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...
PCD Foundation (PCDF) Mission Statement<br />To promote research, increase public awareness, and provide information and s...
PCDF Organizational Structure<br />
PCDF Membership & Communications<br />Where we are today:<br />Mailing list: 836 patients (self-identified) & family membe...
PCDF Meetings<br />1 Annual Scheduled Meeting: Annual Family Event<br />Usually 2 days in the summer <br />Open to patient...
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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  • We may have a bigger challenge in the US because of how our health system is set up (have to go where private insurance tells them to go). I know in the UK there are 3 sites and everyone is filtered there. Up to 30% are misdiagnosed based; It is missed even with neonatal respiratory distress.There are currently no accepted standards for processing or analyzing biopsy slides. In the US, there are hundreds of labs that attempt to do this, each using their own standards. It is inefficient, costly and sloppy. The rate of misdiagnosis in the US bears this out. We believe that a comprehensive genetic test is the only solution to this problem, especially given the recent discoveries of PCD genes that have no ultrastructural correlate (have PCD, but no way to tell it - no damage or change to cilia even through they have it). Cilia look fine, move fine, but they have disease (situs, etc.). As an organization we support current efforts at gene identification and development of more comprehensive genetic assay and this is one of our funding priorities as a foundation, should we ever be in a position to help fund research.It is very difficult to move forward with clinical trials
  • Good place to add patient experiences like Lori’s and yours (and many, many others)! Babies and adults are dying because of the dismissiveness of the disease
  • There are no published guidelines in the US. We talk to adults who have never had a sputum or lung function test and they have advanced lung disease. They have been told they had asthma and don’t bother to do these tests.In areas where private insurance is the standard = problems with getting access to care.Insurance companies are looking for ways to do cost shifting and one of those ways is eliminating. Here for the treatment of pseudomonas -2 approved drugs. TOBI is $4,800/month, Cayston is $5,200/month. Gentamycin is supposed to a lower cost. IV drugs - have preservatives and not meant to go into lungs. Smaller molecules and no preservatives. They do give it as an inhaler. needs to be reformulated to be approved here. They will do it and add cost so it will be as costly as the others. Financial implications: $5K/month; 2 or 3 kids it is impossible; using oral antibiotic and getting inadequate care. Michele Manion is working with her Senator to address these issues, but it is an uphill battle. The only solution is legislative - have to come up with a way to protect patients despite what the FDA and insurance companies want. In CA, there was a case . Because they aren’t approved drugs, the pharma programs because don’t want to take on the liability. Average battle 3 times/week.
  • Here’s our proposed solution. Discussed with the CF Foundation. Need to accomplish these goals by establishing a PTCT . . . ; need to collect data, be global, come from clinics, but may need to start . . . ; would like it to support a bio-specimen repositoryModel suggested to us by CF Foundation. Could work in whole or part internationally (i.e. could collaborate on the registry issue, if not centers of excellence which already exist in the UK, Germany, Canada and other non-US countries.) A typical multi-center drug trial, which is the ‘gold standard’ for proving the effectiveness of new therapies, costs between $2 million and $40 million dollars. Very few patient advocacy groups have the financial wherewithal to cover these costs, so the goal is to encourage the pharma industry to sponsor or co-sponsor drug trials. Before investing millions of dollars, however, pharma companies want a patient population to be:Well-characterizedCorrectly diagnosed Of sufficient numbers to provide credible dataEasily recruited and eager to participate in studiesThe Path to Clinical Trials Program (PTCT) provides a framework for the PCD community to overcome some of our obstacles while satisfying the requirements of clinical trial sponsors. The goal is to accelerate access to clinical trials and the development of better therapies/cures for patients with PCD. There are two major components to the PTCT program: 1.) A clinical, medical records-based patient registry and 2.) A network of clinical centers for the diagnosis and treatment of PCD. The registry will provide long-term, reliable data on:Natural history of PCDBasic demographic features of the illness, such as: Average age at diagnosis Life expectancy Acquisition of bronchiectasis Prevalence of Pseudomonas/NTM infectionsDisease progressionImpact of various interventionsAssociated