|- candidate number||1581|
|- NTR Number||NTR372|
|- Date ISRCTN created||23-feb-2007|
|- date ISRCTN requested||28-okt-2005|
|- Date Registered NTR||12-sep-2005|
|- Secondary IDs||N/A |
|- Public Title||Protocollised follow-up of Pompe patients receiving enzyme replacement therapy on a compassionate use basis.|
|- Scientific Title||Expanded access use of recombinant human Acid Alpha-Glucosidase in patients with Infantile-onset/ Late-onset Pompe Disease.|
|- hypothesis||Enzyme therapy with recombinant human alpha glucosidase results in prolonged survival; improvement or stabilisation of cardiac hypertrophy and function, improvement or stabilisation of pulmonary function and improvement or stabilisation of muscle function and strength.|
|- Healt Condition(s) or Problem(s) studied||Pompe disease|
|- Inclusion criteria||Confirmed diagnosis of Pompe Disease
infantile-onset: age less than 1 year, delayed motor milestones and/or hypertrophic cardiomyopathy.|
late-onset 1.: 24 hour/day artificial ventilation, wheelchair bound or previously enrolled in AGLU 1202 study.
|- Exclusion criteria||Infantile-onset: congenital abnormalities, allergy to food and/or proteins, ventilator dependency;|
Late-onset: developmental delays not explained by Pompe's Disease, allergies and severe co-morbidity.
|- mec approval received||yes|
|- multicenter trial||no|
|- planned startdate ||1-jan-1999|
|- planned closingdate||1-jan-2050|
|- Target number of participants||12|
|- Interventions||Enzyme replacement therapy.|
|- Primary outcome||Infantile: Survival;|
Late-onset: Improvement and/or stabilisation of muscle function.
|- Secondary outcome||Infantile: improvement of cardiac hypertrophy and function, achievement of motor milestones;|
Late-onset: improvement and/or stabilisation of pulmonary function, improvement of quality of life.
|- Trial web site||N/A|
|- status||open: patient inclusion|
|- CONTACT FOR PUBLIC QUERIES||Dr. A. Ploeg, van der|
|- CONTACT for SCIENTIFIC QUERIES||Dr. A. Ploeg, van der|
|- Sponsor/Initiator ||Erasmus Medical Center, Sophia Children's Hospital|
(Source(s) of Monetary or Material Support)
|- Publications||Recombinant human alpha-glucosidase from rabbit milk in Pompa patients (The Lancet 2000).|
Enzyme therapy for pompe's disease with recombinant human alpha-glucosidase from rabbit milk (J. Inherit. Metab. Dis. 2001)
Long term IV treatment of pompe's disease with recombinant human alpha-glucosidase from milk (pediatrics 2004)
Enzyme replacement therapy in late-onset Pompe's disease: a three year follow-up (Ann. Neurology 2004)
Morphological changes in muscle tissue of patients with Infantile Pompe's disease receiving enzym replacement therapy (Muscle Nerv 2003).
|- Brief summary||Protocollised follow-up of cardio-pulmonary function and musculo-skeletal functio in Pompe patients receiving enzyme replacement therapy on a compessionate use basis. |
|- Main changes (audit trail)|
|- RECORD||12-sep-2005 - 23-feb-2007|