Clinical laboratory experience of blood CRIM testing in infantile Pompe disease

Bali, Deeksha; Goldstein, Jennifer; Rehder, Catherine; Kazi, Zoheb B.; Berrier, Kathryn L.; Dai, Jinghong; Kishnani, Priya S.

doi:10.1016/j.ymgmr.2015.10.012

Cited by 13 publications

(11 citation statements)

References 28 publications

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“…A blood-based assay for determining CRIM status has been developed recently and has produced reliable results in the majority of cases as confirmed by Western blot from skin fibroblasts and variant assays. 57,59 Results can be obtained quickly, usually within 2 to 3 days. Limitations of the assay, however, are the amount of blood required and the need for specialized tubes for collection of the blood sample and for testing to be done in specialized laboratories with appropriate capabilities.…”

Section: The Importance Of Crim Status In Ertmentioning

confidence: 99%

“…55 In-frame deletion pathogenic variants are predictive of a CRIM-positive status. 58 Although an assay is available to determine CRIM status for patients whose CRIM status cannot be determined on the basis of molecular analysis alone, 57,59 availability of testing is likely to change. It therefore is recommended that NBS laboratories that are performing the screening be considered as a resource to find laboratories that have the capabilities for this assay.…”

Section: The Importance Of Crim Status In Ertmentioning

confidence: 99%

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Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

et al. 2017

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After a Pompe disease diagnosis is confirmed in infants identified through newborn screening (NBS), when and if to start treatment with enzyme replacement therapy (ERT) with alglucosidase alfa must be determined. In classic infantile-onset Pompe disease, ERT should start as soon as possible. Once started, regular, routine follow-up is necessary to monitor for treatment effects, disease progression, and adverse effects. Decision-making for when or if to start ERT in late-onset Pompe disease (LOPD) is more challenging because patients typically have no measurable signs or symptoms or predictable time of symptom onset at NBS. With LOPD, adequate, ongoing follow-up and assessments for onset or progression of signs and symptoms are important to track disease state and monitor and adjust care before and after treatment is started. Because numerous tests are used to monitor patients at variable frequencies, a standardized approach across centers is lacking. Significant variability in patient assessments may result in missed opportunities for early intervention. Management of Pompe disease requires a comprehensive, multidisciplinary approach with timely disease-specific interventions that target the underlying disease process and symptom-specific manifestations. Regardless of how identified, all patients who have signs or symptoms of the disease require coordinated medical care and follow-up tailored to individual needs throughout their lives. The Pompe Disease Newborn Screening Working Group identifies key considerations before starting and during ERT; summarizes what comprises an indication to start ERT; and provides guidance on how to determine appropriate patient management and monitoring and guide the frequency and type of follow-up assessments for all patients identified through NBS.

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Section: The Importance Of Crim Status In Ertmentioning

confidence: 99%

Section: The Importance Of Crim Status In Ertmentioning

confidence: 99%

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

et al. 2017

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“…18) Bali et al found c.2297A>C in homozygosity in three IOPD patients. 19) Because the GAA gene is located on an autosome, the heredity of this gene mutation in this family conforms to Mendel's genetic law, and the hereditary mode conforms to the characteristics of autosomal recessive disorders. In this case, the phenotypic expression occurs when both alleles of the GAA gene harbor a pathogenic mutation.…”

Section: Discussionmentioning

confidence: 82%

The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease

Cui

Wang

et al. 2020

Int. Heart J.

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Pompe disease (PD) is a rare and fatal neuromuscular disease, which is an autosomal recessive disorder. This is the first study to report a case of the compound heterozygous c.1822C>T and c.2297A>C mutations of the GAA gene in mainland Chinese patient, which led to the classic infantile-onset Pompe disease (IOPD) characterized by hypertrophic cardiomyopathy. This case highlights that the detection of GAA activity in peripheral blood by dried blood spot and GAA gene analysis can clarify the diagnosis of IOPD and provides the genetic counseling to those parents whose children have IOPD for giving birth in the future. Although PD is rare, and universal screening has not yet been established, we suggest that clinicians should consider the possibility of Pompe in the presence of hypertrophic cardiomyopathy.(Int Heart J 2020; 61: 178-182)

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“…Значитель-ная доля пациентов несет хотя бы одну не описанную ранее мутацию, что затрудняет предсказание CRIM-статуса пациента [38]. Разработаны методы определе-ния CRIM-статуса с использованием мононуклеаров периферической крови, но их точность ниже, чем при использовании культивируемых фибробластов, из-за чего их применение пока ограничено [41]. В Рос-Лекции и обзоры 1'2016…”

Section: лекции и обзорыunclassified