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Primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is an inherited disorder which affects the movement of tiny hair-like structures on body cells, known as cilia. Cilia are present on many types of cells, and particularly on those in the respiratory tract
Prevalence
N/A
US Estimated
N/A
Europe Estimated
Age of Onset
Neonatal
ICD-10
Q34.8
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of cilia, microscopic hair-like structures that play a crucial role in moving mucus and particles out of the respiratory tract, reproductive tract, and other organs
FACT
In some cases, individuals with PCD may have situs inversus, a condition where the organs in the chest and abdomen are mirrored from their normal positions
FACT
Common symptoms include chronic respiratory infections, chronic cough, sinusitis, and infertility due to impaired function of cilia in the reproductive organs
FACT
Diagnosis involves specialized tests, such as high-speed video microscopy and genetic testing, to assess ciliary function and identify genetic mutations
FACT
Treatment focuses on managing symptoms, including respiratory and sinus infections, and may involve airway clearance techniques and antibiotics. PCD is a lifelong condition, and management is often multidisciplinary, involving pulmonologists, otolaryngologists, and other specialists
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Common signs and symptoms
Abnormal sperm motility
Chronic otitis media
Chronic rhinitis
Chronic sinusitis
Nasal obstruction
Current treatments
Abnormal sperm motility
Chronic otitis media
Chronic rhinitis
Chronic sinusitis
Nasal obstruction
Current trials
| Title | Description | Phases | Status | Interventions | More Information |
|---|---|---|---|---|---|
| A Longitudinal, Observational Study of Primary Ciliary Dyskinesia in Adults | The goal of this observational study is to characterize clinical measures and biomarkers of airway disease in adults with primary ciliary dyskinesia (PCD) and in a group of healthy volunteers (HV) to establish normative values. Lung function, mucociliary clearance, radiological findings, and clinical findings will be assessed. Furthermore, quality of life will be assessed using QOL-PCD, a disease specific questionnaire. | ACTIVE_NOT_RECRUITING | DIAGNOSTIC_TEST: Spirometry|DIAGNOSTIC_TEST: Multiple Breath Washout (MBW)|DIAGNOSTIC_TEST: Mucociliary Clearance (MCC)|DIAGNOSTIC_TEST: CT of the chest|DIAGNOSTIC_TEST: MRI of the chest | More info | |
| A Study Providing Genetic Testing to Find Those Who May Have Primary Ciliary Dyskinesia for Potential Clinical Trials | Primary purpose is to identify individuals who have PCD due to a genetic mutation within the DNAI1 and other genes of interest to help refer participants to future clinical studies for this rare disease. | ACTIVE_NOT_RECRUITING | GENETIC: Sano Genetics Testing Kit | More info | |
| Use of Nasal Nitric Oxide Testing in Improving Primary Ciliary Dyskinesia Clinical Care | this study is aiming at learning more about primary ciliary dyskinesia (PCD) and tests that are used to diagnose this condition. One purpose of this study is to measure the level of nitric oxide in the nasal passages and examine how often the results correlate with other tests currently done to make the diagnosis. | RECRUITING | More info | ||
| Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype | The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes, and compare to healthy subjects. Some of these genes are associated with a milder clinical phenotype. This study seeks to determine if the milder phenotype is a result of mutations in a set of specific genes. The hypothesis is that subjects with PCD caused by mutations in the milder group will maintain a low, but significant rate of mucociliary clearance, while patients with mutations in genes in the more severe group will have a complete absence of mucociliary clearance. These studies will help inform future treatment strategies. | EARLY_PHASE1 | RECRUITING | DRUG: Albuterol|DIAGNOSTIC_TEST: Technetium99m - Sulfur Colloid (Tc99m-SC) | More info |
| The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia. | The purpose of this study is to determine the effect of a dietary supplement rich in nitric oxide (NO) on nasal nitric oxide and fractional exhaled nitric oxide (FeNO),on ciliary beat frequency assessed by high-speed digital video microscopy and on lung function assessed by spirometry in normal patients and patients with Primary ciliary dyskinesia (PCD). | NA | UNKNOWN | DIETARY_SUPPLEMENT: Beet-it Juice | More info |