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

This study is currently recruiting participants.
Verified December 2013 by Alexion Pharmaceuticals
Sponsor:
Information provided by (Responsible Party):
Alexion Pharmaceuticals
ClinicalTrials.gov Identifier:
NCT01735188
First received: November 26, 2012
Last updated: December 3, 2013
Last verified: December 2013

November 26, 2012
December 3, 2013
August 2013
December 2014   (final data collection date for primary outcome measure)
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 ]
Same as current
Complete list of historical versions of study NCT01735188 on ClinicalTrials.gov Archive Site
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 ]
Same as current
Not Provided
Not Provided
 
A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
A NATURAL HISTORY STUDY OF MOLYBDENUM COFACTOR AND ISOLATED SULFITE OXIDASE DEFICIENCIES

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
Not Provided
Observational
Not Provided
Not Provided
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Non-Probability Sample

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

Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Other: No treatment
No treatment
Intervention: Other: No treatment
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
30
December 2014
December 2014   (final data collection date for primary outcome measure)

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

Both
Not Provided
No
Contact: Alexion Pharmaceuticals (Sponsor) clinicaltrials@alxn.com
United States,   Israel,   Spain,   Turkey
 
NCT01735188
ALX-MCD-502, ALX-MCD-502
No
Alexion Pharmaceuticals
Alexion Pharmaceuticals
Not Provided
Not Provided
Alexion Pharmaceuticals
December 2013

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP