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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01735188
Recruitment Status : Completed
First Posted : November 28, 2012
Last Update Posted : July 19, 2016
Information provided by (Responsible Party):
Alexion Pharmaceuticals

Brief Summary:

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 or disease
Molybdenum Cofactor Deficiency Isolated Sulfite Oxidase Deficiency

Study Type : Observational
Actual Enrollment : 65 participants
Official Title: A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies
Study Start Date : August 2013
Actual Primary Completion Date : November 2015
Actual Study Completion Date : June 2016


Primary Outcome Measures :
  1. 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 :
  1. 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

Information from the National Library of Medicine

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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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01735188

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Sponsors and Collaborators
Alexion Pharmaceuticals

Responsible Party: Alexion Pharmaceuticals Identifier: NCT01735188     History of Changes
Other Study ID Numbers: ALX-MCD-502
ALX-MCD-502 ( Registry Identifier: ALXN-MCD-502 )
First Posted: November 28, 2012    Key Record Dates
Last Update Posted: July 19, 2016
Last Verified: July 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