NCT01735188

A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies

A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 65 (actual)
• Sponsor: Origin Biosciences · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

Primary objective: Characterize the natural history of MoCD type A in terms of survival Secondary objectives: 1. Evaluate blood and urine for biochemical markers 2. Evaluate head circumference, seizure activity and neurologic outcomes 3. To evaluate brain MRI 4. Compare blood and urine analysis, head circumference, seizure activity and neurologic outcomes to MRI findings

Conditions

• Molybdenum Cofactor Deficiency
• Isolated Sulfite Oxidase Deficiency

Timeline

• Start date: 2013-08-01
• Primary completion: 2015-11-01
• Completion: 2016-06-01
• First posted: 2012-11-28
• Last updated: 2019-03-19

Locations

32 sites across 14 countries: United States, Canada, Germany, Israel, Italy, Japan, Malaysia, Netherlands, Poland, Saudi Arabia, Spain, Tunisia, Turkey (Türkiye), United Kingdom