PCD Foundation Program Overview

1. Program Area 1: Research
2. Program Area 2: Education
3. Program Area 3: Advocacy and Support

Program Area 1: RESEARCH

Program Goals

Program Activities

• Indirect Support:

  The PCD Foundation supports funding to investigators and institutions that comes from other organizations. This support includes endorsement letters for projects and/or individual investigators, development and dissemination of educational materials to the PCD community and encouraging PCD patient participation in endorsed projects.

  Financial support for and participation in research conferences related to topics of interest to the PCD community are another form of indirect support provided by the PCD Foundation.

  
  

• Direct Funding:

  A primary goal of the PCD Foundation is to fund research projects identified by our medical and scientific advisory boards and our patient community as priorities. We have identified five main areas for foundation support:

  
  

  1. Genetics and Genotype/Phenotype Correlations. Genes code for proteins, proteins are the building blocks of the cilium. Understanding the genetic processes involved in building and operating a cilium and its molecular motors will offer hope for advancements in diagnosis, therapeutic intervention and, eventually, a cure for PCD.

  2. Nitric oxide in PCD. People with PCD exhale extremely low levels of nasal nitric oxide. This well documented phenomenon in PCD is at odds with studies that demonstrate that NO levels rise in the presence of inflammation in other disorders. Although this phenomenon was first recognized more than a decade ago, the pathophysiology of low nasal NO in PCD is still not understood. Understanding the mechanism that leads to low nasal NO may provide clues to structural and functional impairments in PCD.

  3. Associated conditions. While most current clinical interest in PCD is related to respiratory manifestations of the disorder, we are aware that there are non-respiratory complications in PCD that are of great concern to the PCD community. It is not clear if these complications are related to ciliary proteins (see genetics) or are correlated in another fashion. Better understanding of these conditions could potentially offer therapeutic options for PCD patients. We also believe this information can be beneficial to understanding non-PCD respiratory disease and birth defects. Here are some examples of PCD-associated conditions:
     1. Conditions associated with ciliated epithelial tissues: polycystic kidney disease; cystic disorders of the pancreas and liver; hydrocephalus and ventriculomegaly.
     2. Conditions associated with ciliated non-epithelial tissues (e.g. retinitis pigmentosa)
     3. Conditions associated with GI function and nutritional status
     4. Conditions related to organ placement, formation and function

  4. Therapeutic interventions in PCD. As we progress to better understanding of the genetics and pathophysiology of PCD, it is likely that potential therapeutic targets will be identified. The PCD Foundation will support research in therapies that promise improved health outcomes and quality of life for individuals with PCD.

  5. Fertility issues in PCD. Many, but not all, males with PCD appear to be subfertile or infertile. This is thought to be due to defects in the structure and/or function of the sperm flagellum. However, recent evidence indicates that sperm motility in PCD males may be impaired even when the structure appears to be intact and dynein proteins are present. This interesting observation requires further research. Females with PCD may also have fertility issues, but the clinical picture is far less clear than with the males. There are anecdotal reports of increased risk for ectopic pregnancy and spontaneous abortion (miscarriage). Because the population is very small, however, it is unclear whether these anecdotal reports represent a true pattern of increased risk for PCD females. This is an area requiring further study. We would also like to pursue research into the role of IVF and other fertility intervention options for people with PCD.

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Program Area 2: EDUCATION

Program Goals

Program Activities

• Electronic Resources

  • Website (www.pcdfoundation.org) A dynamic, up-to-date website about PCD is one of the most effective and in- expensive methods we use to reach the PCD community. In keeping with our program goals, only information that be verified through peer-reviewed sources is included. The website is updated and maintained by a volunteer webmaster who is also PCD patient.

  • Materials Archive and Templates Most of the printed materials offered by the PCD Foundation are available online in our materials archive. Also available are templates for insurance letters, letters to teachers and schools and other documents that patients can download and edit for their personal use. Selected peer-reviewed articles and presentations from PCD educational conferences are also made available for educational use by patients.

  • Future goals for the website We want to offer an interactive resource for healthcare professionals that will feature video demonstrations of biopsy technique and slide preparation and an archive of typical pathology findings in biopsy slides and clinical imaging studies including lung and abdominal scans. Additionally, we want to offer a Spanish version of the site. These improvements are contingent on additional funding for bandwidth and for professional web development.

• Printed Materials

  The PCD Foundation publishes a variety of printed educational materials including:

  
  

  • “The Beat” Newsletter published several times each year and distributed both electronically and through mail delivery. In keeping with our goal to share accurate and up-to-date information, The Beat focuses on issues of concern to the PCD community and is subjected to rigorous patient and clinical review.

  • Informational Brochures, both general and targeted at specific topics or events.

  • Educational Booklet/Packets for distribution to specific PCD community subgroups (e.g. “Gunky Lungs and Bungee Boogers: A Kid’s Guide to PCD; new patient introduction packet).

  • Letter Archive Templates available for members of the PCD community to personalize, addressing issues such as insurance reimbursement for medical equipment and explanation of school concerns for children with PCD directed at teachers.

  • Patient Stories that highlight the real experiences of the PCD community.

  
  

• Educational Conferences

  • Family Education Day, an annual event that brings patients, researchers, physicians and others interested in up-to-date research and treatment options for PCD. The conference features clinical, scientific and patient-prepared presentations and is a wonderful opportunity for the PCD community to interact with pertinent medical professionals. It also provides an opportunity for families to meet face-to-face and develop a network to support one another.

  • Future Educational Conference Goals include adding an annual scientific conference on ciliopathies and the development of a speaker’s bureau to provide educational in-services on PCD to academic institutions and civic groups.

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Program Area 3: ADVOCACY and SUPPORT

Program Goals

Program Activities

• Raising Awareness

  Using local and national media, patient support networks and other public outlets, the PCD Foundation will create opportunities to increase awareness of PCD and the need for funding for research in PCD and other rare diseases. In addition, we will educate federal, state and local elected officials about issues of concern to individuals with PCD and other chronic illnesses using letter-writing campaigns and face-to-face meetings.

  
  

• Access to Care

  In order to live full and productive lives, people with PCD need:

  
  
  • Access to specialized health centers able to make the diagnosis and implement treatment,
  • Insurance coverage for necessary medication, equipment and therapies
  • Recognition of the special needs of the chronically ill and protection from educational or job-related bias due to their chronic, genetic condition

  The PCD Foundation provides services to address access to care issues including providing templates for letters to support insurance coverage or to appeal denials, maintaining a referral database of physicians familiar with the disorder, and petitioning for diagnostic codes and coverage for procedures specific to PCD.

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