Study of cPMP (Precusor Z) to Treat Molybdenum Cofactor Deficiency (MoCD) Type A

Orphatech Pharmaceuticals

Status and phase

Withdrawn

Phase 2

Phase 1

Conditions

Molybdenum Cofactor Deficiency Type A

Treatments

Drug: cPMP

Study type

Interventional

Funder types

Industry

Identifiers

NCT00957749

cPMP01-08

Details and patient eligibility

About

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.

Enrollment

10 estimated patients

Sex

All

Ages

Under 6 weeks old

Volunteers

No Healthy Volunteers

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)

Exclusion criteria