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

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2014 by Alexion Pharmaceuticals
Sponsor:
Information provided by (Responsible Party):
Alexion Pharmaceuticals
ClinicalTrials.gov Identifier:
NCT01735188
First received: November 26, 2012
Last updated: October 9, 2014
Last verified: October 2014

November 26, 2012
October 9, 2014
August 2013
September 2015   (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: 12 months ] [ Designated as safety issue: No ]
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 ]
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: 12 months ] [ Designated as safety issue: No ]
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 ]
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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
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Observational
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Retention:   Samples With DNA
Description:

Plasma, urine, whole blood

Non-Probability Sample

The actual sample size will depend on successful identification of at least 30 MoCD Type A patients

  • Molybdenum Cofactor Deficiency
  • Isolated Sulfite Oxidase Deficiency
Not Provided
  • Living
  • Deceased
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
30
September 2015
September 2015   (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
  2. Deceased patients with unknown genotype (as of Amendment 4)
Both
Not Provided
No
Contact: Alexion Pharmaceuticals (Sponsor) clinicaltrials@alxn.com
Turkey,   Netherlands,   United Kingdom,   Germany,   Spain,   Israel,   Saudi Arabia,   Malaysia,   Tunisia,   Italy,   Poland,   Japan,   United States
 
NCT01735188
ALX-MCD-502, ALX-MCD-502
No
Alexion Pharmaceuticals
Alexion Pharmaceuticals
Not Provided
Not Provided
Alexion Pharmaceuticals
October 2014

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