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CompletedNCT01735188Updated Mar 19, 2019

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

An observational study in Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase Deficiency, sponsored by Origin Biosciences. Completed at 32 sites in 14 countries. Per ClinicalTrials.gov, last updated 2019-03-19.

Sponsored by Origin Biosciences · Observational

Study type
Observational
Model
Other
Time perspective
Other
Enrollment
65
Sex
All
01

Study 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
02

Conditions studied

  • Molybdenum Cofactor Deficiency
  • Isolated Sulfite Oxidase Deficiency

Keywords

  • Natural history study
03

In context

Amino Acid Metabolism, Inborn Errors

29 studies on the registry are indexed under Amino Acid Metabolism, Inborn Errors; 8 are open to participants now.

This study's enrollment of 65 is close to the median of 60 across 11 observational studies indexed under Amino Acid Metabolism, Inborn Errors.

Browse Amino Acid Metabolism, Inborn Errors studies →

Lead sponsor

Origin Biosciences is the lead sponsor of 5 studies on the registry; none are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

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

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

Exclusion Criteria:

  1. MoCD Type A patient who was in Study ALX-MCD-501
  2. Deceased patients with unknown genotype (as of Amendment 4)
05

Study design

Observational model
Other
Time perspective
Other
Enrollment
65 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • Living
  • Deceased
06

What researchers measure

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

    Time frame: 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.

    Time frame: 12 months

07

Study locations

32 sites
  • Massachusetts General Hospital
    Boston, Massachusetts 02115, United States
  • UVA Health System
    Charlottesville, Virginia 22903, United States
  • Woodinville Pediatrics PLLC
    Woodinville, Washington 98072, United States
  • Hospital for Sick Children
    Toronto, Canada
  • Universitätsklinikum Freiburg
    Freiburg, Germany
  • Universitätsmedizin der Johannes Gutenberg-Universität Mainz
    Mainz, Germany
  • TU Universitätsklinikum München
    München, Germany
  • Fachärztin für Kinder und Jugendmedizin
    Offenbach, Germany
  • HaEmek Medical Center
    Afula, Israel
  • Rambam Medical Center
    Haifa, Israel
  • Ospedale Pediatrico Bambin Gesu - Roma
    Rome, Italy
  • Wakayama Medical University
    Wakayama, Japan
  • Kuala Lumpur Hospital
    Kuala, Malaysia
  • Beatrix Children's Hospital
    Groningen, Netherlands
  • Leiden University Medical
    Leiden, Netherlands
  • The Children's Memorial Health Institute
    Warsaw, Poland
  • King Fahad Medical City
    Riyadh, Saudi Arabia
  • Prince Sultan Riyadh Military Medical City
    Riyadh, Saudi Arabia
  • 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, Spain
  • La Rabta Hospital
    Tunis, Tunisia
  • Ihsan Dogramaci Children's Hospital
    Ankara, Turkey
  • Akdeniz University Hospital
    Antalya, Turkey
  • Çocuk Sağlığı ve Hastalıkları Anabilim Dalı
    Izmit, Turkey
  • Kayseri Education and Research Hospital
    Kayseri, Turkey
  • 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 Kingdom
08

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Mar 19, 2019, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT01735188
Lead sponsor
Origin Biosciences
Responsible party
Sponsor
First posted
Nov 28, 2012
Start date
Aug 2013
Primary completion
Nov 2015
Completion
Jun 2016
Last update
Mar 19, 2019

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Mar 2019. You cannot join it, but the record below documents what was studied.

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