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Working With Scientists

• Discussion of basic science approaches for therapy development for rare disease
• Discussion of feasibility of clinical trials for rare diseases
• Defining outcome measures for trials
• Natural history studies to lay ground work for treatment trials
• Working with IRB and Scientific Review to Launch Trials

Working with Industry

• Identification of UCSF experts in particular diseases to partner for clinical trials
• Natural history studies as precursor to treatment trials
• Development of clinical outcome measures for trials
• Clinical trial sites in San Francisco (Mission Bay) and Oakland already engaged in gene therapy trials
• Experienced investigators, experts in rare diseases, and research coordinators

Examples of Recent and Ongoing Clinical Trials

• A Study of AAV9 Gene Therapy in Participants With Canavan Disease
• A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients
• CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)
• Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency by MR-Guided Direct Delivery of AAV2-AADC to Midbrain Dopaminergic Neurons. 
  (Investigator-Initiated)
• Phase I/II trial of RGX-121 for the treatment of patients up to 5 years old diagnosed with Mucopolysaccharidosis Type II (MPS II) (REGENXBIO)
• Phase 1/2 Study with ETV:IDS (DNL310) in Patients with Hunter Syndrome (MPS II) (Denali)
• A Prospective Open-Label Study to Assess Efficacy and Safety of RT001 in Subjects with Infantile Neuroaxonal Dystrophy. (Retrotope).
• An Open-Label Study of Oral NNZ-2591 in Pitt Hopkins Syndrome (PTHS-001) (PTHS-001)
• An Open-Label Study of Oral NNZ-2591 in Prader-Willi Syndrome (PWS-001) (PWS-001)