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Two years experience of the treatment of molybdenum cofactor deficiency
  1. S Bowhay
  1. NHS Greater Glasgow & Clyde

Abstract

The Pharmaceutical Challenges of Cyclic Pyranopterin Monophosphate (cPMP)

Aims To provide a brief overview of the disease, molybdenum cofactor deficiency (MOCD) and its prognosis.

To share the experiences and challenges in the sourcing, storage, manipulation, supply and administration of the novel product cPMP.

Methods MOCD is an inherited metabolic disease in which the molybdenum dependant enzymes (sulfite oxidase, xanthine oxidase and aldehyde dehydrogenase) are unable to perform their normal metabolic processes. There are four separate subtypes but all are characterised by progressive neurological damage associated with sulfite accumulation.1 There is significant morbidity and death usually occurs in early life.

MOCD Type A is characterised by a disorder early in the production of molybdenum cofactor.

Until recently there has been no treatment for MOCD Type A, however in 2009 Veldman et al2 reported on the successful intravenous treatment with an E coli derived pre-cursor of molybdenum co-factor calledcPMP.

In December 2009 a male child was born to consanguineous parents with a family history of MOCD. Diagnosis was made and following ethical and financial approval treatment was started on day 4 of life. In April 2010 a second child was born to a separate family with no history of the disease. Diagnosis was made and following ethical and financial approval treatment was started on day 1 of life.

The nature of the product and the necessity for lifelong daily injections has led to challenges in the provision of this treatment for these two children.

These challenges include: Ethical approval for treatment; financial approval for treatment; importation; storage requirements at −80°C; preparation of an acceptable product for hospital and home use; dealing with variable concentrations; planning for home use (including storage and administration).

Results Both children remain on treatment and have passed their second birthdays. Both children have had admissions for line associated infections but are generally well.

The older child is developing with near normal milestones being met, whilst the younger child has significant neurological impairment.

Conclusions Until recently the provision of care to children with MOCD has largely been palliative. The experience in these two children suggest that the longer term treatment of the disease is possible and that near normal development can be possible in a disease that was previously fatal.

The ongoing use of cPMP in these patients presents some challenges in supply of a product appropriate for use.

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