Initiation of Enzyme Replacement Therapy for an Adult Patient with Asymptomatic Type 1 Gaucher's Disease.

Tanaka, Naoki; Saitô, Hiroshi; Ito, Toshiro; Momose, Kayoko; Ishida, Fumihiro; Hora, Kazuhiko; Kiyosawa, Kendo; Ida, Hiroyuki

doi:10.2169/internalmedicine.40.716

Cited by 3 publications

(2 citation statements)

References 21 publications

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“…The concept of enzyme-replacement therapy has already gained clinical significance in different lysosomal-storage diseases, such as Fabry disease (MIM 301500), mucopolysaccharidosis type II (MIM 309900), and Gaucher disease (MIM 230800). [27][28][29] Uptake of enzymes involved in lysosomal-storage disease is driven by endocytosis. The fate of endocytotic vesicles by the formation of endosomes and lysosomes is well established.…”

Section: Discussionmentioning

confidence: 99%

Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts

Aufenvenne

Larcher

Haußer

et al. 2013

The American Journal of Human Genetics

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Transglutaminase-1 (TG1)-deficient autosomal-recessive congenital ichthyosis (ARCI) is a rare and severe genetic skin disease caused by mutations in TGM1. It is characterized by collodion babies at birth, dramatically increased transepidermal water loss (TEWL), and lifelong pronounced scaling. The disease has a tremendous burden, including the problem of stigmatization. Currently, no therapy targeting the molecular cause is available, and the therapeutic situation is deplorable. In this study, we developed the basis for a causative therapy aiming at the delivery of the enzyme to the inner site of the keratinocytes' plasma membrane. We prepared sterically stabilized liposomes with encapsulated recombinant human TG1 (rhTG1) and equipped with a highly cationic lipopeptide vector to mediate cellular uptake. The liposomes overcame the problems of insufficient cutaneous delivery and membrane penetration and provided excellent availability and activity of rhTG1 in primary keratinocytes. To demonstrate the general feasibility of this therapeutic approach in a humanized context, we used a skin-humanized mouse model. Treatment with rhTG1 liposomes resulted in considerable improvement of the ichthyosis phenotype and in normalization of the regenerated ARCI skin: in situ monitoring showed a restoration of TG1 activity, and cholesterol clefts vanished ultrastructurally. Measurement of TEWL revealed a restoration of epidermal barrier function. We regard this aspect as a major advance over available nonspecific approaches making use of, for example, retinoid creams. We conclude that this topical approach is a promising strategy for restoring epidermal integrity and barrier function and provides a causal cure for individuals with TG1 deficiency.

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Section: Discussionmentioning

confidence: 99%

Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts

Aufenvenne

Larcher

Haußer

et al. 2013

The American Journal of Human Genetics

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“…Enzyme replacement therapy (ERT) can be an effective method for treating various types of ARCI, since the pathological manifestation of diseases is due to the partial or complete absence of a protein that is necessary for normal keratinization of the epidermis. ERT has been used with relative efficacy to treat patients with various lysosomal storage diseases (LSD) such as Fabry disease (OMIM #301500), type II mucopolysaccharidosis (OMIM #309900) and Gaucher disease (OMIM #230800), Tay-Sachs disease (OMIM #272800), metachromatic leukodystrophy (OMIM #607574) [ 91 , 92 , 93 , 94 , 95 ].…”

Section: Conventional Therapymentioning

confidence: 99%

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis

Chulpanova

Shaimardanova

Ponomarev

et al. 2022

IJMS

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Mutations in genes such as transglutaminase-1 (TGM1), which are responsible for the formation and normal functioning of a lipid barrier, lead to the development of autosomal recessive congenital ichthyosis (ARCI). ARCIs are characterized by varying degrees of hyperkeratosis and the presence of scales on the body surface since birth. The quality of life of patients is often significantly affected, and in order to alleviate the manifestations of the disease, symptomatic therapy with moisturizers, keratolytics, retinoids and other cosmetic substances is often used to improve the condition of the patients’ skin. Graft transplantation is commonly used to correct defects of the eye. However, these approaches offer symptomatic treatment that does not restore the lost protein function or provide a long-term skin barrier. Gene and cell therapies are evolving as promising therapy for ARCIs that can correct the functional activity of altered proteins. However, these approaches are still at an early stage of development. This review discusses current studies of gene and cell therapy approaches for various types of ichthyosis and their further prospects for patient treatment.

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Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk

Sekijima

Ohashi

Ohira

et al. 2010

Clinical Therapeutics

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Enzyme replacement therapy (ERT) with imiglucerase is a well-established, effective treatment for Gaucher disease. However, there have been no reports regarding the excretion of imiglucerase into human breast milk and its effects on the nursing infant.Here, we report a Gaucher disease patient who had successful pregnancies and lactation under ERT, and describe the distribution and excretion of imiglucerase in human milk. Following the peak of serum β-glucocerebrosidase activity, slightly increased enzymatic activity (0.0.16 nmol/h/mL) was observed in the first breast milk after imiglucerase infusion. Our data indicate that a small amount of imiglucerase is excreted into human breast milk.3

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Initiation of Enzyme Replacement Therapy for an Adult Patient with Asymptomatic Type 1 Gaucher's Disease.

Cited by 3 publications

References 21 publications

Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts

Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis

Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk

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