Status:
WITHDRAWN
Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type A
Lead Sponsor:
Orphatech Pharmaceuticals, GmbH
Conditions:
Molybdenum Cofactor Deficiency Type A
Eligibility:
All Genders
Up to 6 years
Phase:
PHASE1
PHASE2
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 ...
Eligibility Criteria
Inclusion
- 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
- MoCD Type B (MOCS2 mutation) or Type C (gephyrin gene mutation)
- Sulfite oxidase deficiency
- Patients older than 6 weeks at the time of diagnosis
Key Trial Info
Start Date :
August 1 2009
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
Estimated Enrollment :
10 Patients enrolled
Trial Details
Trial ID
NCT00957749
Start Date
August 1 2009
Last Update
February 1 2011
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
Monash Medical Centre
Melbourne, Victoria, Australia, 3168