Isolated Sulfite Oxidase Deficiency, Molybdenum Cofactor Deficiency
Conditions
Keywords
Natural history study
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
Interventions
None listed
Sponsors
Origin Biosciences
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival | 12 months |
Secondary
| Measure | Time frame |
|---|---|
| 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. | 12 months |
Countries
Canada, Germany, Israel, Italy, Japan, Malaysia, Netherlands, Poland, Saudi Arabia, Spain, Tunisia, Turkey (Türkiye), United Kingdom, United States
Outcome results
None listed