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

NCT ID: NCT01735188

Last Updated: 2019-03-19

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

65 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-08-31

Study Completion Date

2016-06-30

Brief Summary

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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

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Conditions

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Molybdenum Cofactor Deficiency Isolated Sulfite Oxidase Deficiency

Study Design

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Observational Model Type

OTHER

Study Time Perspective

OTHER

Study Groups

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Living

No interventions assigned to this group

Deceased

No interventions assigned to this group

Eligibility Criteria

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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)
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Origin Biosciences

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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King Fahad Medical City

Riyadh, , Saudi Arabia

Site Status

Prince Sultan Riyadh Military Medical City

Riyadh, , Saudi Arabia

Site Status

Germans Trias i Pujol University Hospital

Badalona, , Spain

Site Status

Hospital Sant Joan de Déu Barcelona

Esplugues de Llobregat, , Spain

Site Status

Hospital Universitario 12 de Octubre

Madrid, , Spain

Site Status

Hospital Clinico Universitario

Santiago de Compostela, , Spain

Site Status

Hospital Universitario Virgen del Rocio

Seville, , Spain

Site Status

La Rabta Hospital

Tunis, , Tunisia

Site Status

Ihsan Dogramaci Children's Hospital

Ankara, , Turkey (Türkiye)

Site Status

Akdeniz University Hospital

Antalya, , Turkey (Türkiye)

Site Status

Massachusetts General Hospital

Boston, Massachusetts, United States

Site Status

UVA Health System

Charlottesville, Virginia, United States

Site Status

Woodinville Pediatrics PLLC

Woodinville, Washington, United States

Site Status

Hospital for Sick Children

Toronto, , Canada

Site Status

Universitätsklinikum Freiburg

Freiburg im Breisgau, , Germany

Site Status

Universitätsmedizin der Johannes Gutenberg-Universität Mainz

Mainz, , Germany

Site Status

TU Universitätsklinikum München

München, , Germany

Site Status

Fachärztin für Kinder und Jugendmedizin

Offenbach, , Germany

Site Status

HaEmek Medical Center

Afula, , Israel

Site Status

Rambam Medical Center

Haifa, , Israel

Site Status

Ospedale Pediatrico Bambin Gesu - Roma

Rome, , Italy

Site Status

Wakayama Medical University

Wakayama, , Japan

Site Status

Kuala Lumpur Hospital

Kuala, , Malaysia

Site Status

Beatrix Children's Hospital

Groningen, , Netherlands

Site Status

Leiden University Medical

Leiden, , Netherlands

Site Status

The Children's Memorial Health Institute

Warsaw, , Poland

Site Status

Çocuk Sağlığı ve Hastalıkları Anabilim Dalı

İzmit, , Turkey (Türkiye)

Site Status

Kayseri Education and Research Hospital

Kayseri, , Turkey (Türkiye)

Site Status

Birmingham Children's Hospital

Birmingham, , United Kingdom

Site Status

Royal Hospital for Sick Children

Glasgow, , United Kingdom

Site Status

Great Ormond Street Hospital for Children

London, , United Kingdom

Site Status

Manchester Academic Health Science Centre

Manchester, , United Kingdom

Site Status

Countries

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United States Canada Germany Israel Italy Japan Malaysia Netherlands Poland Saudi Arabia Spain Tunisia Turkey (Türkiye) United Kingdom

Other Identifiers

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ALX-MCD-502

Identifier Type: REGISTRY

Identifier Source: secondary_id

ALX-MCD-502

Identifier Type: -

Identifier Source: org_study_id

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