Reversal of Clinical Features of Hurler's Disease and Biochemical Improvement After Treatment by Bone-Marrow Transplantation

Hobbs, Jr

doi:10.1016/s0140-6736(81)91046-1

Cited by 449 publications

(217 citation statements)

References 26 publications

(7 reference statements)

Supporting

Mentioning

211

Contrasting

Unclassified

Order By: Relevance

“…There was no specific treatment available for any type of MPS until bone marrow transplantation was first reported in 1981 by Hobbs (Hobbs et al 1981). Since enzyme replacement therapy (ERT) for MPS-I was introduced in 2003, it has been widely recognized that some clinical symptoms progress despite ERT.…”

Section: Discussionmentioning

confidence: 99%

The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I

Yano

Pavlova

2012

JIMD Reports

View full text Add to dashboard Cite

Mucopolysaccharidoses (MPS) are a group of genetic disorders due to deficiency of lysosomal enzymes resulting in impaired glycosaminoglycan metabolism. All types of MPS can present with cardiovascular manifestation, although MPS-I, II, and VI seem to have more severe involvement than the other types. Enzyme replacement therapy (ERT) is available for MPS-I, II, and VI. Cardiovascular changes including hypertrophic cardiomyopathy, thickened valvular lesions, and coronary artery lesions often poorly respond to ERT and are well known as leading causes of death in patients with MPS-I. The mechanisms to cause these changes in MPS-I have not been well characterized. Immunohistopathological studies were conducted on the cardiac specimens from a patient with MPS-I who died due to sudden cardiac failure.

show abstract

Section: Discussionmentioning

confidence: 99%

The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I

Yano

Pavlova

2012

JIMD Reports

View full text Add to dashboard Cite

show abstract

“…Many invasive strategies have been used or proposed for circumventing the blood-brain barrier, including intraparenchymal injections of therapeutic proteins, intraparenchymal gene therapy, chemical or physical agents to open the blood-brain barrier (such as mannitol), and hematopoietic stem cell transplantation [1][2][3][4][5][6][7][8][9]. Treatment via the cerebrospinal fluid has not been successful in the past due to the inability of the proteins to traverse the ependymal layer and diffuse through brain tissue, even though this route would be clinically easier for application to patients.…”

Section: Introductionmentioning

confidence: 99%

Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid

Dickson

McEntee

Vogler

et al. 2007

Molecular Genetics and Metabolism

161

138

View full text Add to dashboard Cite

Treatment of brain disease with recombinant proteins is difficult due to the blood-brain barrier. As an alternative to direct injections into the brain, we studied whether application of high concentrations of therapeutic enzymes via intrathecal (IT) injections could successfully drive uptake across the ependyma to treat brain disease. We studied IT enzyme replacement therapy with recombinant human iduronidase (rhIDU) in canine mucopolysaccharidosis I (MPS I, Hurler syndrome), a lysosomal storage disorder with brain and meningeal involvement. Monthly or quarterly IT treatment regimens with rhIDU achieved supranormal iduronidase enzyme levels in the brain, spinal cord, and spinal meninges. All regimens normalized total brain glycosaminoglycan (GAG) storage and reduced spinal meningeal GAG storage by 58-70%. The improvement in GAG storage levels persisted three months after the final IT dose. The successful use of enzyme therapy via the CSF represents a potentially useful approach for lysosomal storage disorders.

show abstract

“…The original report on the successful use of HCT to treat a child with Hurler syndrome was published 30 y ago (25). Due to the severity of the underlying disease, more than 2,000 patients with severe forms of inherited metabolic diseases have been treated with HCT.…”

Section: Inherited Metabolic Disordersmentioning

confidence: 99%

Emerging uses for pediatric hematopoietic stem cells

2012

View full text Add to dashboard Cite

Reversal of Clinical Features of Hurler's Disease and Biochemical Improvement After Treatment by Bone-Marrow Transplantation

Cited by 449 publications

References 26 publications

The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I

The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I

Intrathecal enzyme replacement therapy: Successful treatment of brain disease via the cerebrospinal fluid

Emerging uses for pediatric hematopoietic stem cells

Contact Info

Product

Resources

About