Characterization and Role of Mutations in Sodium-phosphate Cotransporters in Patients With Calcific Aortic Valve Disease

NCT01939678 | Terminated

• 1 other identifier: 2012-12
• Study Type: observational
• Target: 3
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to investigate whether mutations in genes coding for Na/Pi-cotransporters are associated with aortic valve calcification. A patient population with premature aortic valve calcification treated with aortic valve replacement will be screened for mutations in these specific genes. Furthermore, aortic valve tissue received from the operations, will be examined for the presence of Na/Pi-cotransporters, and for molecular characterization of the transporters.

Conditions

Aortic Valve Stenosis

Outcome Measures

Primary Outcomes (1)

• Mutations in sodium-phosphate cotransporters in patients with calcific aortic valve disease

  Mutations in genes coding for Na/Pi-cotransporters

  At the time of aortic valve replacement

Eligibility Criteria

• Age: Up to 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with aortic valve calcification that will be treated with an aortic valve replacement

You may qualify if:

• Patients with aortic valve calcification that will be treated with an aortic valve replacement.
• Age ≤ 65 years.
• Signed and dated informed consent.

You may not qualify if:

• Inability to provide informed consent
• Earlier radiation therapy of the thorax
• Severe renal disease (patients in treatment with dialysis)

Sponsors & Collaborators

• Region Örebro County: lead

Study Sites (1)

Department of Cardiology, Orebro University Hospital

Örebro, 70185, Sweden

Location

Biospecimen

Retention: SAMPLES WITH DNA

Bloodsamples and Aortic valve samples

MeSH Terms

Conditions

Aortic Valve Stenosis

Condition Hierarchy (Ancestors)

Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases; Ventricular Outflow Obstruction

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, PhD

Study Record Dates

• First Submitted: August 27, 2013
• First Posted: September 11, 2013
• Study Start: September 1, 2013
• Primary Completion: September 1, 2019
• Study Completion: September 1, 2019
• Last Updated: September 11, 2019

Record last verified: 2019-09

Locations

SE (1)