Molybdenum Cofactor Deficiency Type A Clinical Trial
Official title:
A Multicenter, Open-Label Study of the Safety, Tolerability, and Pharmacodynamics of Intravenously Administered cPMP (Precursor Z) in Patients With Molybdenum Cofactor Deficiency Type A
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.
| Status | Withdrawn |
| Enrollment | 10 |
| Est. completion date | |
| Est. primary completion date | April 2010 |
| Accepts healthy volunteers | No |
| Gender | Both |
| Age group | N/A to 6 Weeks |
| Eligibility |
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 |
Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
| Country | Name | City | State |
|---|---|---|---|
| Australia | Monash Medical Centre | Melbourne | Victoria |
| Lead Sponsor | Collaborator |
|---|---|
| Orphatech Pharmaceuticals, GmbH |
Australia,
Schwarz G, Santamaria-Araujo JA, Wolf S, Lee HJ, Adham IM, Gröne HJ, Schwegler H, Sass JO, Otte T, Hänzelmann P, Mendel RR, Engel W, Reiss J. Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. Hum Mol Genet. 2004 Jun 15;13(12):1249-55. Epub 2004 Apr 28. — View Citation
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Urine biomarkers SSC and sulfite | Daily collection throughout study; analyzed at 3 months | No | |
| Secondary | neurological examination | collected daily; analyzed at 3 months | No | |
| Secondary | Safety measures (vital signs, adverse events) | collected daily; analyzed at 3 months | Yes |