Anupam Chakrapani

Early use of talicabtagene autoleucel in r/r B-acute lymphoblastic leukemia is cost-effective: Improved efficacy, reduced toxicity and healthcare resource utilization support affordable access

Atharva Karulkar, Hasmukh Jain, Devanshi Kalra, Smrithi Ravikumar et autres

Abstract Background: In India, access to curative therapies for relapsed/refractory B-cell acute lymphoblastic leukemia (r/r B-ALL) remains limited due to restricted availability of allogeneic transplants and monoclonal antibodies. Talicabtagene autoleucel (Tali-cel), a CD19-directed humanized CAR-T cell therapy, was recently approved as the …

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EE316 An Iterative Survey of Phenylketonuria (PKU) Medical Experts to Inform Health Economic Modeling Methods

Rongrong Zhang, Anupam Chakrapani, T Hamazaki, Melissa D. Lah et autres

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EE656 Challenges in Health-Economic Modeling of Phenylketonuria (PKU): A Targeted Review of HTA Evaluations

Anupam Chakrapani, T Hamazaki, Melissa D. Lah, Ania Carolina Muntau et autres

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Primary Appendiceal Lymphoma Presenting as Perforated Appendicitis: A Case Report

Bipasha Sinha, Arpita Sutradhar, Vivek Goel, Anupam Chakrapani

Primary appendiceal lymphoma is very rare, representing about 0.015% of gastrointestinal lymphomas. It is difficult to diagnose clinically, as most cases present with symptoms resembling acute appendicitis. Here, we present a case of appendiceal lymphoma that presented with acute perforation, diagnosed through …

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Correlation of Flame Cells and Two Monoclonal Bands in Beta and Gamma Region in IgA Multiple Myeloma

Bilal Kazi, Anupam Chakrapani

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Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK

Karen Bean, Simon Allan Jones, Anupam Chakrapani, Suresh Vijay et autres

Metachromatic leukodystrophy (MLD) is a fatal inherited lysosomal storage disease that can be detected through newborn bloodspot screening. The feasibility of the screening assay and the clinical rationale for screening for MLD have been previously demonstrated, so the aim of this study …

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Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study

Angela Schulz, Nicola Specchio, Emily de los Reyes, Paul Gissen et autres

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The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria

Sonam Gurung, Saketh R. Karamched, Dany P.B. Perocheau, Kiran K. Seunarine et autres

Abstract Argininosuccinate lyase (ASL) is integral to the urea cycle detoxifying neurotoxic ammonia and the nitric oxide (NO) biosynthesis cycle. Inherited ASL deficiency causes argininosuccinic aciduria (ASA), a rare disease with hyperammonemia and NO deficiency. Patients present with developmental delay, epilepsy and …

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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Roland Posset, Sven F. Garbade, Florian Gleich, Svenja Scharré et autres

PURPOSE: Liver transplantation (LTx) is performed in individuals with urea cycle disorders when medical management (MM) insufficiently prevents the occurrence of hyperammonemic events. However, there is a paucity of systematic analyses on the effects of LTx on health-related outcome parameters compared to …

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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study

Berna Şeker Yılmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion et autres

Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia causing neurological symptoms, which can lead to coma and death. Liver transplantation (LT) is the only curative therapy, but has several …

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Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre

Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grünewald et autres

Abstract In urea cycle disorders (UCDs) ammonia scavenger drugs, usually sodium‐based, have been the mainstay of treatment. Increasingly, glycerol phenylbutyrate (GPB, Ravicti®) is being used but scant real‐world data exist regarding clinical outcomes. A retrospective study of UCD patients initiated on or …

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Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria

Anupam Chakrapani, Jelena Stojanović, Roshni Vara, Francesca De Nictolis et autres

Propionic (PA) and methylmalonic aciduria (MMA) share many clinical similarities, which include the risk of acute metabolic encephalopathies, and some long-term complications, such as optic neuropathy, pancreatic involvement, developmental disability, and similar management approaches, but they also represent distinct clinical and biochemical …

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