Establishing a Clinic for Patients with COL4A1 and COL4A2 Variants: A Multidisciplinary Approach ^†

The Gould Syndrome Clinic at University of California, San Francisco, founded in spring 2024, demonstrates a multidisciplinary model for patient-centered care focused on individuals with COL4A1 and COL4A2 variants. The clinic offers in-person and telehealth visits, emphasizes collaboration with local providers including neurosurgeons and ophthalmologists, and allows for patient contributions to research. In the year since the clinic’s inception, 20 patients from 18 families (ages 11 months to 25 years) were seen, with a range of neurological complications including stroke (60%), cerebral palsy (75%), epilepsy (55%), and developmental differences (100%).

Non-neurologic issues were also common, notably ophthalmologic abnormalities (70%), gastrointestinal dysmotility (60%), and obstructive sleep apnea (40%). Common themes included diagnostic delays, care complexity, and hope for increased provider awareness. Challenges included geographic dispersion, insurance barriers, and integration into existing clinical workflows. Moving forward, the clinic aims to expand its natural history registry (which has currently enrolled over 50 participants), collect biospecimens research including clinical trial development, and deepen understanding of underexplored systemic complications. Collaboration with other institutions and broader provider education remain priorities.

Patient voices emphasize the need for informed care, preventive strategies, and continued research into disease-modifying therapies. The initiative highlights the importance of comprehensive, specialized care for this rare and complex condition with clinical implications across the lifespan.