title: CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy.
abstract: Pompe disease, especially in its infantile form, is a fatal disease. Most of the patients with this disease synthesize a nonfunctional form of the enzyme alpha glucosidase (GAA), the deficient enzyme in this disease. Patients producing some amount of this protein are labeled as cross-reactive immunologic material (CRIM)-positive. Few of them are unable to synthesize it and are labeled CRIM-negative. The clinical course of the disease has changed with the advent of enzyme replacement therapy (ERT) with recombinant alpha glucosidase enzyme (rhGAA). However, CRIM-negative patients have always been known to have poor outcome on ERT due to the development of anti-rhGAA antibodies in their bodies that neutralizes ERT efficacy. Here, we describe two CRIM-negative siblings on rhGAA ERT with unusually low anti-rhGAA antibody titer and good clinical outcome. Up to our current knowledge, this is the first report that describes such a good response to ERT in CRIM-negative patients.
authors: Biochemical Genetics, Emory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, GA, 30033, USA.
authors: Hamoud H Al
authors: HHA
authors: Khallaf
authors: Lysosomal Storage Disease Program, Division of Medical Genetics, Emory University, Atlanta, GA, 30033, USA.
authors: Jennifer
authors: J
authors: Propst
authors: Georgia Pediatric Cardiology, Stockbridge, GA, USA.
authors: Serge
authors: S
authors: Geffrard
authors: Lysosomal Storage Disease Program, Division of Medical Genetics, Emory University, Atlanta, GA, 30033, USA.
authors: Eleanor
authors: E
authors: Botha
authors: Biochemical Genetics, Emory Genetics Laboratory, Department of Human Genetics, Emory University, Atlanta, GA, 30033, USA. alipervaiz@emory.edu.
authors: M Ali
authors: MA
authors: Pervaiz