When the PCDF was incorporated in 2002, the creation of clinical centers that would function as primary sites for diagnosis, care, research, and registry entry were the focal point of our plan. So it is with tremendous excitement that we can now announce the official launch of our PCD Clinical Care Centers initiative with a kickoff meeting that was held in California on November 2!
Meeting Highlights
Our clinical centers program is modeled after the successful program of the cystic fibrosis community. The CF Foundation has been very supportive of our efforts and provided meeting space for us at their annual research meeting this month to take advantage of the pulmonologists who were in attendance for the CF meeting. The meeting was attended by about 45 pulmonologists representing 20-25 different institutions.
We started with a PCDF (Michele Manion and Carey Kauffman) introduction of the PCDF and identifying what PCD patients need:
The 3 A’s
?Better Awareness: Delayed/missed diagnosis; Improved Availability: to care, expertise and support
(no published standards, insurance denials, etc.)
?Improved Availability: To care, expertise and support (no published standards, insurance denials,
etc.)
?Access: to research – the key to improving quality of life and providing the means to find a cure
We then proposed the solution to the 3 A’s:
?‘A Path to Clinical Trials” which includes PCD Clinical Centers and a clinician-reported registry. Clinical trials that provide actual evidence to support the treatments used in PCD are the best way for people with PCD to have access to effective therapies and to participate in the search for a cure. The best way to get these trials done with a small, dispersed patient group is to create clinical centers to serve as a focal point for care and data collection.
Dr.’s Leigh, Davis and Knowles from UNC presented compelling evidence from the current GDMCC studies to demonstrate that now is the time to organize PCD clinical centers:
?Tremendous advances in understanding of PCD from the data collected in our national study and
internationally.
?Unprecedented interest in cilia-related disorders and the overlap between PCD and disorders of
non-motile cilia
?Better (improving) diagnostic capabilities will lead to rapid PCD population growth, including:
--Refined clinical phenotype* data emerging from GDMCC studies
-- Recognition that serious lung disease requiring aggressive management develops early in PCD
--Accelerated pace of identification of PCD--causing genetic mutations
? Tremendous support and interest from top clinicians and researchers in the US and abroad
Meeting Outcome and Next Steps
We received a very enthusiastic response from attendees and are moving forward with this initiative. The first step was to set up a communications portal for the clinical centers project on our website. This site will provide important updates for both the medical and PCD patient communities. Please check back often, as this is an evolving program.
Second step is to identify centers that are willing/able to move forward right away that have the necessary diagnostic capability (i.e. access to EM, nasal NO and/or other technologies now required for diagnosis). We will be working with centers that do not currently have these abilities, as well, to ensure that we have PCD clinical centers strategically placed around North America for PCD patients.
How You Can Get Involved
There is a lot of work ahead of us, but this is an incredibly exciting time for the PCD community! Dr. Knowles described this initiative as a ‘watershed’ moment for PCD that will dramatically improve diagnosis, care and outcomes in PCD. This is the biggest undertaking in the history of the PCDF and we are doing it with limited resources---both human and financial. We will need ‘all hands on deck’ to make this dream a reality. Here are ways you can get involved:
?Support the centers in your region as they are set up.
--Participate in research projects
--Join the registry
--Work with your local physician to collaborate with the center
?Engage your personal network in PCD education and fundraising activities
--Make sure your friends, families, business associates, etc. understand how critically important
these centers are for improving the lives of people with PCD
?Volunteer as we set up working committees for the PCDF: We have incredible volunteers and
requests daily from others who want to help the PCDF grow. This involvement is critical, since we
have no full-time employees and most of the work we have done is being performed as part-time
contracted labor or by volunteers who actually have to make a living elsewhere in addition to what
they do for the PCDF. We are working on creating a structure so it is easier for those who wish
to be involved in the growth of the PCDF to do so. In fact, we are actively recruiting someone
from the community who would be willing to serve as a volunteer coordinator. If you are
interested in this role or would like to volunteer in another capacity, please contact us at
*Phenotype is the physical expression of your genetic code. For example, if your genetic code includes a PCD mutation on DNAH5 (which codes for an outer dynein arm protein), the expression of that code—your phenotype—would be defective outer dynein arms leading to impaired mucociliary clearance with subsequent chronic infections of the ears, nose and sinuses and possibly to situs defects.
