Next 5 Year Round of PCD Research Re-funded

We are delighted to announce that the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) has been re-funded for another five years (years 15-20) of research on PCD and related disorders. Here is the official announcement from the National Center for Advancing Translational Sciences (NCATS). Link to article: https://ncats.nih.gov/news/releases/2019/rdcrn-funding

WHAT’S NEW IN THIS ROUND OF OF FUNDING?

The GDMCC has been instrumental in collecting important data about the natural history of PCD and related disorders, including gene identification, gene-related disease severity, and long-term (longitudinal) studies of children and young adults with PCD. This information will allow us to now move forward with studies on gaps in knowledge from earlier studies. The three primary studies that will part of the next round of funding are:

1. PCD vs. Primary Immunodeficiency Disorders (PID). Prior GDMCC studies have demonstrated that because the symptoms of PCD and rare PIDs are very, very similar, there can be issues with misdiagnosing one as the other. In the case of PIDs misdiagnosed as PCD, the consequences of misdiagnosis can be devastating, and even result in early death. This study will seek to establish how common these misdiagnoses are and attempt to identify markers that may help clarify the diagnosis earlier.

2. Exacerbations (flare–ups) in PCD. As families, we know that exacerbations are very common in PCD, especially in younger children and in adults with more advanced disease. This study will seek to define what constitutes an exacerbation (will include patient input), how often they occur in PCD and the longterm effects of exacerbations in PCD. For the first time, wearable and at-home tech will be used in this study, allowing for more community participation from long distances (some travel for visits will still be required, however). This study will include both children and adults with PCD.

3. ENT Issues in PCD. PCD-related ENT issues create a significant amount of misery in PCD. A number of small studies have been done to characterize the spectrum of ENT disease seen in PCD. This study aims to do the same in a larger patient cohort, as well as looking at areas of ENT function (vestibular dysfunction, for example) and best treatment practices. This study will be open to children and adults with PCD.

In addition to the three main projects, the GDMCC will feature a number of pilot projects yet to be identified.

Now that the GDMCC has received the notice of approval, the next steps are to get the specific protocols for the main projects approved and then enrollment in the studies can begin. The PCD Foundation will provide updates on study status throughout this process.

HOW CAN YOU GET INVOLVED?

There are 8 GDMCC participating sites for the main projects. If you are a patient at one of these sites, your physician will alert you if you are eligible for one or more of the studies.

If you are seen at a PCD Foundation Center site (check our website) the directors of these sties will be informed of study status and some may be involved in GDMCC pilot studies, as well. Be sure to check with your physician.

If you are not seen at a PCD or GDMCC center, there will be an online website where you can provide contact information if you would like to participate in one or more of the studies. This should be available soon and the PCDF will make an announcement as soon as the contact registry is up and running.

WE STRONGLY ENCOURAGE EVERY PATIENT TO PARTICIPATE. No one can do this for us and every individual with PCD has important information to contribute to our knowledge of this disorder. Thanks to all whose participation has gotten us this far!!

Michele Manion

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