Open-label study of BMN 701 in patients with late-onset Pompe disease

• Research type

  Research Study

• Full title

  A Phase 1/2 Open-label Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic and Preliminary Efficacy of BMN 701 (GILT-tagged Recombinant human GAA) in Patients with Late-onset Pompe Disease

• IRAS ID

  77180

• Sponsor organisation

  BioMarin Pharmaceutical Inc.

• Eudract number

  2010-023561-22

• Research summary

  OPEN-LABEL STUDY OF BMN 701 IN PATIENTS WITH LATE-ONSET POMPE DISEASE---------------------------------------------------------------------This is a phase 1 / 2 open label first in man study investigating a new molecule, BMN 701 for the treatment of Late-onset Pompe disease. Pompe disease is a progressive, life limiting disease with patients experiencing progressive muscle weakness caused by the accumulation of glycogen in skeletal and cardiac muscle. Glycogen accumulation results from alpha-glucosidase (GAA) deficiency, an enzyme important in glycogen metabolism. Life expectancy is reported to relate to the age of onset of disease, and residual GAA activity, with premature death resulting from respiratory failure. The study molecule utilises a Glycosylation Independent Lysosomal Targeting ??GILT?? tag to deliver recombinant human alpha glucosidase (rhGAA) to lysosomes of skeletal and cardiac muscle via interaction with the IGF-2 cell surface receptor. Licensed rhGAA therapy currently uses other modes of lysosomal delivery. Concentrations of delivered GAA achieved in licensed drugs are low and efficacy limited. It is anticipated that BMN 701 with its GILT tag may be more efficacious at delivering rhGAA to lysosomes. The potential benefits of treatment in a progressive and ultimately fatal condition, in which current medications have limitations, are attractive. This study will take place in 15 hospitals in Europe and the USA. In the UK the study will be conducted at NHS Hospitals. Phase 1 of the study will involve a dose escalation phase to determine the highest tolerated dose, followed by a dose expansion phase until the required number of participants has been enrolled (30).Participants will be on the study for a total of 7.5 months, including a screening period of up to 1 month, 5.5 months of treatment, and 1 month of safety follow up after last dose. During that time participants will undergo a series of tests and assessments, including blood and urine tests, physical examinations, X-rays and ECGs.

• REC name

  North West - Greater Manchester Central Research Ethics Committee

• REC reference

  11/NW/0423

• Date of REC Opinion

  15 Aug 2011

• REC opinion

  Further Information Favourable Opinion