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.
- Conditions
- Molybdenum Cofactor Deficiency (MoCD) Type AHuman Genetics and Inherited Disorders - Other human genetics and inherited disorders
- Registration Number
- ACTRN12609000849291
- Lead Sponsor
- PMP(Vic) Pty Ltd
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Suspended
- Sex
- All
- Target Recruitment
- 10
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).
- MoCD Type B (MOCS2 mutation) or Type C (gephyrin gene mutation)
- Sulfite oxidase deficiency
- Patients older than 6 weeks at the time of diagnosis
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method