PCD Support GroupInternational Conference on Inherited Disorders of Muco-Ciliary Clearance <br />Primary Ciliary Dyskinesi...
Value of a Patient Group & a Global Coalition<br />Support & Awareness<br />Identify and support each other<br />Establish...
Areas that Need Attention: Diagnosis<br />PCD is frequently missed in those who do have it<br />Ciliary biopsy ‘gold stand...
Areas that Need Attention: Misconceptions<br />Fiction<br />PCD is a mild, non-progressive disorder<br />Consequences of P...
Areas that Need Attention: Treatment Guidelines<br />Creation & Use of Treatment Guidelines for PCD (in US)<br />Standard ...
Goal: 	Accelerate development of/access to better therapies & cures<br />How: 	Establish ‘Path to Clinical Trials’ to enco...
Beyond PCD: PCD in the Larger Context<br />Where we are today: <br />Many patients do not understand value of current rese...
PCD is a Ciliopathy: What’s That?<br />A newly discovered class of diverse human genetic diseases arising from defects of ...
Brain<br />Respiratory<br />Reproductive Tract<br />MOTILE<br />(9+2)<br />Embryo<br />(Nodal<br />cilium)<br />MOTILE<br ...
‘Ciliopathies’ Make PCD Important to More People<br />Chronic obstructive pulmonary disease (COPD)<br />3rd leading cause ...
Summary & Next Steps<br />Together, we can address these initiatives - and create a brighter future for PCD patients today...
Appendix: Kidney Disease Survey<br />Overall: <br /><ul><li>  57% 	No kidney disease
  33% 	Kidney disease in patient 	or blood relative</li></ul>Of those 33%:<br /><ul><li>  33% 	Medullary sponge kidney
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Key Issues to Tackle to Build a Brighter Future for PCD Patients and Caregivers

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Identifies key challenges to overcome that will help people with primary ciliary dyskinesia (PCD) and other ciliopathies get the resources needed to improve the understanding of the disease, raise awareness about it, provide adequate and accessible treatments for it, improve diagnosis worldwide and ultimately greatly enhance the quality of life (and life span) of those affected by PCD.

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  • Very small sample size (only 33 respondents) and self-reported. Done just out of curiosity—not meant to have scientific merit.
  • Very small sample size and self-reported. Done just out of curiosity—not meant to have scientific merit.
  • Key Issues to Tackle to Build a Brighter Future for PCD Patients and Caregivers

