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

NCT00957749 | Withdrawn Phase 1

• 1 other identifier: cPMP01-08
• Study Type: interventional
• Target: 10
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (1)

• Urine biomarkers SSC and sulfite

  Daily collection throughout study; analyzed at 3 months

Secondary Outcomes (2)

• neurological examination

  collected daily; analyzed at 3 months

• Safety measures (vital signs, adverse events)

  collected daily; analyzed at 3 months

Study Arms (1)

cPMP

EXPERIMENTAL

Drug: cPMP

Interventions

cPMP 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.

Also known as: Cyclic pyranopterin monophosphate, Precursor Z

cPMP

Eligibility Criteria

• Age: Up to 6 Weeks
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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)

You may not qualify if:

• MoCD Type B (MOCS2 mutation) or Type C (gephyrin gene mutation)
• Sulfite oxidase deficiency
• Patients older than 6 weeks at the time of diagnosis

Sponsors & Collaborators

• Orphatech Pharmaceuticals, GmbH: lead

Study Sites (1)

Monash Medical Centre

Melbourne, Victoria, 3168, Australia

Location

Related Publications (1)

• 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.

  PMID: 15115759 BACKGROUND

MeSH Terms

Conditions

Molybdenum Cofactor Deficiency, Complementation Group A

Interventions

nulibry; molybdopterin synthase

Study Officials

• Alex Veldman, MD

  Monash Medical Centre

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY

Study Record Dates

• First Submitted: July 10, 2009
• First Posted: August 12, 2009
• Study Start: August 1, 2009
• Primary Completion: April 1, 2010
• Last Updated: February 1, 2011

Record last verified: 2011-01

Locations

AU (1)