When the PCDF was incorporated in 2002, the creation of clinical centers that would function as primary sites for diagnosis, care, research, and registry entry were the focal point of our plan. So it is with tremendous excitement that we can now announce the official launch of our PCD Clinical Care Centers initiative with a kickoff meeting that was held in California on November 2!
Meeting Highlights
Our clinical centers program is modeled after the successful program of the cystic fibrosis community. The CF Foundation has been very supportive of our efforts and provided meeting space for us at their annual research meeting this month to take advantage of the pulmonologists who were in attendance for the CF meeting. The meeting was attended by about 45 pulmonologists representing 20-25 different institutions.
We started with a PCDF (Michele Manion and Carey Kauffman) introduction of the PCDF and identifying what PCD patients need:
The 3 A’s
- Better Awareness: Delayed/missed diagnosis
- Improved Availability: to care, expertise and support (no published standards, insurance denials, etc.)
- Access: to research – the key to improving quality of life and providing the means to find a cure
We then proposed the solution to the 3 A’s:
A Path to Clinical Trials, which includes PCD Clinical Centers and a clinician-reported registry. Clinical trials providing evidence to support the treatments used in PCD are the best way for people with PCD to have access to effective therapies and to participate in the search for a cure. The best way to get these trials done with a small, dispersed patient group is to create clinical centers to serve as a focal point for care and data collection.
Dr.’s Leigh, Davis and Knowles from UNC presented compelling evidence from the current GDMCC studies to demonstrate that now is the time to organize PCD clinical centers:
- Tremendous advances in understanding of PCD from the data collected in our national study and internationally
- Unprecedented interest in cilia-related disorders and the overlap between PCD and disorders of non-motile cilia
- Better (improving) diagnostic capabilities will lead to rapid PCD population growth, including:
--Refined clinical phenotype* data emerging from GDMCC studies and the recognition that serious lung disease requiring aggressive management develops early in PCD
--Accelerated pace of identification of PCD-causing genetic mutations
- Tremendous support and interest from top clinicians and researchers in the US and abroad
Meeting Outcome and Next Steps
We received a very enthusiastic response from attendees and are moving forward with this initiative. The first step was to set up a communications portal for the clinical centers project on our website. This site will provide important updates for both the medical and PCD patient communities. Please check back often, as this is an evolving program.
The second step is to identify centers that are willing/able to move forward right away that have the necessary diagnostic capability (i.e. access to EM, nasal NO and/or other technologies now required for diagnosis). We will be working with centers that do not currently have these abilities, as well, to ensure that we have PCD clinical centers strategically placed around North America for PCD patients.
How You Can Get Involved!
There is a lot of work ahead of us, but this is an incredibly exciting time for the PCD community! Dr. Knowles described this initiative as a ‘watershed’ moment for PCD that will dramatically improve diagnosis, care and outcomes in PCD. This is the biggest undertaking in the history of the PCDF and we are doing it with limited resources--both human and financial. We will need ‘all hands on deck’ to make this dream a reality. Here are ways you can get involved:
- Support the centers in your region as they are set up
--Participate in research projects
--Join the registry as soon as it is available
--Work with your local physician to collaborate with the center
- Engage your personal network in PCD education and fundraising activities
--Make sure your friends, family members, business associates, etc. understand how critically important these centers are for improving the lives of people with PCD
- Volunteer as we set up working committees for the PCDF: We have incredible volunteers and requests daily from others who want to help the PCDF grow. This involvement is critical, since we have no full-time employees and most of the work we have done is being performed as part-time contracted labor or by volunteers who actually have to make a living elsewhere in addition to what they do for the PCDF. We are working on creating a structure so it is easier for those who wish to be involved in the growth of the PCDF to do so. In fact, we are actively recruiting someone from the community who would be willing to serve as a volunteer coordinator. If you are interested in this role or would like to volunteer in another capacity, please contact us at
This e-mail address is being protected from spambots. You need JavaScript enabled to view it
.
*Phenotype is the physical expression of your genetic code. For example, if your genetic code includes a PCD mutation on DNAH5 (which codes for an outer dynein arm protein), the expression of that code—your phenotype—would be defective outer dynein arms leading to impaired mucociliary clearance with subsequent chronic infections of the ears, nose and sinuses and possibly to situs defects. |