    1. 1. PCD Support GroupInternational Conference on Inherited Disorders of Muco-Ciliary Clearance <br />Primary Ciliary Dyskinesia<br />Kartagener Syndrome<br />Immotile Cilia Syndrome<br />
    2. 2. Value of a Patient Group & a Global Coalition<br />Support & Awareness<br />Identify and support each other<br />Establish a source of credible information for patients and caregivers<br />Work with researchers, healthcare providers and other organizations to improve the lives of people with PCD and associated disorders<br />Raise awareness among patients, healthcare professionals and the general public<br />Advocacy<br />Connecting with governmental / elected officials <br />Advocate for access to treatments / research funding<br />Research<br />Help establish research priorities<br />Provide a centralized, validated “pool” of patients interested in participating in research<br />Funding<br />Maximize potential and impact of dollars donated<br />
    3. 3. Areas that Need Attention: Diagnosis<br />PCD is frequently missed in those who do have it<br />Ciliary biopsy ‘gold standard,’ but often poorly done<br />High misdiagnosis (@30%) skew statistics & precludes PCD from clinical trials critical for treatment/cure research & dev<br />Solution? A genetic test. For now? Unmask the Faces of PCD!<br />
    4. 4. Areas that Need Attention: Misconceptions<br />Fiction<br />PCD is a mild, non-progressive disorder<br />Consequences of PCD only affect older patients<br />It is impossible to confirm the diagnosis of PCD<br />Treatments already exist: They are the same as for cystic fibrosis (CF)<br />PCD is incredibly rare and only affects a few thousand people<br />Situs inversus is a benign condition<br />‘Normal’ life expectancy<br />Fact<br />Progressive disorder that can result in serious lung disease<br />Infants can have severe lung disease; Neonatal mortality<br />Centers of excellence, etc. can accurately diagnose<br />PCD and CF are different genetic disorders. No PCD research to date. <br />PCD is poorly understood and under-reported (Est. 400K WW) <br />Not necessarily; Leads to delayed diagnosis<br />Initial data indicates otherwise*<br />What we need: Documentation of basic statistics to dispel these myths<br />*See Appendix <br />
    5. 5. Areas that Need Attention: Treatment Guidelines<br />Creation & Use of Treatment Guidelines for PCD (in US)<br />Standard of care varies dramatically from site to site<br />Like diagnosis, treatment is driven by private insurance<br />Reports of adults with no sputum or lung function tests<br />No published guidelines = insufficient / no insurance coverage<br />Unused guidelines = no benefit of published guidelines <br />Access to Appropriate Care<br />‘Off-label’ drug use becoming a bigger problem<br />TOBI (US$4,800/mo) & Cayston (US$5,200/mo)<br />Average 3 calls/wk on this issue alone<br />Adults with PCD have trouble finding pulmonologists familiar with disorders like PCD, CF and bronchiectasis<br />Many adult CF pulmonary clinics will not see PCD patients<br />
    6. 6. Goal: Accelerate development of/access to better therapies & cures<br />How: Establish ‘Path to Clinical Trials’ to encourage pharmas to (co-) sponsor trials<br />Why: Typical multi-center drug trials cost between US$2-40M<br />What: Two key components include:<br />Centers of Excellence*<br />Provide diagnosis & treatment<br />Center in every major city or at least in each state in the US<br />*9 current sites: Participate in the GDMCC**, a clinical research network<br />focusing on the PCD, CF, pseudohypoaldosteronism and other conditions<br />related to mucociliary clearance<br />A Registry<br />Clinical, medical records-based database<br />Ideally global, clinic-based, but may need to start with something regional, patient-driven<br />Centers of Excellence to be conduit for PCD registry<br />PCDF Proposed Solutions: Path to Clinical Trials<br />**Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)<br />
    7. 7. Beyond PCD: PCD in the Larger Context<br />Where we are today: <br />Many patients do not understand value of current research efforts<br />Results/purpose not clear<br />Limited communication and collaboration between motile and non-motile ciliary researchers<br />Researchers focus on their specific diseases<br />Little perspective and joint effort at related to the grouping of the ciliary diseases<br />We are missing opportunities to collectively understand the building blocks of diseases where cilia play a key role - and interplay b/t them<br />Where we want to be:<br />Immediate: Outline research in progress & where it ‘fits’ (i.e. goals for outcome, ultimate application - basic info vs. quality of life)<br />Ideal: In a position to define & rollout a research roadmap based on shared priorities to study ciliary function & structure<br />Joint efforts could push research forward faster and solve more problems for more people<br />
    8. 8. PCD is a Ciliopathy: What’s That?<br />A newly discovered class of diverse human genetic diseases arising from defects of ciliary function and/or structure <br />*US Estimates <br />
    9. 9. Brain<br />Respiratory<br />Reproductive Tract<br />MOTILE<br />(9+2)<br />Embryo<br />(Nodal<br />cilium)<br />MOTILE<br />(9+0)<br />“CILIUM”<br />“Primary”<br />(sensory)<br />NON-MOTILE<br />(9+0)<br />Kidney<br />tubule<br />Bile<br />duct<br />Pancreatic<br />duct<br />Bone<br />Cartilage<br />Eye<br />(Photoreceptor)<br />*Fliegauf, 2007, Nat Rev Mol Cell Biol<br />Ciliopathies Affect Many Organ Systems <br />
    10. 10. ‘Ciliopathies’ Make PCD Important to More People<br />Chronic obstructive pulmonary disease (COPD)<br />3rd leading cause of death in US*<br />Affects 24M (US only), 12M diagnosed**<br />Chronic bronchitis, emphysema, bronchiectasis<br />Polycystic kidney disease (PKD)<br />One of the most common life-threatening genetic diseases<br />Affects over 600K (US only), 12.5M (Global)<br />Fluid-filled cysts develop in the kidneys<br />*Centers for Disease Control and Prevention (CDC), 2010; **COPD Foundation<br />Heart Defects<br />Congenital defects<br />Heterotaxy<br />Processes Related to Cilia Function:<br />Onconogenesis & formation of tumors and cysts<br />Skeletal & connective tissue formation<br />Obesity<br />Diabetes<br /> Why? They provide a way to better understand:<br />Help for PCD<br />could mean help<br />for COPD, PKD<br />and many other<br />diseases <br />
    11. 11. Summary & Next Steps<br />Together, we can address these initiatives - and create a brighter future for PCD patients today & tomorrow . . . <br />
    12. 12. Appendix: Kidney Disease Survey<br />Overall: <br /><ul><li> 57% No kidney disease
    13. 13. 33% Kidney disease in patient or blood relative</li></ul>Of those 33%:<br /><ul><li> 33% Medullary sponge kidney
    14. 14. 33% Small, malformed or </li></ul> under-developed kidneys<br /><ul><li> 30% Polycystic kidney disease (PKD)
    15. 15. 3.3% Other</li></ul>Recent survey* on kidney disease in PCD patients & relatives<br />*Very small sample size (only 33 respondents) and self-reported. Not meant to have scientific merit, but curious about potential to further investigate<br />
    16. 16. Appendix: Life Expectancy Survey<br />Survey* on life expectancy in PCD patients & relatives<br />Literature still says ‘normal life expectancy,’ but informal mortality data suggests this is not always the case. This misperception leads to a dismissive attitude about PCD in the medical community. <br />We are hearing more and more reports of neonatal mortality, often even when PCD is suspected, due to dismissing the seriousness of PCD-related complications.<br />Average age at death from this small sample survey:<br /><ul><li>32.6 years (includes infants)
    17. 17. 45.6 years (not including infants)</li></ul>*Very small sample size and self-reported. Not meant to have scientific merit, but curious about potential to further investigate<br />

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