scholarly journals Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction

2021 ◽  
Author(s):  
Cindy Li ◽  
Ankit K. Desai ◽  
Punita Gupta ◽  
Katherine Dempsey ◽  
Vikas Bhambhani ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Enzyme Replacement Therapy ◽  
Newborn Screening ◽  
Immune Tolerance ◽  
Early Treatment ◽  
Pompe Disease ◽  
Tolerance Induction ◽  
Immune Tolerance Induction ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease

scholarly journals Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

2012 ◽  
Vol 14 (1) ◽  
pp. 135-142 ◽  
Author(s):  
Yoav H. Messinger ◽  
Nancy J. Mendelsohn ◽  
William Rhead ◽  
David Dimmock ◽  
Eli Hershkovitz ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Immune Tolerance ◽  
Pompe Disease ◽  
Tolerance Induction ◽  
Immune Tolerance Induction ◽  
Enzyme Replacement ◽  
Infantile Pompe Disease

First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Merve Emecen Sanli ◽  
Hacer Ilbilge Ertoy Karagol ◽  
Ayse Kilic ◽  
Ekin Aktasoglu ◽  
Asli Inci ◽  
...  
Keyword(s):  
Immune Tolerance ◽  
Pompe Disease ◽  
Disease Patient ◽  
Tolerance Induction ◽  
Specific Ige ◽  
Immune Tolerance Induction ◽  
Enzyme Replacement ◽  
Pompe Patient ◽  
Fatal Course ◽  
Infantile Pompe Disease

Abstract Objectives Enzyme replacement therapy (ERT) with alglucosidase alfa (rhGAA) has changed the fatal course of infantile Pompe disease, however, development of anti rhGAA antibodies and infusion-associated reactions (IAR) restrict the tolerability and effectiveness of the treatment. Case presentation We describe a successful concomitant immune tolerance induction (ITI) and desensitization protocols in a cross-reactive immunologic material (CRIM) negative 7-month-old male patient. At the age of 5 months and eighth dose of the ERT, the patient developed IAR and his rhGAA specific IgE was negative however, his rhGAA specific IgG titer was as high as 12,800. ITI therapy to suppress antibody formation and a desensitization protocol was devised to be given concomitantly. At the end of 5-week therapy, his fatigue and weakness improved profoundly and a control antidrug antibody level decreased at 800. At the time of the patient’s follow up, he was still on ERT with desensitization at the age of 15 months without any reactions. Conclusions This is the first report in the literature applying concomitant ITI and desensitization protocols in a CRIM negative infantile-onset Pompe disease patient successfully, hence the importance of the case.

scholarly journals Long Term Outcome and Clinical Experience on Immune Tolerance Induction Therapies in Infantile Pompe Disease

2012 ◽  
Vol 105 (2) ◽  
pp. S20
Author(s):  
Suhrad Banugaria ◽  
Sean Prater ◽  
Deeksha Bali ◽  
Catherine Rehder ◽  
Amy Rosenberg ◽  
...  
Keyword(s):  
Clinical Experience ◽  
Immune Tolerance ◽  
Pompe Disease ◽  
Tolerance Induction ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Immune Tolerance Induction ◽  
Infantile Pompe Disease
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