Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of

Status Active, not recruiting

Clinical Trial Summary

Alpha-1 Anti-trypsin Deficiency (AATD) is a genetic disease with lung and liver disease presentations. The purpose of this study is to examine the density of the lung as measured by chest computed tomography (CT) and determine if existing emphysema predicts changes in the rate of subsequent emphysema or changes in CT, serum or plasma biomarkers of interest. The overarching goal is to develop biomarkers that can be used in interventional trials since lung function changes do not typically inform disease progression in AATD.

Clinical Trial Description

Progression of lung disease in patients with Alpha-1 Anti-trypsin deficiency is variable and while some patients may have stable lung function over many years, some progress and deteriorate rapidly. Currently there are no predictors that would help identify patient at risk of rapid deterioration. The aim of this study is to identify markers and features in CT imaging that may allow identification of these patients early before deterioration. To achieve this, the study will follow a cohort of patients with confirmed Alpha-1 Anti-trypsin deficiency and lung disease and measure a number of biomarkers in blood and sputum and obtain high resolution CT scans at baseline and again three years later. If the study is able to determine markers that allow the identification of patients at risk early, the investigator may be able to study early interventions in later studies and possibly find ways to avoid serious complications. Patients will be followed longitudinally to assess deterioration of lung function. Study procedures include: Review of medical history and medication history, blood draw, complete Pulmonary Function Test (PFT), induced sputum (at some sites), completion of questionnaires and CT Chest scan. All of the mentioned procedures above will be performed on enrollment and repeated at 18 months and 36 months, with the exception of monthly Alpha- net exacerbation questionnaires. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT05297812
Study type	Observational [Patient Registry]
Source	Columbia University
Contact
Status	Active, not recruiting
Phase
Start date	March 23, 2022
Completion date	January 2027

View Details

See also
Status	Clinical Trial	Phase
Active, not recruiting	`NCT03548779` - North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2	N/A
Completed	`NCT03292302` - Phase 1 Study of ELX-02 in Healthy Adults	Phase 1
Withdrawn	`NCT03658382` - Virtual Visits for Results Disclosure	N/A
Recruiting	`NCT02266615` - Biobank Clinical Genetics Maastricht (KG01)
Recruiting	`NCT02450851` - Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Recruiting	`NCT05472714` - Educational Video for Genetic Testing	N/A
Recruiting	`NCT04285814` - Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells From Maternal Peripheral Blood
Completed	`NCT05443113` - Young Pectus Excavatum Patients and Genetic Defects
Completed	`NCT05655741` - Modified Delphi for Genomic Bereavement Care
Completed	`NCT03847909` - A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2	Phase 2
Completed	`NCT04584528` - Implementing an Individualized Pain Plan (IPP) for ED Treatment of VOE's in Sickle Cell Disease	N/A
Not yet recruiting	`NCT06048523` - Prospective Cohort Study of Neurogenetic Diseases	N/A
Completed	`NCT02225522` - Genomic Sequencing in Acutely Ill Neonates	N/A
Enrolling by invitation	`NCT06089954` - Penn Medicine Biobank Return of Results Program	N/A
Completed	`NCT03713333` - Implementing Digital Health in a Learning Health System	N/A
Completed	`NCT03309605` - Phase 1 Study of ELX-02 in Healthy Adult Subjects	Phase 1
Recruiting	`NCT05499091` - Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN	N/A
Completed	`NCT04556487` - Turkish Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS)
Completed	`NCT04556500` - Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)
Recruiting	`NCT02551081` - Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease — A1BC

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms