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

January 29, 2011 updated by: Orphatech Pharmaceuticals, GmbH

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.

Study Overview

Status

Withdrawn

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

10

Phase

  • Phase 2
  • Phase 1

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Australia
    • Victoria
      • Melbourne, Victoria, Australia, 3168
        • Monash Medical Centre

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 1 month (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: Non-Randomized
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Urine biomarkers SSC and sulfite
Time Frame: Daily collection throughout study; analyzed at 3 months
Daily collection throughout study; analyzed at 3 months

Secondary Outcome Measures

Outcome Measure
Time Frame
neurological examination
Time Frame: collected daily; analyzed at 3 months
collected daily; analyzed at 3 months
Safety measures (vital signs, adverse events)
Time Frame: collected daily; analyzed at 3 months
collected daily; analyzed at 3 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Orphatech Pharmaceuticals, GmbH

Investigators

  • Principal Investigator: Alex Veldman, MD, Monash Medical Centre

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

August 1, 2009

Primary Completion (Anticipated)

April 1, 2010

Study Registration Dates

First Submitted

July 10, 2009

First Submitted That Met QC Criteria

August 10, 2009

First Posted (Estimate)

August 12, 2009

Study Record Updates

Last Update Posted (Estimate)

February 1, 2011

Last Update Submitted That Met QC Criteria

January 29, 2011

Last Verified

January 1, 2011

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • cPMP01-08

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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