ADOPTING ORPHAN DISEASES RARE INTERSTITIAL LUNG DISEASES

adoptingorphandiseaseskapak

FUTURE PERSPECTIVE ON RARE INTERSTITIAL LUNG DISEASES

Maria Molina Molina

Bellvitge University Hospital, Department of Respiratory, Barcelona, Spain

Molina Molina M. Future Perspective on Rare Interstitial Lung Diseases. In: Altinisik G, McCormack FX, editors. Adopting Orphan Diseases: Rare Interstitial Lung Diseases. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.269-275.

ABSTRACT

Rare and ultra-rare interstitial lung diseases (ILDs) comprise a heterogeneous group of entities. The diagnostic journey for patients with rare ILD is frequently delayed and complex. Assessment of clinical, radiological, functional and histopathological features in the multidisciplinary expert committee may be challenging due to complex imaging patterns, non-specific clinical symptoms, or inconclusive biopsies. Furthermore, research advances in these rare diseases remain limited in most cases resulting in a poor understanding of pathogenesis, natural history and drug-regulation targeting. However, several emerging trends suggest an optimistic future for patient care and research in this group.

Digital platforms enabling data sharing across international networks can facilitate centralized expert review, which is essential for ultra-rare conditions. Advances in imaging analytics, including artificial intelligence (AI)-based interpretation of high-resolution computed tomography (HRCT), promise to reduce diagnostic delays and enhance accuracy in ultra-rare ILDs. The application of high-throughput omics technologies (genomics, transcriptomics, proteomics and metabolomics) can transform the diagnostic landscape of these rare ILDs. Proper molecular characterization will facilitate and optimize diagnosis even in early stages of disease, the identification of endotypes and phenotypes, and therapeutic decisions. Ultrarare-ILD therapeutic options are frequently off-label or supported by low-level research evidence. However, precision medicine is slowly transforming the landscape of these ILDs, targeting pathway-specific origins.

Ultra-rare ILDs are entering a new era of diagnostic and therapeutic precision. The merging of molecular insights, AI-driven tools, and collaborative networking is improving diagnostic awareness and certainty and accelerating the translation of science in clinical practice. Patient priorities and access to care and clinical research remain incompletely addressed.. However, the future holds promise for achieving these unmet needs and also conducting more individualized, precise and pathogenesis-driven patient care.

Keywords: Interstitial lung diseases; Rare interstitial lung diseases; Future perspectives; Omic technologies; Molecular biology; Artificial intelligence driven tools

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