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

Molybdenum Cofactor Deficiency Clinical Trial

Official title:

A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01735188
• Other study ID #: ALX-MCD-502
• Secondary ID: ALX-MCD-502
• Status: Completed
• Start date: August 2013
• Est. completion date: June 2016

Study information

• Verified date: March 2019
• Source: Origin Biosciences
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 65
• Est. completion date: June 2016
• Est. primary completion date: November 2015
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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)

Related Conditions & MeSH terms

• Amino Acid Metabolism, Inborn Errors
• Isolated Sulfite Oxidase Deficiency
• Molybdenum Cofactor Deficiency

Locations

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

Sponsors (1)

Lead Sponsor	Collaborator
Origin Biosciences

Countries where clinical trial is conducted

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

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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