MECHANISM-BASED RARE DISEASE COLLABORATION
Working together to unlock the potential of ROCK inhibitors for rare genetic disorders.
Rare genetic disorders are often developed one gene at a time, even when several disorders converge on the same druggable pathway. OPHN1 Foundation is organizing a collaborative effort to determine which disorders involve therapeutically relevant RhoA–ROCK dysregulation and whether shared testing, safety and regulatory infrastructure can accelerate responsible access to ROCK inhibitors.
The RhoA–ROCK–actin pathway
signals
ROCK1/2
dynamics
function
This diagram is intentionally simplified. Whether ROCK inhibition is appropriate depends on the direction, strength, and biological context of pathway dysregulation in each disorder.
WHY COLLABORATE?
One pathway. Shared infrastructure. Greater leverage.
Shared biology
Identify disorders with evidence of therapeutically relevant RhoA–ROCK dysregulation.
Stronger science
Pool expertise, disease models, assays, and data while reducing duplication.
Better safety path
Build shared pediatric safety, pharmacology, and biomarker strategies.
Regulatory efficiency
Explore common protocols, data standards, and responsible access pathways.
Greater impact
Give small organizations a stronger collective voice with researchers, funders, and industry.
OUR APPROACH
From pathway hypothesis to responsible development
Identify disorders
Assess gene function, pathway direction, and disease-specific rationale.
Generate evidence
Prioritize models, target-engagement assays, and translational biomarkers.
Build shared infrastructure
Develop reusable safety, outcomes, data, and governance frameworks.
Pursue access and trials
Evaluate expanded access, early-phase studies, and other regulatory routes.
Improve lives
Accelerate careful testing of treatments for the people most likely to benefit.
Who can participate?
Patient organizations
Contribute disease knowledge, family priorities, registries, and scientific relationships.
For organizations →Researchers and clinicians
Help evaluate pathway evidence, models, biomarkers, safety, and study design.
For researchers →Industry and partners
Support drug supply, development strategy, data access, funding, and scalable infrastructure.
Partner with us →FOUNDING WORKING GROUP