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

March 15, 2019 updated by: Origin Biosciences

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

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

65

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
      • Toronto, Canada
        • Hospital for Sick Children
  • Germany
      • Freiburg, Germany
        • Universitätsklinikum Freiburg
      • Mainz, Germany
        • Universitätsmedizin der Johannes Gutenberg-Universität Mainz
      • München, Germany
        • TU Universitätsklinikum München
      • Offenbach, Germany
        • Fachärztin für Kinder und Jugendmedizin
  • Israel
      • Afula, Israel
        • Haemek Medical Center
      • Haifa, Israel
        • Rambam Medical Center
  • Italy
      • Rome, Italy
        • Ospedale Pediatrico Bambin Gesu - Roma
  • Japan
      • Wakayama, Japan
        • Wakayama Medical University
  • Malaysia
      • Kuala, Malaysia
        • Kuala Lumpur Hospital
  • Netherlands
      • Groningen, Netherlands
        • Beatrix Children's Hospital
      • Leiden, Netherlands
        • Leiden University Medical
  • Poland
      • Warsaw, Poland
        • The Children's Memorial Health Institute
  • Saudi Arabia
      • Riyadh, Saudi Arabia
        • King Fahad Medical City
      • Riyadh, Saudi Arabia
        • Prince Sultan Riyadh Military Medical City
  • Spain
      • Badalona, Spain
        • Germans Trias i Pujol University Hospital
      • Esplugues de Llobregat, Spain
        • Hospital Sant Joan de Déu Barcelona
      • Madrid, Spain
        • Hospital Universitario 12 de Octubre
      • Santiago de Compostela, Spain
        • Hospital Clinico Universitario
      • Sevilla, Spain
        • Hospital Universitario Virgen Del Rocio
  • Tunisia
      • Tunis, Tunisia
        • La Rabta Hospital
  • Turkey
      • Ankara, Turkey
        • Ihsan Dogramaci Children's Hospital
      • Antalya, Turkey
        • Akdeniz University Hospital
      • Izmit, Turkey
        • Çocuk Sağlığı ve Hastalıkları Anabilim Dalı
      • Kayseri, Turkey
        • Kayseri Education and Research Hospital
  • United Kingdom
      • Birmingham, United Kingdom
        • Birmingham Children's Hospital
      • Glasgow, United Kingdom
        • Royal Hospital for Sick Children
      • London, United Kingdom
        • Great Ormond Street Hospital for Children
      • Manchester, United Kingdom
        • Manchester Academic Health Science Centre
  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Massachusetts General Hospital
    • Virginia
      • Charlottesville, Virginia, United States, 22903
        • UVA Health System
    • Washington
      • Woodinville, Washington, United States, 98072
        • Woodinville Pediatrics PLLC

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

The actual sample size will depend on successful identification of at least 30 MoCD Type A patients

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Living
Deceased

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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
12 months

Secondary Outcome Measures

Outcome Measure
Time Frame
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
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Origin Biosciences

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

August 1, 2013

Primary Completion (ACTUAL)

November 1, 2015

Study Completion (ACTUAL)

June 1, 2016

Study Registration Dates

First Submitted

November 26, 2012

First Submitted That Met QC Criteria

November 26, 2012

First Posted (ESTIMATE)

November 28, 2012

Study Record Updates

Last Update Posted (ACTUAL)

March 19, 2019

Last Update Submitted That Met QC Criteria

March 15, 2019

Last Verified

March 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ALX-MCD-502 (REGISTRY: ALXN-MCD-502)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Molybdenum Cofactor Deficiency

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in United Kingdom

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe