Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I

Dickson, Patricia I.; Hanson, Stephen R.; McEntee, Michael F.; Vite, Charles H.; Vogler, Carole; Mlikotic, Anton; Chen, Agnes H.; Ponder, Katherine P.; Haskins, Mark E.; Tippin, Brigette L.; Le, Steven Q.; Passage, Merry; Guerra, Catalina; Dierenfeld, Ashley; Jens, Jackie K.; Snella, Elizabeth M.; Kan, Shinichi; Ellinwood, N. Matthew

doi:10.1016/j.ymgme.2010.06.020

Cited by 47 publications

(48 citation statements)

References 23 publications

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“…All therapeutic studies were preapproved by the Institutional Animal Care and Use Committee and adhere to the ARVO Statement for the Use of Animals in Ophthalmic and Vision Research; further details concerning these animals have been reported elsewhere. [17][18][19][20][21][22] …”

Section: Animal Informationmentioning

confidence: 99%

Ocular Lesions in Canine Mucopolysaccharidosis I and Response to Enzyme Replacement Therapy

Newkirk¹,

Atkins²,

Dickson

et al. 2011

Invest. Ophthalmol. Vis. Sci.

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Section: Animal Informationmentioning

confidence: 99%

Ocular Lesions in Canine Mucopolysaccharidosis I and Response to Enzyme Replacement Therapy

Newkirk¹,

Atkins²,

Dickson

et al. 2011

Invest. Ophthalmol. Vis. Sci.

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“…Enzyme replacement therapy (ERT) has also been able to stabilize the visceral manifestations of both MPSIH and MPSII, but its lack of ability to cross the blood-brain barrier (BBB) has prevented successful treatment of the neurologic aspects of these diseases through intravenous infusions of enzyme (4,6 ). Recently, the delivery of these enzymes through an intra-thecal route has been explored as a means of improving neurological outcomes (7)(8)(9)(10)(11)(12)(13).…”

mentioning

confidence: 99%

Analysis of Glycosaminoglycans in Cerebrospinal Fluid from Patients with Mucopolysaccharidoses by Isotope-Dilution Ultra-Performance Liquid Chromatography–Tandem Mass Spectrometry

et al. 2011

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BACKGROUND New therapies for the treatment of mucopolysaccharidoses that target the brain, including intrathecal enzyme replacement, are being explored. Quantitative analysis of the glycosaminoglycans (GAGs) that accumulate in these disorders is required to assess the disease burden and monitor the effect of therapy in affected patients. Because current methods lack the required limit of quantification and specificity to analyze GAGs in small volumes of cerebrospinal fluid (CSF), we developed a method based on ultra-performance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS). METHODS Samples of CSF (25 μL) were evaporated to dryness and subjected to methanolysis. The GAGs were degraded to uronic acid-N-acetylhexosamine dimers and mixed with internal standards derived from deuteriomethanolysis of GAG standards. Specific dimers derived from heparan, dermatan and chondroitin sulfates (HS, DS and CS) were separated by UPLC and analyzed by electrospray ionization MS/MS using selected reaction monitoring for each targeted GAG product and its corresponding internal standard. RESULTS CSF from control pediatric subjects (n = 22) contained <0.38 mg/L HS, 0.26 mg/L DS, and 2.8 mg/L CS, whereas CSF from patients with Hurler syndrome (n = 7) contained concentrations of DS and HS that were at least 6-fold greater than the upper control limits. These concentrations were reduced by 17.5% to 82.5% after allogeneic transplantation and treatment with intrathecal and intravenous enzyme replacement therapy. CONCLUSIONS The method described here has potential value in monitoring patients with mucopolysaccharidoses receiving treatment targeted to the brain.

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“…Reports of trials with IT ERT in MPS I and VI animals as well as MPS I patients have also been described [17,18,19,20,21]. The use of the drug in the canine model of MPS I with CNS manifestations resulted in achieving very high enzyme levels and a noticeable reduction of GAG storage in the spinal meninges after 4 weekly doses [17].…”

Section: Discussionmentioning

confidence: 99%

“…The use of the drug in the canine model of MPS I with CNS manifestations resulted in achieving very high enzyme levels and a noticeable reduction of GAG storage in the spinal meninges after 4 weekly doses [17]. Other animal studies showed that IT ERT can diffuse widely throughout the CNS and treat disease there effectively [19,20,21], and reduction in stored material, improved histopathology, longer lifespan and neurobehavioral improvement has been also observed [20,22]. IT drug administration is an established route for treatment of disorders such as chronic pain (due to cancer or other conditions) and spasticity.…”

Section: Discussionmentioning

confidence: 99%

Spinal Cord Compression in Maroteaux-Lamy Syndrome: Case Report and Review of the Literature with Effects of Enzyme Replacement Therapy

Jurecka

Opoka-Winiarska²,

Jurkiewicz³

et al. 2012

Pediatr Neurosurg

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The purpose of this report is to review the literature regarding spinal cord compression in mucopolysaccharidosis type VI (MPS VI), to discuss the possible impact of enzyme replacement therapy (ERT) and to stress the necessity of timely surgical intervention. A 9.5-year-old female patient with severe MPS VI had been receiving ERT since the age of 7. After 2.5 years of treatment, she developed craniovertebral canal stenosis with spinal cord compression and cervical myelopathy. Conclusions: (1) baseline cervical spine evaluation and regular neurological assessment should be performed in all MPS VI patients, (2) detailed neurological observation should be conducted in patients treated with ERT, especially in the period of improvement in the osteoarticular system, as ERT fails to prevent cervical myelopathy and (3) surgical decompression is required and in order to achieve a satisfying outcome it might be crucial to perform surgery at an early age.

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Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I

Abstract: Enzyme replacement therapy (ERT) with intravenous recombinant human alpha-

Cited by 47 publications

References 23 publications

Ocular Lesions in Canine Mucopolysaccharidosis I and Response to Enzyme Replacement Therapy

Ocular Lesions in Canine Mucopolysaccharidosis I and Response to Enzyme Replacement Therapy

Analysis of Glycosaminoglycans in Cerebrospinal Fluid from Patients with Mucopolysaccharidoses by Isotope-Dilution Ultra-Performance Liquid Chromatography–Tandem Mass Spectrometry

Spinal Cord Compression in Maroteaux-Lamy Syndrome: Case Report and Review of the Literature with Effects of Enzyme Replacement Therapy

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