Trial record 2 of 4 for:    "Molybdenum cofactor deficiency"

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

This study has been withdrawn prior to enrollment.
(IND application was withdrawn, and therefore study listing is being withdrawn.)
Sponsor:
Information provided by:
Orphatech Pharmaceuticals, GmbH
ClinicalTrials.gov Identifier:
NCT00957749
First received: July 10, 2009
Last updated: January 29, 2011
Last verified: January 2011
  Purpose

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 Intervention Phase
Molybdenum Cofactor Deficiency Type A
Drug: cPMP
Phase 1
Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Endpoint Classification: Safety/Efficacy Study
Intervention Model: Single Group Assignment
Masking: 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

Resource links provided by NLM:


Further study details as provided by Orphatech Pharmaceuticals, GmbH:

Primary Outcome Measures:
  • Urine biomarkers SSC and sulfite [ Time Frame: Daily collection throughout study; analyzed at 3 months ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • neurological examination [ Time Frame: collected daily; analyzed at 3 months ] [ Designated as safety issue: No ]
  • Safety measures (vital signs, adverse events) [ Time Frame: collected daily; analyzed at 3 months ] [ Designated as safety issue: Yes ]

Estimated Enrollment: 10
Study Start Date: August 2009
Estimated Primary Completion Date: April 2010 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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

  Eligibility

Ages Eligible for Study:   up to 6 Weeks
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00957749

Locations
Australia, Victoria
Monash Medical Centre
Melbourne, Victoria, Australia, 3168
Sponsors and Collaborators
Orphatech Pharmaceuticals, GmbH
Investigators
Principal Investigator: Alex Veldman, MD Monash Medical Centre
  More Information

Publications:
Responsible Party: Robert Gianello, Orphatech GmbH
ClinicalTrials.gov Identifier: NCT00957749     History of Changes
Other Study ID Numbers: cPMP01-08
Study First Received: July 10, 2009
Last Updated: January 29, 2011
Health Authority: United States: Institutional Review Board
Australia: Department of Health and Ageing Therapeutic Goods Administration

Additional relevant MeSH terms:
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Molybdenum
Trace Elements
Micronutrients
Growth Substances
Physiological Effects of Drugs
Pharmacologic Actions

ClinicalTrials.gov processed this record on August 21, 2014