A Phase Ib, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Orally Administered DF-003 in ROSAH Syndrome Patients
The purpose of this study is to evaluate the safety and tolerability of DF-003 in retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome patients.
• Sufficient understanding of the purpose and procedures required for the study.
• Body mass index (BMI) of 18.0 to 35.0 kg/m2, inclusive.
• Genetic testing for ALPK1 mutations that has been shown to be associated with ROSAH syndrome (e.g. T237M or Y254C, or T237A mutations).
• Signs of uveitis (anterior and/or posterior) in the eye (e.g. macula edema, optic nerve edema, retinal vasculitis, or retinal vascular leakage).
• Patients must be deemed healthy except for diagnosis of ROSAH syndrome and its clinical manifestation.
• Patients must be at least 18 years of age but no older than 65 years of age at the time of Screening.