A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
| Status: | Completed |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 3/21/2019 |
| Start Date: | August 2013 |
| End Date: | June 2016 |
A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies
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
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
Inclusion Criteria:
1. Both living and deceased patients of any age will be considered for study inclusion.
2. Diagnosis of MoCD or isolated SOX deficiency
3. Documented informed consent
Exclusion Criteria:
1. MoCD Type A patient who was in Study ALX-MCD-501
2. Deceased patients with unknown genotype (as of Amendment 4)
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