diseases.
Improved quality of life: The UDNF will help patients to improve their quality of life by providing them with access to the best possible care.

The Resources Needed to Bring the Vision to Life

The UDNF needs your support to bring its vision for a Therapy Matching and Discovery Initiative to life. Pharmaceutical, health insurance, and device companies and donors are invited to participate through both in kind and financial contributions to the UDNF.

Thank you for your support! Together, we can make a difference in the lives of patients with ultra-rare diseases.