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

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

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

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Living
Deceased

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
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

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
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

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
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

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
August 1, 2013

Primary Completion (ACTUAL)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
November 1, 2015

Study Completion (ACTUAL)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
June 1, 2016

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
November 26, 2012

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 26, 2012

First Posted (ESTIMATE)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
November 28, 2012

Study Record Updates

Last Update Posted (ACTUAL)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
March 19, 2019

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 15, 2019

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
March 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant 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.

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