Clinical Trial: A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies
Brief Summary:
Primary objective:
Characterize the natural history of MoCD type A in terms of survival
Secondary objectives:
- Evaluate blood and urine for biochemical markers
- Evaluate head circumference, seizure activity and neurologic outcomes
- To evaluate brain MRI
- Compare blood and urine analysis, head circumference, seizure activity and neurologic outcomes to MRI findings
Detailed Summary:
Sponsor: Alexion Pharmaceuticals
Current Primary Outcome: To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival [ Time Frame: 12 months ]
Original Primary Outcome: To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival [ Time Frame: September 2014 ]
Current Secondary Outcome: To evaluate levels of the biochemical markers S-sulfocysteine (SSC), uric acid, and xanthine in blood, urine, and cerebral spinal fluid over time in patients with MoCD and isolated sulfite oxidase (SOX) deficiency. [ Time Frame: 12 months ]
Original Secondary Outcome: To evaluate levels of the biochemical markers S-sulfocysteine (SSC), uric acid, and xanthine in blood, urine, and cerebral spinal fluid over time in patients with MoCD and isolated sulfite oxidase (SOX) deficiency. [ Time Frame: September 2014 ]
Information By: Alexion Pharmaceuticals
Dates:
Date Received: November 26, 2012
Date Started: August 2013
Date Completion:
Last Updated: July 18, 2016
Last Verified: July 2016
