Molybdenum Cofactor Deficiency Type APhase 1/2NCT00957749
Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type A
A Phase 1/2 study testing cPMP in people with Molybdenum Cofactor Deficiency Type A, run by Orphatech Pharmaceuticals, GmbH at 1 site in Australia.
Trial summary
Molybdenum Cofactor Deficiency Type A (MoCD) is a very rare autosomal recessive disorder that is essentially fatal early in life. Naturally occurring cPMP is present in the body of all healthy normal individuals. It is processed to molybdopterin, which is further processed to molybdenum cofactor. Read more about this study
- Who is it for?
- Ages Up to 6 weeks
- Conditions the study is for
- Molybdenum Cofactor Deficiency Type A
- What is being tested?
- cPMP
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteAustralia
- Study dates
- Aug 2009to Apr 2010
- Phase
- Phase 1/2
- 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 Up to 6 weeks
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Neonate or infant, less then 6 weeks at the time of diagnosis, age less than 8 weeks at start of treatment with the study medication. It is important to diagnose the condition and initiate treatment as soon after birth as possible.
- Documented diagnosis of molybdenum cofactor deficiency (MoCD) Type A based on the absence of cPMP and the presence of sulfite and s-sulfocysteine in the urine, absence of urothione in the urine and genetic analysis showing a mutation in the MOCS1 gene
- A parent or legal guardian voluntarily provided written informed consent to participate in the study and comply with study procedures.
- Approval of the study protocol by the local HE / IRB and government or regulatory authorities (if applicable)
Who cannot join
- MoCD Type B (MOCS2 mutation) or Type C (gephyrin gene mutation)
- Sulfite oxidase deficiency
- Patients older than 6 weeks at the time of diagnosis
Trial locations and contacts
1 site in 1 country.
About this study
Official title: A Multicenter, Open-Label Study of the Safety, Tolerability, and Pharmacodynamics of Intravenously Administered cPMP (Precursor Z) in Patients With Molybdenum Cofactor Deficiency Type A
Molybdenum Cofactor Deficiency Type A (MoCD) is a very rare autosomal recessive disorder that is essentially fatal early in life. Naturally occurring cPMP is present in the body of all healthy normal individuals. It is processed to molybdopterin, which is further processed to molybdenum cofactor. Molybdenum cofactor is essential for the function of important enzymes.
There is currently no treatment for MoCD, and affected infants develop severe neurological damage which often results in infant death.
This study is the first clinical trial to investigate the potential of replacement of cPMP to infants with MoCD Type A. The safety, tolerability, and pharmacodynamics of daily intravenous administration of cPMP over 3 months will be determined.
- Conditions
- Molybdenum Cofactor Deficiency Type A
- Being tested
- cPMP
- Medical subject headings
- Molybdenum Cofactor Deficiency, Complementation Group A
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
cPMPDrug
Also called Cyclic pyranopterin monophosphate, Precursor Z
Intravenous solution administered daily. Dose titrated from 80 μg/kg on Days 1-12 to 120 μg/kg on Days 13-34 to 160 μg/kg for days 35-90.
| Study group | Role | What they receive |
|---|---|---|
| cPMP | Experimental | Not described Receives: Drug: cPMP |
What is being measured
The primary outcome is the main question the study is designed to answer.
Urine biomarkers SSC and sulfite
Measured: Daily collection throughout study; analyzed at 3 months
Secondary outcomes (2)
neurological examination
Measured: collected daily; analyzed at 3 months
Safety measures (vital signs, adverse events)
Measured: collected daily; analyzed at 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Aug 2009 (estimated)
- Study startAug 2009
- Primary completionApr 2010 (estimated)
Why it stopped: IND application was withdrawn, and therefore study listing is being withdrawn.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Molybdenum Cofactor Deficiency Type AStudies 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
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Orphatech Pharmaceuticals, GmbH
- Sponsor type
- Industry (pharma, biotech, devices)
- Investigators
- Alex Veldman, MD, Principal investigator, Monash Medical Centre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00957749
- Sponsor's protocol ID
- cPMP01-08
- Status last verified
- Jan 2011
- First submitted
- 10 Jul 2009
- Last updated
- 1 Feb 2011
- Results posted
- No
- Data monitoring committee
- No
Publications
Schwarz G, Santamaria-Araujo JA, Wolf S, Lee HJ, Adham IM, Grone HJ, Schwegler H, Sass JO, Otte T, Hanzelmann P, Mendel RR, Engel W, Reiss J. Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. Hum Mol Genet. 2004 Jun 15;13(12):1249-55. doi: 10.1093/hmg/ddh136. Epub 2004 Apr 28.
