Molybdenum Cofactor DeficiencyNCT01735188
A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies
An observational study of Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase Deficiency, run by Origin Biosciences at 32 sites in 14 countries.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Molybdenum Cofactor Deficiency, Isolated Sulfite Oxidase Deficiency
- How many people
- 65 participants
- Where
- 32 sitesin 14 countries
- Study dates
- Aug 2013to Jun 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The actual sample size will depend on successful identification of at least 30 MoCD Type A patients
Who may be able to join
- Both living and deceased patients of any age will be considered for study inclusion.
- Diagnosis of MoCD or isolated SOX deficiency
- Documented informed consent
Who cannot join
- MoCD Type A patient who was in Study ALX-MCD-501
- Deceased patients with unknown genotype (as of Amendment 4)
Trial locations and contacts
32 sites in 14 countries.
32 sites in 14 countries
Spain5 sites
Germans Trias i Pujol University Hospital
Badalona
Hospital Sant Joan de Déu Barcelona
Esplugues de Llobregat
Hospital Universitario 12 de Octubre
Madrid
Hospital Clinico Universitario
Santiago de Compostela
Hospital Universitario Virgen del Rocio
Seville
Germany4 sites
Universitätsklinikum Freiburg
Freiburg im Breisgau
Universitätsmedizin der Johannes Gutenberg-Universität Mainz
Mainz
TU Universitätsklinikum München
München
Fachärztin für Kinder und Jugendmedizin
Offenbach
Turkey (Türkiye)4 sites
Ihsan Dogramaci Children's Hospital
Ankara
Akdeniz University Hospital
Antalya
Çocuk Sağlığı ve Hastalıkları Anabilim Dalı
İzmit
Kayseri Education and Research Hospital
Kayseri
United Kingdom4 sites
Birmingham Children's Hospital
Birmingham
Royal Hospital for Sick Children
Glasgow
Great Ormond Street Hospital for Children
London
Manchester Academic Health Science Centre
Manchester
United States3 sites
Massachusetts General Hospital
Boston, Massachusetts, 02115
UVA Health System
Charlottesville, Virginia, 22903
Woodinville Pediatrics PLLC
Woodinville, Washington, 98072
Netherlands2 sites
Beatrix Children's Hospital
Groningen
Leiden University Medical
Leiden
Saudi Arabia2 sites
King Fahad Medical City
Riyadh
Prince Sultan Riyadh Military Medical City
Riyadh
About this study
Official title: A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies
Primary objective:
Characterize the natural history of MoCD type A in terms of survival
Secondary objectives:
- Evaluate blood and urine for biochemical markers
- Evaluate head circumference, seizure activity and neurologic outcomes
- To evaluate brain MRI
- Compare blood and urine analysis, head circumference, seizure activity and neurologic outcomes to MRI findings
- Keywords
- Natural history study
- Medical subject headings
- Molybdenum cofactor deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Living | Not described | |
| Deceased | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival
Measured: 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.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Nov 2012 (estimated)
- Study startAug 2013
- Primary completionNov 2015
- Study completionJun 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Molybdenum Cofactor DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 65 participants (actual)
Sponsor and investigators
- Lead sponsor
- Origin Biosciences
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01735188
- Sponsor's protocol ID
- ALX-MCD-502
- Other IDs
- ALX-MCD-502
- Status last verified
- Mar 2019
- First submitted
- 26 Nov 2012
- Last updated
- 19 Mar 2019
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Mar 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies
- ClinicalTrials.gov ID
- NCT01735188
- Acronym / sponsor ID
- ALX-MCD-502
- Keywords
- Natural history study
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 65 participants (actual)
- Lead sponsor
- Origin BiosciencesIndustry (pharma, biotech, devices)
- Study start
- Aug 2013
- Primary completion
- Nov 2015 (actual)
- Study completion
- Jun 2016 (actual)
- First posted
- 28 Nov 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Primary objective:
Characterize the natural history of MoCD type A in terms of survival
Secondary objectives:
- Evaluate blood and urine for biochemical markers
- Evaluate head circumference, seizure activity and neurologic outcomes
- To evaluate brain MRI
- Compare blood and urine analysis, head circumference, seizure activity and neurologic outcomes to MRI findings
Study design
- Observational model
- Other
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Living | – | – |
| Deceased | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The actual sample size will depend on successful identification of at least 30 MoCD Type A patients
Key inclusion criteria (3 listed)
- Both living and deceased patients of any age will be considered for study inclusion.
- Diagnosis of MoCD or isolated SOX deficiency
- Documented informed consent
Key exclusion criteria (2 listed)
- MoCD Type A patient who was in Study ALX-MCD-501
- Deceased patients with unknown genotype (as of Amendment 4)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
1 secondary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Mar 2019.
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Spinal Muscular Atrophy, Fragile X Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
32 sites in 14 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Molybdenum Cofactor Deficiency and Isolated Sulfite Oxidase Deficiency, run by Origin Biosciences at 32 sites in 14 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Mar 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 32 sites in Spain, Germany, Turkey (Türkiye), United Kingdom, United States and 9 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Mar 2019.