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Research and Clinical Trials
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What is Research?

“Research” is a broad term that encompasses many different aspects of scientific discovery. In medicine, research is a systematic way to evaluate traits or effects that are observed under controlled conditions. The goal of this controlled observation and analysis is to reach validated (credible) conclusions about the nature of a disorder, the safety or effectiveness of a particular treatment, the best course of treatment, or to collect data that will allow direct future research efforts.

Clinical Versus Basic Science Research

In broad terms, clinical research refers to research done on human subjects with the goal of understanding the natural history of a disease, validating diagnostic tools, or evaluating a treatment or intervention. Basic science research generally refers to studies done in attempt to answer more fundamental, but equally important, questions that may be used as the foundation for further research. For affected individuals, the importance of clinical research is obvious, but it would be a mistake to discount the importance of basic science research. In PCD for example, the genetic mutations that cause the human disease were discovered in large part by basic science research done on a single celled organism called Chlamydomonas. These discoveries were then translated (“translational research” is another term you may have heard) for use in human genetic testing. Ideally, both targeted basic science research and clinical research are employed in understanding a disease.

Creating a Scientific Foundation for Further Research

We would all be skeptical if a friend with no medical background offered to do brain surgery on us, right? The reason for this is that we understand that there is a significant foundation of knowledge and skill that must be achieved before attempting anything as complex as brain surgery.  Learning about cells and biology allows a student to move on to basic anatomy and physiology, which in turn allows more in-depth study into brain anatomy and physiology, and so forth. We would not have much faith in a practitioner who skipped any of these crucial steps. The same is true in research. For the results to be valid, a solid foundation of fundamental knowledge needs to be built first. In PCD, we are well into the process of building that foundation through NIH-sponsored Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) studies (see below ‘Current Clinical Study Opportunities’). Protocol 5902 attempts to clearly define what PCD is and how it can be accurately diagnosed. This is not as simple as it sounds and PCD continues to be significantly misdiagnosed and misunderstood as a disease state. This protocol attempts to address those issues, as well as identify a large enough confirmed patient base for future clinical trials. Protocols 5901 and 5903 are aimed at providing clear evidence of the natural history and progression of disease in PCD. We must have evidence of what can be expected to happen in PCD for trials of therapies or preventive measures to have any meaning. As an example, if we want to do a trial to see if specific antibiotic therapy can help prevent the acquisition of Pseudomonas in PCD patients, first we have to have documented evidence that Pseudomonas is actually acquired by a significant proportion of people with PCD and how it affects them.

Building this foundation is expensive and time-consuming, but it is essential. The support of the PCD community in facilitating these trials is critical to advancing future research efforts.

The PCD Foundation encourages all patients to consider becoming involved in research when the opportunity arises. We will maintain a list of open research studies on our site under the ‘Current Clinical Study Opportunities’ tab. You can also look for legitimate study opportunities by visiting Clinicaltrials.gov and entering search terms such as ‘primary ciliary dyskinesia,’ ‘bronchiectasis,’ ‘situs inversus,’ etc.

For more information on participating in research, including pros and cons, please click here.

Current Clinical Study Opportunities for the North American PCD Community

The following studies are specifically recruiting PCD patients in North America.  Additional studies that are not yet recruiting, are outside of North America or are not specific to PCD, but still of interest to PCD patients (e.g. therapies for bronchiectasis) will not be included here, but may be found by searching Clinicaltrials.gov

*Note: The following studies are affiliated with the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)

1. Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia
Status:
Active/Recruiting
Location: 
Toronto, Ontario, Canada, Hospital for Sick Children
http://clinicaltrials.gov/ct2/show/NCT01155115?term=primary+ciliary+dyskinesia&rank=2

2. Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
Status:
Active/Recruiting
Location:
Multiple—main site: University of North Carolina, Chapel Hill
http://clinicaltrials.gov/ct2/show/NCT00722878?term=primary+ciliary+dyskinesia&rank=5

3. Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
Status:
Active/Recruiting
Location:
Multiple—main site: University of North Carolina, Chapel Hill
http://clinicaltrials.gov/ct2/show/NCT00807482?term=primary+ciliary+dyskinesia&rank=9

4. Dyskinesia, Heterotaxy and Congenital Heart Disease
Status:
Active/Recruiting
Location:
Washington, DC-Children’s National Health and the NIAID
http://clinicaltrials.gov/ct2/show/NCT00608556?term=primary+ciliary+dyskinesia&rank=10

5. Rare Genetic Disorders of the Breathing Airways
Status:
Active/Recruiting
Location:
Multiple—main site: University of North Carolina, Chapel Hill
http://clinicaltrials.gov/ct2/show/NCT00323167?term=primary+ciliary+dyskinesia&rank=11