Bone-Marrow Transplantation in the Maroteaux–Lamy Syndrome (Mucopolysaccharidosis Type VI)

Krivit, William; Ayaz, K. Lund; Tsai, Michael Y.; Ramsay, Norma K.C.; Kersey, John H.; Weisdorf, Sally A.; Sibley, Richard K.; Snover, Dale C.; McGovern, Margaret M.; Schwartz, Marcia; Desnick, Robert J.

doi:10.1056/nejm198412203112504

Cited by 190 publications

(88 citation statements)

References 20 publications

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“…[13][14][15][16][17] Animal studies suggest that BMT has a place in the treatment of MPS VII. Birkenmier et al 9 reported that in adult MPS VII mice, BMT resulted in a significantly increased life span which was similar to that observed for normal mice given the same therapy.…”

Section: Discussionmentioning

confidence: 99%

Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation

Yamada

Kato²,

Sukegawa

et al. 1998

Bone Marrow Transplant

106

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Summary:A 12-year-old girl with Sly disease (mucopolysaccharidosis VII; ␤-glucuronidase deficiency), who is homozygous for the A619V mutation, had a successful allogeneic BMT, donored by an HLA-identical unrelated female to replace the deficient enzyme. Within 5 months after BMT, the enzyme activity of the recipient's lymphocytes increased to normal range. No signs of acute or chronic GVHD were observed. For the successive 31 months post-BMT, ␤-glucuronidase activity in her lymphocytes was maintained at almost normal levels and excretion of glycosaminoglycans in the urine was greatly diminished. Ultrastructural findings demonstrated no abnormal vacuoles and inclusion bodies in the cytoplasm of her rectal mucosal cells. Coincident with the restoration of the enzyme activity, clinical improvement was dramatic. Especially notable were improvements in motor function. The patient was able to walk alone for a long time without aid, and she even became able to ride a bicycle and take a bath. In addition, recurrent infections of the upper respiratory tract and the middle ears decreased in frequency and severity, and dyspnea on exertion, severe snoring and vertigo have substantially improved. Thus, allogeneic BMT in this patient produced a better quality of life and provided a more promising outlook.

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Section: Discussionmentioning

confidence: 99%

Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation

Yamada

Kato²,

Sukegawa

et al. 1998

Bone Marrow Transplant

106

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“…In the past 25 years, nearly a thousand patients with metabolic storage disorders have received allogeneic hematopoietic stem cell transplantation for curative purposes using bone marrow from HLA-matched or mismatched related donors. This results in clinical benefit by replacing the missing enzyme produced by the donor cells circulating in the blood [39][40][41][42][43].…”

Section: Non-oncologymentioning

confidence: 99%

Umbilical cord blood banking: an update

Butler

Menitove²

2011

J Assist Reprod Genet

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Background Umbilical cord blood is a potential vast source of primitive hematopoietic stem and progenitor cells available for clinical application to reconstitute the hematopoietic system and/or restore immunological function in affected individuals requiring treatment. Cord blood can be used as an alternative source for bone marrow transplantation and its use is developing into a new field of treatment for pediatric and adult patients presenting with hematological disorders, immunological defects and specific genetic diseases. Discussion More than 25,000 allogeneic cord blood transplantations have been performed worldwide since the first cord blood transplantation in 1988. There are two banking options for storing umbilical cord blood [private (family) and public]. Cord blood stored in private banks are used for either autologous or allogeneic transplants for the infant donor or related family members but private cord blood banks are not searchable or available to the public. More than 780,000 cord blood units are stored in over 130 private cord blood banks, worldwide, and over 400,000 units in more than 100 quality controlled public cord blood banks.Conclusions Researchers continue to evaluate the usefulness of cord blood cells in treating human diseases or disorders for purposes other than hematological disorders including heart disease, strokes, brain or spinal cord injuries and cancer. This review summarizes the status of umbilical cord blood banking, its history and current and potential use in the treatment of human disease.

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“…The early onset and rapid progression of cardiovascular disease require management of symptoms (6)(7)(8)(9)(10). Therapeutic interventions for children and adults with LSD and later-onset heart problems include bone marrow (BM) transplantation postmyeloablation (11)(12)(13) and surgical replacement of damaged arteries and valves (14)(15)(16), although this treatment is rarely used (17). Both create attendant risks to the patient and neither are currently feasible treatments for infants, many of whom succumb to heart and respiratory problems within the first year of life.…”

mentioning

confidence: 99%

Electrocardiographic and other cardiac anomalies in β-glucuronidase-null mice corrected by nonablative neonatal marrow transplantation

Schuldt

Hampton

Chu

et al. 2004

Proc. Natl. Acad. Sci. U.S.A.

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Cardiovascular manifestations of lysosomal storage disease (LSD) are a significant health problem for affected patients. Infantileonset cardiac disease, because of its rapid progression, is usually treated symptomatically. Therapy in older patients includes valve replacement and bone marrow (BM) transplantation, both of which are life threatening in the already debilitated patients. Enzyme replacement therapy has potential benefit but has not yet been demonstrated to provide long-term relief for cardiac disease. Here, we demonstrate prevention of severe cardiac manifestations in ␤-glucuronidase (GUSB) null mice BM-transplanted i.v. as neonates without myeloablative pretreatment. The mice, a model of mucopolysaccharidosis type VII (MPSVII, Sly syndrome), develop progressive LSD unless provided with GUSB early in life. The BM recipients retained GUSB؉ donor cells in the peripheral blood and heart until necropsy at >11 months of age. The enzyme ␤-hexosamindase increased in tissues of GUSB null MPSVII mice was reduced significantly (P ‫؍‬ 0.001) in treated MPSVII hearts. Electrocardiography demonstrated normalization of heart rate, PR, PQ, and QRS intervals in BM recipients. Storage was markedly reduced in the stroma of heart valves, adventitial cells of the aortic root, perivascular and interstitial cells of the myocardium, and interstitial cells of the conduction tissue. Heart͞body weight ratio normalized. The aortic root was still grossly distended, and the conductive myocytes retained storage, suggesting neither plays a major role in ECG normalization. We conclude that transplantation of MPSVII neonates without toxic intervention can prevent many of the cardiovascular manifestations of LSD.

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Bone-Marrow Transplantation in the Maroteaux–Lamy Syndrome (Mucopolysaccharidosis Type VI)

Cited by 190 publications

References 20 publications

Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation

Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation

Umbilical cord blood banking: an update

Electrocardiographic and other cardiac anomalies in β-glucuronidase-null mice corrected by nonablative neonatal marrow transplantation

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