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Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
Bu çalışma, primer siliyer diskinezi (primary ciliary dyskinesia) hastalarında mutasyona uğramış yeni genlerin işlevini genotip-fenotip ilişkisi üzerinden incelemektedir; bu kapsamda Albuterol ve Technetium99m-Sulfur Colloid (Tc99m-SC) kullanılmaktadır. Genetik mutasyonu doğrulanmış PCD hastaları ile sağlıklı gönüllüler katılabilmektedir. Çalışma Erken Faz 1 aşamasında yürütülmüş ve tamamlanmıştır.
Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.
Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.
Inclusion Criteria for PCD Patients * Confirmed PCD diagnosis with identified genetic mutations * Negative pregnancy test for females who are not s/p hysterectomy with oophorectomy * Forced Expiratory Volume (FEV1) of at least 30 percent of predicted Inclusion Criteria for Healthy Controls: * Age ≥ 18 years old * Subjects must have an Forced vital capacity (FVC), Forced Expiratory Volume in one second (FEV1) and FVC/FEV1 of at least 80% of predicted. Subjects who fall out of the normal range will be offered a copy of the test to share with their personal physician. * No pre-existing lung disease (asthma, cystic fibrosis, etc.). * Negative pregnancy test for females who are not s/p hysterectomy with oophorectomy. Exclusion Criteria: * Any chronic medical condition considered by the PI as a contraindication to the exposure study including significant cardiovascular disease, diabetes, chronic renal disease, chronic thyroid disease, immunodeficiency, history of tuberculosis * Any acute infection requiring antibiotics within 4 weeks of study. * Mental illness or history of drug or alcohol abuse that, in the opinion of the investigator, would interfere with the participant's ability to comply with study requirements. * Medications which may impact the results of the study treatment, or may interfere with any other medications potentially used in the study (to include steroids, beta antagonists, non-steroidal anti-inflammatory agents) * Active smoking to include e-cigarettes within 1 year of the study, or lifetime of \> 10 pack years of smoking * History of vaping or current vaping. * Viral upper respiratory tract infection within 4 weeks of challenge. * Radiation exposure history in the past year which would be outside the safe levels * Pregnant or lactating women will also be excluded since the risks associated with radiation are unknown and cannot be justified * Use of the following medications: 1. Use of beta blocking medications 2. Receipt of Live Attenuated Influenza Vaccine (LAIV), also known as FluMist , within the prior 30 days, or any vaccine within the prior 5 days 3. Multivitamins, Vitamin C or E or herbal medications in the 4 days prior to the treatment visit 4. Non-steroidal anti-inflammatory drugs in the 4 days prior to the treatment visit. * Allergy/sensitivity to study drugs or their formulations: * Known Immunoglobulin E (IgE) mediated hypersensitivity to albuterol * Physical/laboratory indications: 1. Temperature \> 37.8 degrees Celsius (C) 2. Subjects \>15 years- Systolic BP \>150 mm hg or \< 90 mm Hg or diastolic BP\> 90 mm Hg or \< 50 and Subjects 12-15 years - Systolic BP \> 130 mmHg or \< 80 mmHg or diastolic BP \> 80 or \<40 3. Oxygen saturation of \< 93 percent * Inability or unwillingness of a participant to give written informed consent.