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Hermansky-Pudlak Syndrome is characterized by a bleeding disorder as well as pulmonary fibrosis. Invasive procedures such as a lung biopsy are contraindicated due to bleeding and bronchoscopy is not without risk. Finding a biomarker would reduce the necessity for more invasive data collection while improving outcomes.
Accelerating the research to find suitable viral vectors and delivery systems to inhale gene therapy deeply into the lungs. Distal therapy is important for several fatal lung diseases. This is urgent and critical research.
Strategies and infrastructure to support clinical trials in rare diseases must go further in the development of critical partnerships with advocacy organizations. These partnerships must be formalized and based on models that help to accelerate the research.
Is pulmonary fibrosis due to genetic/heritable causes different than 'sporadic' 'idiopathic' pulmonary fibrosis? With findings in genetics and the emphasis on precision medicine the issue of pulmonary fibrosis being idiopathic will diminish with time. Treatment for this fatal disease should be accessible to those who have pulmonary fibrosis with no other alternatives.