Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type A

NCT ID: NCT00957749

Last Updated: 2011-02-01

Basic Information

• Recruitment Status: WITHDRAWN
• Clinical Phase: PHASE1/PHASE2
• Total Enrollment: 10 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2009-08-31

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 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.

Conditions

Molybdenum Cofactor Deficiency Type A

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

cPMP

Group Type: EXPERIMENTAL

cPMP

Intervention Type: DRUG

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.

Interventions

cPMP

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.

Intervention Type: DRUG

Other Intervention Names

Cyclic pyranopterin monophosphate; Precursor Z

Eligibility Criteria

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

• Maximum Eligible Age: 6 Weeks
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Orphatech Pharmaceuticals, GmbH

INDUSTRY

Sponsor Role: lead

Responsible Party

Orphatech GmbH

Principal Investigators

Alex Veldman, MD

Role: PRINCIPAL_INVESTIGATOR

Monash Medical Centre

Locations

Monash Medical Centre

Melbourne, Victoria, Australia

Countries

Australia

References

Schwarz G, Santamaria-Araujo JA, Wolf S, Lee HJ, Adham IM, Grone HJ, Schwegler H, Sass JO, Otte T, Hanzelmann 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. doi: 10.1093/hmg/ddh136. Epub 2004 Apr 28.

Reference Type: BACKGROUND

PMID: 15115759 (View on PubMed)

Other Identifiers

cPMP01-08

Identifier Type: -

Identifier Source: org_study_id