PubMed 15115759
Study at a glance
From the registry record, last updated by the sponsor on 1 Feb 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter, Open-Label Study of the Safety, Tolerability, and Pharmacodynamics of Intravenously Administered cPMP (Precursor Z) in Patients With Molybdenum Cofactor Deficiency Type A
- ClinicalTrials.gov ID
- NCT00957749
- Acronym / sponsor ID
- cPMP01-08
- Conditions
- Molybdenum Cofactor Deficiency Type A
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- WithdrawnReason stopped: IND application was withdrawn, and therefore study listing is being withdrawn.
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Orphatech Pharmaceuticals, GmbHIndustry (pharma, biotech, devices)
- Study start
- Aug 2009
- Primary completion
- Apr 2010 (estimated)
- First posted
- 12 Aug 2009 (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.
Molybdenum Cofactor Deficiency Type A (MoCD) is a very rare autosomal recessive disorder that is essentially fatal early in life. Naturally occurring cPMP is present in the body of all healthy normal individuals. It is processed to molybdopterin, which is further processed to molybdenum cofactor. Molybdenum cofactor is essential for the function of important enzymes.
There is currently no treatment for MoCD, and affected infants develop severe neurological damage which often results in infant death.
This study is the first clinical trial to investigate the potential of replacement of cPMP to infants with MoCD Type A. The safety, tolerability, and pharmacodynamics of daily intravenous administration of cPMP over 3 months will be determined.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| cPMP | Experimental | Drug: cPMP |
Who may qualify
- Ages
- Up to 6 weeks
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- Neonate or infant, less then 6 weeks at the time of diagnosis, age less than 8 weeks at start of treatment with the study medication. It is important to diagnose the condition and initiate treatment as soon after birth as possible.
- Documented diagnosis of molybdenum cofactor deficiency (MoCD) Type A based on the absence of cPMP and the presence of sulfite and s-sulfocysteine in the urine, absence of urothione in the urine and genetic analysis showing a mutation in the MOCS1 gene
- A parent or legal guardian voluntarily provided written informed consent to participate in the study and comply with study procedures.
- Approval of the study protocol by the local HE / IRB and government or regulatory authorities (if applicable)
Key exclusion criteria (3 listed)
- MoCD Type B (MOCS2 mutation) or Type C (gephyrin gene mutation)
- Sulfite oxidase deficiency
- Patients older than 6 weeks at the time of diagnosis
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| cPMPAlso: Cyclic pyranopterin monophosphate, Precursor ZIntravenous solution administered daily. Dose titrated from 80 μg/kg on Days 1-12 to 120 μg/kg on Days 13-34 to 160 μg/kg for days 35-90. | Drug | cPMP |
Primary outcome
Urine biomarkers SSC and sulfite
Time frame: Daily collection throughout study; analyzed at 3 months
2 secondary outcomes
neurological examination
Time frame: collected daily; analyzed at 3 months
Safety measures (vital signs, adverse events)
Time frame: collected daily; analyzed at 3 months
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Feb 2011.
- Background: PubMed 15115759Schwarz G, Santamaria-Araujo JA, Wolf S, Lee HJ, Adham IM, Grone HJ, Schwegler H, Sass JO, Otte T, Hanzelmann P, Mendel RR, Engel W, Reiss J. Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. Hum Mol Genet. 2004 Jun 15;13(12):1249-55. doi: 10.1093/hmg/ddh136. Epub 2004 Apr 28.
Related trials for Molybdenum Cofactor Deficiency Type A
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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.
Alex Veldman, MD principal investigator
Monash Medical Centre
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing cPMP in people with Molybdenum Cofactor Deficiency Type A, run by Orphatech Pharmaceuticals, GmbH at 1 site in Australia.
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 4 inclusion and 3 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: withdrawn, as of the sponsor's last update on 1 Feb 2011. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Australia. 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.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was withdrawn before enrolling participants, so there are no results.
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?
Urine biomarkers SSC and sulfite (time frame: Daily collection throughout study; analyzed at 3 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00957749, which also lists 1 linked publication.
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 1 Feb 2011; AzTrials last refreshed its copy on 7 Nov 2026.