Session: | Session Focus: | Topics may include, but are not limited to: |
1: Linking Natural History to Basic Science | Clinical session covering the SHARE Registry, CCHS diagnosis, management, and treatment, alongside research presentations that directly inform patient care. | Associated conditions Clinical outcomes Mortality Wearables, home monitoring, or telehealth Diagnostic improvements that could impact care protocols Research aspects of autonomic dysfunction Investigations that test potential interventions in preclinical models |
2: Physiology of Breathing | Science session covering neurobiological mechanisms of respiratory control, focusing on neural circuits and regulatory pathways, integrated with clinical perspectives on diagnosing and managing respiratory dysfunction. | Control of breathing Respiratory circuit research Glial cell respiratory research Regulatory pathways in breathing Hypoxia and CO2 sensing deficits Modulation of apnea severity Autonomic issues Long-term morbidity Linking respiratory control to optimal clinical management Integrating respiratory physiology with developmental and neurocognitive outcomes Sleep-state vulnerability in hypoventilation nREM/REM patterns in CCHS |
3: PHOX2B and Molecular Mechanisms of CCHS | Science session, with clinical insight, on genetic and neural underpinnings of CCHS, with emphasis on how PHOX2B can impact RTN development and function, and the autonomic control of breathing. | PHOX2B’s role in RTN and other respiratory brain region development PHOX2B’s role in autonomic nervous system development and function Molecular mechanism of RTN and breathing regulation Downstream impact of PHOX2B mutations Regulation of PHOX2B gene expression and its target promoters Neural circuit mapping and connectivity in CCHS models (overlap with session 4) Molecular genetics of CCHS associated PHOX2B variants Links between molecular findings, clinical phenotypes, and management strategies (genotype-phenotype correlation and its predictive impact) Uncommon and/or somatic PHOX2B variants in CCHS PHOX2B target genes and their roles in the autonomous nervous system Novel technologies to address the molecular pathogenesis of CCHS (multi-omic approaches, single-cell analysis, etc) |
4: Insights from CCHS Disease Models | Research into experimental and computational models that replicate CCHS pathology to evaluate targeted treatments, together with clinical perspectives on designing comprehensive, patient-centered care plans. | Stem cell or iPSC-derived neurons modeling respiratory and autonomic circuits PHOX2B mutant cell lines to study molecular and cellular mechanisms Mouse models with PHOX2B mutations Neurodevelopmental studies of RTN and other respiratory centers in animal models Organoid work Integration of multi-omic data to model disease mechanisms Gene therapy or molecular pathway interventions in cellular or animal models Linking model findings to potential clinical trials or treatment strategies High-throughput screening of drugs in cellular models of CCHS Defining clinical benchmarks for experimental models Genotype-phenotype correlations to inform experimental models for clinical significance Characterization of new disease models |
5: Advances in CCHS Therapeutic Strategies | Spotlight on cutting-edge foundational and translational research, with clinical insights, all guiding evidence-based treatment development. | Molecular therapies in CCHS Gene therapies in CCHS Identifying therapeutic targets Evaluating approaches that move science toward treatment Biomarker discovery for disease stratification and treatment response Preclinical testing of candidate therapies in CCHS models Drug repurposing and early-stage therapeutic development Limitations of existing treatments Disease burden and Quality of Life studies to provide context for treatment Discovery of new treatment candidates Development of novel therapeutics |
6: Disease Management and Holistic Care | A clinical session, with complimentary research topics, on a holistic, multidisciplinary approach to CCHS care addressing respiratory and non-respiratory challenges to improve quality of life and long-term outcomes. | Case studies linking phenotype to genotype Home care & living with carers Organization of CCHS services Transitions – pregnancy, independent living Social challenges; consequences of a chronic medical condition Ambulatory monitoring Wearables, home monitoring, or telehealth Differential effects of PHOX2B mutations on ANS function Enteric nervous system function, microbiome contributions Implications for GI symptoms and nutrition Risk stratification for anesthesia use or surgery |
