1. Building A Discovery Platform to Advance
Research, Diagnosis,
Care and Cures

2. Initial Goals
• Track the natural history and clinical outcomes
• Improve and inform clinical practice and patient care quality
• Expand evidence-based research on genetic, molecular and
physiological basis
• Provide a framework for recruitment, participation/surveillance in/of
clinical trials and treatment development
• Inform stakeholder decision-making through tracking patient, family
and caregiver experiences

3. State-of-the-Art Platform
To collect, analyze and disseminate information on demographics,
genotype/phenotype, natural history, health outcomes and clinical care.
• Phased (“building block”) approach as resources, insights, network, technology and
healthcare/IT standards evolve
• Interoperable, open-standards-based foundation to ensure collaboration,
transferability, integration and secure communication across systems and
applications as needed
• Organized system to collect uniform data to evaluate specified outcomes based on
observational study methods
• Store, retrieve and disseminate data collected on identifiable individuals
• Leverage best-practices to maximize validity and representativeness of data
• Capitalize on functionality/insights to serve as clinician training tool

4. PCDF Registry: Discovery Platform To Advance Research, Diagnoses, Care & Cures
• Annual Reports
• Program Dev
• CRCN Progress
• New Insights
Single Point of Truth/
Central Repository for
ClinROs, PROs,
Research Studies,
Integration with
External/Third Party
Applications
Quality
Control
Patients (incl. families, caregivers):
PROs, Care Insights
Clinicians (PCDF Clinical and
Research Centers): ClinROs
Researchers, Industry (Studies,
RxTx Dev) : Approved Access
Clinical, Aggregate
Insights
Consent, Surveys,
Education, Engagement
Recruitment
Patient Insights
Reporting
Analytics
Genotype/
Phenotype
Genetics
Biobank
EMR/EHR
Clinical Tr
Mgmt
Registry
(Others)
For more information on the PCDF Foundation or our Clinical and Research Centers Network (CRCN), please visit www.PCDFoundation.org.

5. • Basic Demographics and Vital Statistics
1. Where are patients located?
2. What does the patient group look like?
3. What are the vital statistics including life expectance, age of
transplant/disability/death, etc.?
• Longitudinal Natural History and Clinical Outcomes
1. How does the disease progress over time?
2. What microbes are most commonly seen?
3. When does lung damage occur? Under what circumstances?
4. What’s the status of hearing loss and sinus disease?
5. Are these issues genotype-dependent?
Questions To Answer (Samples)

6. • Clinical Practice Improvement
1. What are the care patterns?
2. What are the clinical practices and associated outcomes?
3. What therapies are most effective?
4. Where are the gaps/disparities in care/access?
5. What are the attributes of patients for whom therapy appears most effective?
6. How do centers’ outcomes compare by patient population, treatments, etc.?
• Research Insights
1. What are the areas where research is needed to fill gaps in evidence?
2. What are the genotype-phenotype correlations?
3. What can we translate from the lab into therapeutics? For which mutations?
4. Are there ways to classify mutations functionally/clinically for targeted
therapies
Questions To Answer (cont’d)

7. • Clinical Trials and Treatment Pipeline
1. Where do therapeutic targets come from?
2. What is the clinical effectiveness of X? For which mutation(s)?
3. What is the comparative effectiveness of X and Y? for which mutation(s)?
4. What side effects are patients experiencing with X?
• Informed Patient, Care team, Public Health and Quality of Life
1. What’s the rate of misdiagnosis?
2. What factors delay a correct diagnosis?
3. How long does it take to diagnose a patient?
4. How often are patients treated for the wrong condition?
5. How does my health compare with the health of others with PCD?
6. What can I do to improve my health?
7. What factors influence prognosis and quality of life (PROs)?
Questions To Answer (cont’d)

8. Questions, Comments,
Collaborative Opportunities
www.pcdfoundation.org
Carey Kauffman, PCDF
VP, Board Member
e: cakauffman@pcdfoundation.org
t: +1 404.840.7151