A multi-centre study of the safety, tolerability and effects of intravenously administered Cyclic Pyranopterin Monophosphate (cPMP) in patients with molybdenum cofactor deficiency type A.
A multi-centre, open-label study of the safety, tolerability and pharmacodynamics of intravenously administered Cyclic Pyranopterin Monophosphate (cPMP) (precursor Z) in patients with molybdenum CoFactor deficiency type A
PMP(Vic) Pty Ltd
10 participants
Sep 30, 2009
Interventional
Conditions
Summary
The purpose of this study is an attempt at treating neonates born with Molybdenum Cofactor Deficiency Type A. This study is a multi-site study open to participants living in ANY country WORLDWIDE, it is not restricted to the countries listed above.
Eligibility
Inclusion Criteria4
- 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 Human Research Ethics Committee (HREC) / Independent Review Board (IRB) and government or regulatory authorities (if applicable).
Exclusion Criteria3
- MoCD Type B (MOCS2 mutation) or Type C (gephyrin gene mutation)
- Sulfite oxidase deficiency
- Patients older than 6 weeks at the time of diagnosis
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Interventions
Cyclic pyranopterin monophosphate (cPMP), also known as precursor Z, which has been extracted from cultures of E. coli and purified. The first day treatment will be a total dose of 80 micrograms per kilogram of body weight of cPMP and administered as four intravenous (IV) infusions. On days 2, 3 and 4, the dose will be administered as two infusions. On days 5 and 6, the dose will be administered as one infusion over three hours and; on days 7 to 12, the dose will be administered as one infusion over one hour. On subsequent days, the daily dose will be 160 microgram per kilogram administered as an infusion over one hour. The dose and regimen will be adjusted according to the urine metabolites, sulphur cysteine and sulphate levels. The administration of cPMP will continue for a minimum of 90 days provided the patient is deriving a benefit from cPMP treatment.
Locations(4)
View Full Details on ANZCTR
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ACTRN12609000849291