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

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Alexion Pharmaceuticals
ClinicalTrials.gov Identifier:
First received: November 26, 2012
Last updated: February 17, 2016
Last verified: February 2016

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

Molybdenum Cofactor Deficiency
Isolated Sulfite Oxidase Deficiency

Study Type: Observational
Official Title: A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies

Resource links provided by NLM:

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: 12 months ] [ 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: 12 months ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA
Plasma, urine, whole blood

Enrollment: 65
Study Start Date: August 2013
Estimated Study Completion Date: April 2016
Primary Completion Date: November 2015 (Final data collection date for primary outcome measure)


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 at least 30 MoCD Type A patients

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)
  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: NCT01735188

  Show 32 Study Locations
Sponsors and Collaborators
Alexion Pharmaceuticals
  More Information

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 17, 2016
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
Metal Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on May 30, 2016