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

Origin Biosciences

Status: Completed

Conditions: Isolated Sulfite Oxidase Deficiency; Molybdenum Cofactor Deficiency

Study type: Observational

Funder types: Industry

Identifiers

NCT01735188

ALX-MCD-502 (Registry Identifier)

Details and patient eligibility

About

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

Enrollment: 65 patients

Sex: All

Volunteers: No Healthy Volunteers

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)

Trial design

65 participants in 2 patient groups

Living

Deceased