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

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

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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:

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