The RTW Charitable Foundation will provide grants of up to $150,000 per year to develop therapies for ultra-rare diseases, including aromatic l-amino acid decarboxylase (AADC) deficiency.
The foundation, which supports research that may not have strong commercial support, provides capital, human resources and logistical support to help scientists accelerate such projects. They also help with patient advocacy, disease awareness, and support for patients and their families.
Projects that fall under funding priorities include those that develop therapies for diseases caused by defects in single genes, or monogenetic diseases, which affect fewer than 2,000 people, such as AADC deficiency, which counts approximately 120 cases reported so far.
AADC deficiency is caused by mutations in the CDD gene, which codes for the enzyme, aromatic L-amino acid decarboxylase, necessary for the production of dopamine and serotonin. These two nerve cell signaling molecules, called neurotransmitters, are involved in a variety of biological processes, from digestion to mood regulation and movement coordination.
Symptoms of AADC deficiency can vary widely from person to person, but in most cases symptoms are severe and occur within the first year of life.
Affected children typically do not reach developmental milestones such as crawling, sitting, crawling, or talking, and have abnormal muscle tone, movement disorders, or uncontrolled muscle twitching. Almost all patients with AADC deficiency experience oculogyric crises when their gaze is fixed upwards.
Funding from the Foundation will go to rare diseases with high unmet medical need, with limited or no standard of care or other treatment options. Currently, there is no cure for AADC deficiency, but a few treatments are available to relieve some of the symptoms and improve quality of life.
The foundation will also consider funding proposals for diseases with limited ongoing commercial programs for the development of treatments. With AADC deficiency, the Ohio State University College of Medicine is working to advance directed gene therapy, and PTC Therapeutics is the only company sponsoring the PTC-AADC gene therapy program, which is developing a treatment designed to replace faulty gene therapy. CDD gene with a functional copy and restore the production of AADC enzymes.
Additional funding factors include a high benefit/risk ratio to justify the proposed treatment, whether there is a clinically significant outcome that can be measured as a clinical trial outcome, and whether there is a therapeutic window to reach the target. results. Finally, there must be a viable route to recruiting patients for a first-in-man clinical study.
Researchers who believe their work may lead to the development of new therapies can follow this link and send a brief description of their project. Applications are accepted on a rolling basis.