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

Completed

• Conditions: Molybdenum Cofactor Deficiency; Isolated Sulfite Oxidase Deficiency

• Registration Number: NCT01735188
• Lead Sponsor: Origin Biosciences

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

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2012-11-26
• Study First Submitted QC: 2012-11-26
• Study First Posted: 2012-11-28
• Study Start: 2013-08
• Primary Completion: 2015-11
• Study Completion: 2016-06
• Status Verified: 2019-03
• Last Update Submitted: 2019-03-15
• Last Update Posted: 2019-03-19

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 65

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival	12 months

Secondary Outcome Measures

Name	Time	Method
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.	12 months

Trial Locations

Locations (32)

Fachärztin für Kinder und Jugendmedizin; 🇩🇪 Offenbach, Germany

Massachusetts General Hospital; 🇺🇸 Boston, Massachusetts, United States

Hospital for Sick Children; 🇨🇦 Toronto, Canada

HaEmek Medical Center; 🇮🇱 Afula, Israel

Rambam Medical Center; 🇮🇱 Haifa, Israel

UVA Health System; 🇺🇸 Charlottesville, Virginia, United States

Woodinville Pediatrics PLLC; 🇺🇸 Woodinville, Washington, United States

Universitätsklinikum Freiburg; 🇩🇪 Freiburg, Germany

Universitätsmedizin der Johannes Gutenberg-Universität Mainz; 🇩🇪 Mainz, Germany

TU Universitätsklinikum München; 🇩🇪 München, Germany

Ospedale Pediatrico Bambin Gesu - Roma; 🇮🇹 Rome, Italy

Wakayama Medical University; 🇯🇵 Wakayama, Japan

Prince Sultan Riyadh Military Medical City; 🇸🇦 Riyadh, Saudi Arabia

Germans Trias i Pujol University Hospital; 🇪🇸 Badalona, Spain

Hospital Universitario Virgen del Rocio; 🇪🇸 Sevilla, Spain

Çocuk Sağlığı ve Hastalıkları Anabilim Dalı; 🇹🇷 Izmit, Turkey

Kayseri Education and Research Hospital; 🇹🇷 Kayseri, Turkey

Royal Hospital for Sick Children; 🇬🇧 Glasgow, United Kingdom

Hospital Universitario 12 de Octubre; 🇪🇸 Madrid, Spain

Kuala Lumpur Hospital; 🇲🇾 Kuala, Malaysia

Leiden University Medical; 🇳🇱 Leiden, Netherlands

Hospital Sant Joan de Déu Barcelona; 🇪🇸 Esplugues de Llobregat, Spain

Ihsan Dogramaci Children's Hospital; 🇹🇷 Ankara, Turkey

Beatrix Children's Hospital; 🇳🇱 Groningen, Netherlands

The Children's Memorial Health Institute; 🇵🇱 Warsaw, Poland

Hospital Clinico Universitario; 🇪🇸 Santiago de Compostela, Spain

La Rabta Hospital; 🇹🇳 Tunis, Tunisia

Akdeniz University Hospital; 🇹🇷 Antalya, Turkey

King Fahad Medical City; 🇸🇦 Riyadh, Saudi Arabia

Birmingham Children's Hospital; 🇬🇧 Birmingham, United Kingdom

Manchester Academic Health Science Centre; 🇬🇧 Manchester, United Kingdom

Great Ormond Street Hospital for Children; 🇬🇧 London, United Kingdom