conditionsRegistry data will give pharma companies a working knowledge of the PCD community that can help in identifying gaps in current standard treatments and potential targets for therapy. Additionally, entry into the registry will be done by qualified centers so registry participants will represent a reliably diagnosed and easily accessible patient body for recruitment into trials. To facilitate patient entrance into the registry, PCD centers of excellence for diagnosis and treatment will be established, based on the CF Center model with integrated care from a number of specialists. These centers will use standard operating procedures for diagnosis, as established by the PCDF in collaboration with our medical advisors, and will agree to guidelines for treatment and data collection per the registry protocol. These centers will serve as referral clinics for PCD patients throughout North America and will actively participate with the PCDF in providing patient care, data collection and recruitment for clinical trials. The Genetic Disorders Of Mucociliary Clearance Consortium is a network of nine North American Centers that are collaborating in the diagnostic testing, genetic studies, and clinical trials in patients with impairments in mucociliary clearance, focusing on primary ciliary dyskinesia, cystic fibrosis, and pseudohypoaldosteronism. Additionally, GDMCC studies target related clinical conditions believed to be due to impaired mucociliary clearance including idiopathic bronchiectasis and infection with non-tuberculous mycobacterial (NTM) organisms. Ultimately, we hope to better define the clinical pathogenesis of these important airway diseases, improve or expand diagnostic testing, and develop new and effective treatments.Lead site: University of North Carolina at Chapel Hill (UNC)Participating sites: * Washington University in St. Louis (Missouri) * University of Washington (Seattle, Washington) * University of Colorado, Denver Children&apos;s Hospital (Denver, Colorado) * The Hospital for Sick Children (Toronto, Ontario, Canada) * Stanford University (Palo Alto, California) * National Institute for Allergy and Infectious Diseases (Bethesda, MD) * St. Michael&apos;s Hospital (Toronto, Ontario, Canada) * National Jewish Health (Denver, Colorado)
  • 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. PCD Foundation (PCDF) Mission Statement<br />To promote research, increase public awareness, and provide information and support services for individuals with inherited ciliary disorders and their caregivers.<br />
    4. 4. PCDF Organizational Structure<br />
    5. 5. PCDF Membership & Communications<br />Where we are today:<br />Mailing list: 836 patients (self-identified) & family members<br />Contacts: 2057 including patients, family members, friends, vendors, physicians, researchers, etc. <br />Method: Email, social networking, other electronic means<br />Membership: No official requirements or dues<br />Where we want to go:<br />A patient registry<br />Based on actual diagnosis (not self-reported)<br />Automated vs. today’s manual data entry<br />Expanded mailing list & contacts<br />Increased frequency of communication<br />
    6. 6. PCDF Meetings<br />1 Annual Scheduled Meeting: Annual Family Event<br />Usually 2 days in the summer <br />Open to patients, family members, medical professionals & others interested in PCD<br />Speakers are experts in PCD who interact with families<br />Strong focus on education, but we have fun, too<br />This year: 15-16 July in Atlanta, GA. You are welcome!!<br />Ad hoc regional events (opportunistic)<br />Future Meeting Goals<br />Regional Education & Support Events<br />Scientific Meetings: Had 1 in St. Louis<br />Online Meetings & Teleconferences<br />
    7. 7. 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 />
    8. 8. 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 />
    9. 9. 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 />
    10. 10. 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 />
    11. 11. 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 />
    12. 12. 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 />
    13. 13. 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 />
    14. 14. ‘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 />
    15. 15. Summary & Next Steps<br />Together, we can address these initiatives - and create a brighter future for PCD patients today & tomorrow . . . <br />
    16. 16. Appendix: Kidney Disease Survey<br />Overall: <br /><ul><li> 57% No kidney disease
    17. 17. 33% Kidney disease in patient or blood relative</li></ul>Of those 33%:<br /><ul><li> 33% Medullary sponge kidney
    18. 18. 33% Small, malformed or </li></ul> under-developed kidneys<br /><ul><li> 30% Polycystic kidney disease (PKD)
    19. 19. 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 />
    20. 20. 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)
    21. 21. 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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