Rare Diseases Clinical Research Network Study Ready to Register Patients
The NIH-sponsored research study on genetic disorders of mucociliary clearance (aka “the PCD study”) will begin registering patients soon. Patients with PCD are encouraged to participate in the research registry. Paper registry forms are attached to this e-mail or they can be accessed online at:
What is the Genetic Diseases of Mucociliary Clearance Consortium (GDMCC)?
The Genetic Disorders Of Mucociliary Clearance Consortium is a network of four U.S. centers (University of North Carolina at Chapel Hill, Washington University in St. Louis, University of Washington, and University of Colorado) 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. 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.
What is the Mission of the GDMCC?
The mission of the Genetic Disorders Of Mucociliary Clearance Consortium is to create and maintain a clinical research network to study rare diseases of the airways, focusing on primary ciliary dyskinesia (PCD), with rigorous diagnostic evaluations and comparative clinical studies in cystic fibrosis (CF), pseudohypoaldosteronism (PHA), and other chronic airway disease.
The consortium, which is centered at the University of North Carolina at Chapel Hill (UNC), currently consists of four primary sites, UNC; Washington University in St. Louis (Missouri); University of Washington (Seattle, Washington), and University of Colorado (Denver, Colorado), all of which have expertise in studying the genetics and pathogenesis of airways disease, design of clinical trials, and development of novel therapeutics for defective lung defenses. In this proposal, we will develop collaborative, intellectual, and methodological resources for the study of rare diseases of the airways.
Finally, the consortium plans to establish training programs in rare airways diseases, and develop regional and internet-based networks to provide information about such rare diseases to the patients, medical professionals, and lay public for education, referral, and recruitment of study subjects.
What are the Goals of the GDMCC?
The goal of this consortium is to:
1. Improve diagnostic testing for unusual but important, inherited airway
diseases , including primary ciliary dyskinesia (PCD), atypical forms of cystic
fibrosis (CF) , and pseudohypoal-dosteronism (PHA).
2. Better understand how these diseases cause progressive lung involvement.
3. Develop new and effective treatments for these diseases.
If I have already participated in the UNC PCD Research Study, Should I Still
Sign up for the Registry?
This is a multi-faceted research study which may offer additional research opportunities
for interested families. If you are interested in participating, you must register
for the GDMCC even if you have already been seen at UNC. Joining the GDMCC research
registry does not obligate you to participation in a study and is not the same
as enrolling in a specific study. It allows researchers to contact you when
an appropriate research opportunity becomes available.
Will my Information be Kept Confidential?
Patient information will only be available to the research coordinators and medical professionals directly in research. The PCD Foundation is a conduit for administering information about the GDMCC, but has no access to registry or patient information.
How Do I Join the GDMCC Patient Research Registry?
1. Complete the registry form in hard copy or online at: https://rarediseasesnetwork.epi.usf.edu/rdnwebapp/registry/descriptionandpurpose.aspx?ownerid=1002&diseasetype=50.
We will also try to create a direct link to this site on the homepage of the
PCD Foundation website. Hard copies should be mailed to the address at the bottom
of the form.
2. E-mail or fax Beth Godwin or Susan Minnix, RN, who are the UNC research coordinators
for this project to let them know you have registered. Beth’s contact
info is: godwine@med.unc.edu; fax:
919-966-7524 and Susan’s is: sminnix@med.unc.edu;
fax: 919-843-5309.
Please contact Beth, Susan or the PCD Foundation if you have questions.