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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/show/NCT00957749




Registration number
NCT00957749
Ethics application status
Date submitted
10/07/2009
Date registered
10/08/2009
Date last updated
29/01/2011

Titles & IDs
Public title
Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type A
Scientific 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
Secondary ID [1] 0 0
cPMP01-08
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Molybdenum Cofactor Deficiency Type A 0 0
Molybdenum Cofactor Deficiency Type A 0 0
Condition category
Condition code
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Metabolic and Endocrine 0 0 0 0
Metabolic disorders
Metabolic and Endocrine 0 0 0 0
Other metabolic disorders

Intervention/exposure
Study type
Interventional
Description of intervention(s) / exposure
Treatment: Drugs - cPMP
Treatment: Drugs - cPMP

Experimental: cPMP -

Experimental: cPMP -


Treatment: Drugs: cPMP
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.

Treatment: Drugs: cPMP
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.

Intervention code [1] 0 0
Treatment: Drugs
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Urine biomarkers SSC and sulfite
Timepoint [1] 0 0
Daily collection throughout study; analyzed at 3 months
Primary outcome [2] 0 0
Urine biomarkers SSC and sulfite
Timepoint [2] 0 0
Daily collection throughout study; analyzed at 3 months
Secondary outcome [1] 0 0
neurological examination
Timepoint [1] 0 0
collected daily; analyzed at 3 months
Secondary outcome [2] 0 0
Safety measures (vital signs, adverse events)
Timepoint [2] 0 0
collected daily; analyzed at 3 months
Secondary outcome [3] 0 0
neurological examination
Timepoint [3] 0 0
collected daily; analyzed at 3 months
Secondary outcome [4] 0 0
Safety measures (vital signs, adverse events)
Timepoint [4] 0 0
collected daily; analyzed at 3 months

Eligibility
Key inclusion criteria
- 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)
Minimum age
No limit
Maximum age
6 Weeks
Gender
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
- MoCD Type B (MOCS2 mutation) or Type C (gephyrin gene mutation)

- Sulfite oxidase deficiency

- Patients older than 6 weeks at the time of diagnosis

Study design
Purpose of the study
Treatment
Allocation to intervention
Non-randomised trial
Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
Methods used to generate the sequence in which subjects will be randomised (sequence generation)
Masking / blinding
Open (masking not used)
Who is / are masked / blinded?



Intervention assignment
Single group
Other design features
Phase
Phase 1/Phase 2
Type of endpoint(s)
Statistical methods / analysis

Recruitment
Recruitment status
Withdrawn
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
Monash Medical Centre - Melbourne
Recruitment postcode(s) [1] 0 0
3168 - Melbourne

Funding & Sponsors
Primary sponsor type
Commercial sector/Industry
Name
Orphatech Pharmaceuticals, GmbH
Address
Country

Ethics approval
Ethics application status

Summary
Brief 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. 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.
Trial website
https://clinicaltrials.gov/show/NCT00957749
Trial related presentations / publications
Schwarz G, Santamaria-Araujo JA, Wolf S, Lee HJ, Adham IM, Gröne HJ, Schwegler H, Sass JO, Otte T, Hänzelmann 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. Epub 2004 Apr 28.
Schwarz G, Santamaria-Araujo JA, Wolf S, Lee HJ, Adham IM, Gröne HJ, Schwegler H, Sass JO, Otte T, Hänzelmann 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. Epub 2004 Apr 28.
Public notes

Contacts
Principal investigator
Name 0 0
Alex Veldman, MD
Address 0 0
Monash Medical Centre
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries

Summary results
For IPD and results data, please see https://clinicaltrials.gov/show/NCT00957749