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

This study has been completed.
Information provided by (Responsible Party):
Alexion Pharmaceuticals Identifier:
First received: November 26, 2012
Last updated: July 18, 2016
Last verified: July 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 ]

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 ]

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

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


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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 identifier: NCT01735188

  Show 32 Study Locations
Sponsors and Collaborators
Alexion Pharmaceuticals
  More Information

Responsible Party: Alexion Pharmaceuticals Identifier: NCT01735188     History of Changes
Other Study ID Numbers: ALX-MCD-502
ALX-MCD-502 ( Registry Identifier: ALXN-MCD-502 )
Study First Received: November 26, 2012
Last Updated: July 18, 2016

Keywords provided by Alexion Pharmaceuticals:
Natural history study

Additional relevant MeSH terms:
Metal Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Trace Elements
Growth Substances
Physiological Effects of Drugs processed this record on September 19, 2017