A Race Against Time—Changing the Natural History of CRIM Negative Infantile Pompe Disease

Gupta, Punita; Shayota, Brian J.; Desai, Ankit K.; Kiblawi, Fuad; Myridakis, Dorothy; Messina, John; Tah, Peter; Tambini-King, Lorien; Kishnani, Priya S.

doi:10.3389/fimmu.2020.01929

Cited by 8 publications

(5 citation statements)

References 31 publications

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“…The newborns were then divided into groups LDR, HDR, and PBS, and transferred into a hyperoxic chamber (ProOx‐820; Ta Wang Technology Co. Ltd) for 5 days (oxygen room equipment diagram: Figure ). The neonates in groups LDR, HDR, and PBS were daily intraperitoneally injected rituximab 20, 40, or 0 mg/kg, respectively 27 . The reagent rituximab (Roche h0284/sh0166, Switzerland) was purchased from the Affiliated Hospital, Chengdu University of Traditional Chinese Medicine.…”

Section: Methodsmentioning

confidence: 99%

“…The neonates in groups LDR, HDR, and PBS were daily intraperitoneally injected rituximab 20, 40, or 0 mg/kg, respectively. 27 The reagent rituximab (Roche h0284/ sh0166, Switzerland) was purchased from the Affiliated Hospital, Chengdu University of Traditional Chinese Medicine. Comparatively, the pups within the CTL group were reared under a conventional environment.…”

Section: Animal Modelmentioning

confidence: 99%

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Hyperoxia combined with the B‐cell antagonist rituximab led to intestinal dysbiosis in neonatal mice

Yang¹,

He³

et al. 2022

Microbiology and Immunology

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The adverse factors impacting the intestinal microbiota of newborns remain to be elucidated. We put forward a hypothesis that hyperoxia in combination with rituximab exhibits a synergistic effect that interferes with neonatal intestinal microbiota. Six C57BL/6J mice, aged 12 weeks and pregnant 18 days, were purchased. Their pups were breastfed and raised under a 75% oxygen or conventional environment. Low-(20 mg/kg) and high-dose (40 mg/kg) rituximab were intraperitoneally administered. Fecal genomic DNA was extracted and sequenced by a 16S rRNA platform. Severe intestinal dysbiosis in newborns were observed, whereas mild dysbiosis was caused by inducing hyperoxia alone, confirming the synergistic interference of the combination of hyperoxia and B-cell antagonist (rituximab) in neonatal intestinal microbiota disruption. Slight dysbiosis was observed in the intestinal microbiota of dams, indicating their much robust ability to confront hyperoxic conditions. The abundance of Akkermansia muciniphila was significantly and extensively altered in both pups and dams after being subjecting them to hyperoxic conditions with or without rituximab administration. In conclusion, this work demonstrated that the synergistic effect of hyperoxia and rituximab led to severe intestinal dysbiosis in newborns. More studies are recommended to explore the precise regulatory mode between hyperoxia and rituximab in intestinal microbiota.

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Section: Methodsmentioning

confidence: 99%

Section: Animal Modelmentioning

confidence: 99%

Hyperoxia combined with the B‐cell antagonist rituximab led to intestinal dysbiosis in neonatal mice

Yang¹,

He³

et al. 2022

Microbiology and Immunology

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“… 9 , 10 Unless treated with immunomodulation before the first exposure to rhGAA, 11 patients who are immunologically naive to GAA (cross-reactive immunologic material [CRIM] negative) develop far greater antibody titers than those who are CRIM positive. 12 , 13 In most cases, variants resulting in premature termination codons lead to nonsense-mediated decay of GAA transcripts that is associated with CRIM-negative status. 12 …”

Section: Introductionmentioning

confidence: 99%

Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells

Christensen,

Kan,

Andrade-Heckman

et al. 2024

Molecular Therapy - Nucleic Acids

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“…Limited effects of ERT and identification of negative outcome predictors led to treatment modifications in recent years such as variations of ERT dosage and frequency, immunomodulation, and implementation of newborn screening in some countries [11,[15][16][17]. Real-world studies from different countries have reported longer follow-up data with regard to motor and respiratory function, while other investigations have analyzed specific aspects of IOPD such as cardiac and cognitive function in older children [14,18].…”

Section: Introductionmentioning

confidence: 99%

Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort

Pfrimmer,

Smitka,

Muschol

et al. 2023

Journal of Neuromuscular Diseases

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Background: Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) was approved in Europe in 2006. Nevertheless, data on the long-term outcome of infantile onset Pompe disease (IOPD) patients at school age is still limited. Objective: We analyzed in detail cardiac, respiratory, motor, and cognitive function of 15 German-speaking patients aged 7 and older who started ERT at a median age of 5 months. Results: Starting dose was 20 mg/kg biweekly in 12 patients, 20 mg/kg weekly in 2, and 40 mg/kg weekly in one patient. CRIM-status was positive in 13 patients (86.7%) and negative or unknown in one patient each (6.7%). Three patients (20%) received immunomodulation. Median age at last assessment was 9.1 (7.0–19.5) years. At last follow-up 1 patient (6.7%) had mild cardiac hypertrophy, 6 (42.9%) had cardiac arrhythmias, and 7 (46.7%) required assisted ventilation. Seven patients (46.7%) achieved the ability to walk independently and 5 (33.3%) were still ambulatory at last follow-up. Six patients (40%) were able to sit without support, while the remaining 4 (26.7%) were tetraplegic. Eleven patients underwent cognitive testing (Culture Fair Intelligence Test), while 4 were unable to meet the requirements for cognitive testing. Intelligence quotients (IQs) ranged from normal (IQ 117, 102, 96, 94) in 4 patients (36.4%) to mild developmental delay (IQ 81) in one patient (9.1%) to intellectual disability (IQ 69, 63, 61, 3x <55) in 6 patients (54.5%). White matter abnormalities were present in 10 out of 12 cerebral MRIs from 7 patients. Conclusion: Substantial motor, cardiac, respiratory, and cognitive deficits are frequent in IOPD long-term survivors who started ERT before 2016. The findings of this study can be valuable as comparative data when evaluating the impact of newer treatment strategies including higher enzyme dosage, immunomodulation, modified enzymes, or early start of treatment following newborn screening.

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A Race Against Time—Changing the Natural History of CRIM Negative Infantile Pompe Disease

Cited by 8 publications

References 31 publications

Hyperoxia combined with the B‐cell antagonist rituximab led to intestinal dysbiosis in neonatal mice

Hyperoxia combined with the B‐cell antagonist rituximab led to intestinal dysbiosis in neonatal mice

Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells

Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort

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