We want to advocate, educate and be heralders of this syndrome by creating awareness and identifying new patients to build and strengthen our community.
We aspire to build a biobank or repository for iPsc Cell Lines with various variants. We also wish to invest in a custom mouse or/and zebrafish.
We desire to fund Preclinical research to study disease and disease mechanisms. Discovery of therapeutic approaches such as drug repurposing, gene therapy, ASO’s (Antisense Oligonucleotides) and development of small molecule drugs.
We will work towards the collection of patient data through natural history studies. Natural History studies help researchers in understanding how variants are expressed differently in each patient. This knowledge aids in the development of new drugs.
We want to provide resources to facilitate collaboration to expedite the process to treatment. We are working hard to encourage collaboration among these groups can often result in efficiencies by preventing duplication of efforts.
Clinical trials for the treatment of rare diseases are expensive and essential. We want to be ready to support research organizations in their effort to evaluate the safety and preliminary effectiveness of a treatment and the amount of the medication needed in a small group of patients. If preliminary trials show viability we want to be ready to fund Phase II clinical trials which include a larger group of patients to further establish the effectiveness and safety of the drug. FDA & EMA reviews findings from research and clinical trials to approve treatment.