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.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Enrollment
10
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.
Monash Medical Centre
Melbourne, Victoria, Australia
Urine biomarkers SSC and sulfite
Time frame: Daily collection throughout study; analyzed at 3 months
neurological examination
Time frame: collected daily; analyzed at 3 months
Safety measures (vital signs, adverse events)
Time frame: collected daily; analyzed at 3 months
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