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Trial record 3 of 6 for:    Molybdenum Cofactor Deficiency

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

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ClinicalTrials.gov Identifier: NCT00957749
Recruitment Status : Withdrawn (IND application was withdrawn, and therefore study listing is being withdrawn.)
First Posted : August 12, 2009
Last Update Posted : February 1, 2011
Information provided by:
Orphatech Pharmaceuticals, GmbH

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.

Condition or disease Intervention/treatment Phase
Molybdenum Cofactor Deficiency Type A Drug: cPMP Phase 1 Phase 2

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 10 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
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
Study Start Date : August 2009
Estimated Primary Completion Date : April 2010

Arm Intervention/treatment
Experimental: cPMP Drug: 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.
Other Names:
  • Cyclic pyranopterin monophosphate
  • Precursor Z

Primary Outcome Measures :
  1. Urine biomarkers SSC and sulfite [ Time Frame: Daily collection throughout study; analyzed at 3 months ]

Secondary Outcome Measures :
  1. neurological examination [ Time Frame: collected daily; analyzed at 3 months ]
  2. Safety measures (vital signs, adverse events) [ Time Frame: collected daily; analyzed at 3 months ]

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 6 Weeks   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00957749

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Australia, Victoria
Monash Medical Centre
Melbourne, Victoria, Australia, 3168
Sponsors and Collaborators
Orphatech Pharmaceuticals, GmbH
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Principal Investigator: Alex Veldman, MD Monash Medical Centre
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Responsible Party: Robert Gianello, Orphatech GmbH
ClinicalTrials.gov Identifier: NCT00957749    
Other Study ID Numbers: cPMP01-08
First Posted: August 12, 2009    Key Record Dates
Last Update Posted: February 1, 2011
Last Verified: January 2011
Additional relevant MeSH terms:
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Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases