Skip to main content
OpenTrials
Completed

NCT Number: NCT01735188

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

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Molybdenum Cofactor Deficiency Isolated Sulfite Oxidase Deficiency

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital for Sick Children, Toronto, Canada

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Both living and deceased patients of any age will be considered for study inclusion.
  • Diagnosis of MoCD or isolated SOX deficiency
  • Documented informed consent

Exclusion criteria

  • MoCD Type A patient who was in Study ALX-MCD-501
  • Deceased patients with unknown genotype (as of Amendment 4)

Treatment and study plan

Primary outcomes

  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 outcomes

  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

Sponsors and collaborators

Lead sponsor

Origin Biosciences

Industry

Registry information

Important dates

Study start
2013
Primary completion
2015
Study completion
2016
First posted
Nov 28, 2012
Registry last updated
Mar 19, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.