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

This study is currently recruiting participants. (see Contacts and Locations)
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
  Purpose

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 Intervention
Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
Other: No treatment

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: September 2014 ] [ 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: September 2014 ] [ Designated as safety issue: No ]

Estimated Enrollment: 30
Study Start Date: August 2013
Estimated Study Completion Date: December 2014
Estimated Primary Completion Date: December 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
No treatment Other: No treatment

  Eligibility

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 patients with MoCD or isolated SOX deficiency

Criteria

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

  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

Contacts
Contact: Alexion Pharmaceuticals (Sponsor) clinicaltrials@alxn.com

Locations
United States, Washington
Recruiting
Woodinville, Washington, United States, 98072
Contact: Alexion Pharmaceuticals (Sponsor)       clinicaltrials@alxn.com   
Israel
Recruiting
Haifa, Israel, 31096
Contact: Alexion Pharmaceuticals (Sponsor)       clinicaltrials@alxn.com   
Spain
Recruiting
Badalona, Catalonia, Spain, 08916
Contact: Alexion Pharmaceuticals (Sponsor)       clinicaltrials@alxn.com   
Recruiting
Esplugues de Llobregat, Spain, 08950
Contact: Alexion Pharmaceuticals (Sponsor)       clinicaltrials@alxn.com   
Recruiting
Madrid, Spain, 28041
Contact: Alexion Pharmaceuticals (Sponsor)       clinicaltrials@alxn.com   
Recruiting
Sevilla, Spain, 41013
Contact: Alexion Pharmaceuticals (Sponsor)       clinicaltrials@alxn.com   
Turkey
Recruiting
Ankara, Turkey, 06100
Contact: Alexion Pharmaceuticals (Sponsor)       clinicaltrials@alxn.com   
Recruiting
Kayseri, Turkey, 38010
Contact: Alexion Pharmaceuticals (Sponsor)       clinicaltrials@alxn.com   
Sponsors and Collaborators
Alexion Pharmaceuticals
  More Information

No publications provided

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: December 3, 2013
Health Authority: United States: Food and Drug Administration
United Kingdom: National Health Service (West of Scotland Research Ethics Service)

Keywords provided by Alexion Pharmaceuticals:
Natural history study

Additional relevant MeSH terms:
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Molybdenum
Trace Elements
Micronutrients
Growth Substances
Physiological Effects of Drugs
Pharmacologic Actions

ClinicalTrials.gov processed this record on July 20, 2014