Molybdenum Cofactor Deficiency Type A
Conditions
Brief summary
Molybdenum Cofactor Deficiency Type A (MoCD) is a very rare autosomal recessive disorder that is essentially fatal early in life. Naturally occurring cPMP is present in the body of all healthy normal individuals. It is processed to molybdopterin, which is further processed to molybdenum cofactor. Molybdenum cofactor is essential for the function of important enzymes. There is currently no treatment for MoCD, and affected infants develop severe neurological damage which often results in infant death. This study is the first clinical trial to investigate the potential of replacement of cPMP to infants with MoCD Type A. The safety, tolerability, and pharmacodynamics of daily intravenous administration of cPMP over 3 months will be determined.
Interventions
DRUGcPMP
Intravenous solution administered daily. Dose titrated from 80 μg/kg on Days 1-12 to 120 μg/kg on Days 13-34 to 160 μg/kg for days 35-90.
Sponsors
Orphatech Pharmaceuticals, GmbH
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
No minimum to 6 Weeks
Healthy volunteers
No
Inclusion criteria
* Neonate or infant, less then 6 weeks at the time of diagnosis, age less than 8 weeks at start of treatment with the study medication. It is important to diagnose the condition and initiate treatment as soon after birth as possible. * Documented diagnosis of molybdenum cofactor deficiency (MoCD) Type A based on the absence of cPMP and the presence of sulfite and s-sulfocysteine in the urine, absence of urothione in the urine and genetic analysis showing a mutation in the MOCS1 gene * A parent or legal guardian voluntarily provided written informed consent to participate in the study and comply with study procedures. * Approval of the study protocol by the local HE / IRB and government or regulatory authorities (if applicable)
Exclusion criteria
* MoCD Type B (MOCS2 mutation) or Type C (gephyrin gene mutation) * Sulfite oxidase deficiency * Patients older than 6 weeks at the time of diagnosis
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Urine biomarkers SSC and sulfite | Daily collection throughout study; analyzed at 3 months |
Secondary
| Measure | Time frame |
|---|---|
| neurological examination | collected daily; analyzed at 3 months |
| Safety measures (vital signs, adverse events) | collected daily; analyzed at 3 months |
Countries
Australia
Outcome results
None listed