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A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies

This study is not yet open for participant recruitment.
Verified February 2013 by Alexion Pharmaceuticals
Sponsor:
Information provided by (Responsible Party):
Alexion Pharmaceuticals
ClinicalTrials.gov Identifier:
NCT01735188
First received: November 26, 2012
Last updated: February 15, 2013
Last verified: February 2013
History of Changes
  Purpose

Primary objective:

Characterize the natural history of MoCD type A in terms of survival

Secondary objectives:

  1. Evaluate blood and urine for biochemical markers
  2. Evaluate head circumference, seizure activity and neurologic outcomes
  3. To evaluate brain MRI
  4. Compare blood and urine analysis, head circumference, seizure activity and neurologic outcomes to MRI findings

Condition Intervention
Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
 Other: No treatment

Study Type: Observational

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Alexion Pharmaceuticals:

Primary Outcome Measures:
  • To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival [ Time Frame: September 2014 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • To evaluate levels of the biochemical markers S-sulfocysteine (SSC), uric acid, and xanthine in blood, urine, and cerebral spinal fluid over time in patients with MoCD and isolated sulfite oxidase (SOX) deficiency. [ Time Frame: September 2014 ] [ Designated as safety issue: No ]

Estimated Enrollment: 30
Study Start Date: April 2013
Estimated Study Completion Date: June 2014
Estimated Primary Completion Date: June 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
No treatment Other: No treatment

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

The actual sample size will depend on successful identification of patients with MoCD or isolated SOX deficiency

Criteria

Inclusion Criteria:

  1. Both living and deceased patients of any age will be considered for study inclusion.
  2. Diagnosis of MoCD or isolated SOX deficiency
  3. Documented informed consent

Exclusion Criteria:

1. MoCD Type A patient who was in Study ALX-MCD-501

  Contacts and Locations
No Contacts or Locations Provided
  More Information

No publications provided

Responsible Party: Alexion Pharmaceuticals
ClinicalTrials.gov Identifier: NCT01735188     History of Changes
Other Study ID Numbers: ALX-MCD-502, ALX-MCD-502
Study First Received: November 26, 2012
Last Updated: February 15, 2013
Health Authority: United States: Food and Drug Administration

Keywords provided by Alexion Pharmaceuticals:
Natural history study

Additional relevant MeSH terms:
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on May 16, 2013