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

NCT01735188 | Completed

• 1 other identifier: ALX-MCD-502
• Study Type: observational
• Target: 65
• Locations: 13 countries
• Sites: 31

Brief Summary

Primary objective: Characterize the natural history of MoCD type A in terms of survival Secondary objectives:

1. 1.Evaluate blood and urine for biochemical markers
2. 2.Evaluate head circumference, seizure activity and neurologic outcomes
3. 3.To evaluate brain MRI
4. 4.Compare blood and urine analysis, head circumference, seizure activity and neurologic outcomes to MRI findings

Conditions

Molybdenum Cofactor Deficiency; Isolated Sulfite Oxidase Deficiency

Keywords

Natural history study

Outcome Measures

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

  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.

  12 months

Study Arms (2)

Living

Deceased

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• Diagnosis of MoCD or isolated SOX deficiency
• Documented informed consent

You may not qualify if:

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

Sponsors & Collaborators

• Origin Biosciences: lead

Study Sites (32)

Massachusetts General Hospital

Boston, Massachusetts, 02115, United States

Location

UVA Health System

Charlottesville, Virginia, 22903, United States

Location

Woodinville Pediatrics PLLC

Woodinville, Washington, 98072, United States

Location

Hospital for Sick Children

Toronto, Canada

Location

Universitätsklinikum Freiburg

Freiburg im Breisgau, Germany

Location

Universitätsmedizin der Johannes Gutenberg-Universität Mainz

Mainz, Germany

Location

TU Universitätsklinikum München

München, Germany

Location

Fachärztin für Kinder und Jugendmedizin

Offenbach, Germany

Location

HaEmek Medical Center

Afula, Israel

Location

Rambam Medical Center

Haifa, Israel

Location

Ospedale Pediatrico Bambin Gesu - Roma

Rome, Italy

Location

Wakayama Medical University

Wakayama, Japan

Location

Kuala Lumpur Hospital

Kuala, Malaysia

Location

Beatrix Children's Hospital

Groningen, Netherlands

Location

Leiden University Medical

Leiden, Netherlands

Location

The Children's Memorial Health Institute

Warsaw, Poland

Location

King Fahad Medical City

Riyadh, Saudi Arabia

Location

Prince Sultan Riyadh Military Medical City

Riyadh, Saudi Arabia

Location

Germans Trias i Pujol University Hospital

Badalona, Spain

Location

Hospital Sant Joan de Déu Barcelona

Esplugues de Llobregat, Spain

Location

Hospital Universitario 12 de Octubre

Madrid, Spain

Location

Hospital Clinico Universitario

Santiago de Compostela, Spain

Location

Hospital Universitario Virgen del Rocio

Seville, Spain

Location

La Rabta Hospital

Tunis, Tunisia

Location

Ihsan Dogramaci Children's Hospital

Ankara, Turkey (Türkiye)

Location

Akdeniz University Hospital

Antalya, Turkey (Türkiye)

Location

Çocuk Sağlığı ve Hastalıkları Anabilim Dalı

İzmit, Turkey (Türkiye)

Location

Kayseri Education and Research Hospital

Kayseri, Turkey (Türkiye)

Location

Birmingham Children's Hospital

Birmingham, United Kingdom

Location

Royal Hospital for Sick Children

Glasgow, United Kingdom

Location

Great Ormond Street Hospital for Children

London, United Kingdom

Location

Manchester Academic Health Science Centre

Manchester, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Plasma, urine, whole blood

MeSH Terms

Conditions

Molybdenum cofactor deficiency

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 26, 2012
• First Posted: November 28, 2012
• Study Start: August 1, 2013
• Primary Completion: November 1, 2015
• Study Completion: June 1, 2016
• Last Updated: March 19, 2019

Record last verified: 2019-03

Locations

US (3); GB (4); DE (4); JP (1); IT (1); ES (5); NL (2); SA (2); TU (4); MY (1); PL (1); CA (1); IL (2)