Early disease progression of Hurler syndrome

Kiely, Bridget; Kohler, Jennifer L.; Coletti, Hannah Y.; Poe, Michele D.; Escolar, Maria L.

doi:10.1186/s13023-017-0583-7

Cited by 58 publications

(77 citation statements)

References 25 publications

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“…The median head circumference for untreated individuals with severe MPS I is well above the CDC reference curves by 3–4 months of age through 3 years of age. Previous studies have shown that individuals with untreated severe MPS I have head circumferences larger than population norms, but less is known about the attenuated phenotype (Aldenhoven et al, ; Kiely, Kohler, Coletti, Poe, & Escolar, ; Tylki‐Szymanska, Rozdzynska, Jurecka, Marucha, & Czartoryska, ). An analysis of 55 individuals with severe MPS I from a single center reported that enlarged head circumference was apparent at a median age of 8 months (Kiely et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies have shown that individuals with untreated severe MPS I have head circumferences larger than population norms, but less is known about the attenuated phenotype (Aldenhoven et al, ; Kiely, Kohler, Coletti, Poe, & Escolar, ; Tylki‐Szymanska, Rozdzynska, Jurecka, Marucha, & Czartoryska, ). An analysis of 55 individuals with severe MPS I from a single center reported that enlarged head circumference was apparent at a median age of 8 months (Kiely et al, ). Thus, higher‐than‐normal OFC can serve as a clue to the diagnosis of MPS I, similar to males with MPS II (Parini, Jones, Harmatz, Giugliani, & Mendelsohn, ).…”

Section: Discussionmentioning

confidence: 99%

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Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry

Viskochil

Clarke

Bay

et al. 2019

American J of Med Genetics Pt A

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Mucopolysaccharidosis Type I (MPS I), caused by deficiency of α‐L‐iduronidase results in progressive, multisystemic disease with a broad phenotypic spectrum including patients with severe (Hurler syndrome) to attenuated (Hurler–Scheie and Scheie syndromes) disease. Disordered growth is common with either phenotype. The study objectives were to construct sex‐ and age‐specific estimated length/height and head circumference growth curves for untreated individuals with severe and attenuated disease and compare them with clinical reference standards. Untreated individuals in the MPS I Registry with at least one observation for length/height and/or head circumference and assigned phenotype as of May 2017 were included. Median growth for 463 untreated individuals with severe disease deviated from reference growth curves by ~6 months of age and fell below the third percentile by 4 years of age. Median head circumference was above reference curves from 3 to 4 months through 3 years of age. Among 207 individuals with untreated attenuated disease, median height fell below the third percentile by 9 years of age with divergence from reference curves by 2 years of age. MPS I‐specific growth curves will be useful in evaluation of long‐term outcomes of therapeutics interventions and will provide a foundation for understanding the pathogenesis of skeletal disease in MPS I.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry

Viskochil

Clarke

Bay

et al. 2019

American J of Med Genetics Pt A

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“…Hearing loss, conductive, sensorineural and mixed, is very frequent in MPSs, has early onset and is progressive [48,86,[147][148][149]. No data on the impact of ERT on hearing function is available in the clinical trials nor in the open label extension studies [17][18][19]22,[36][37][38].…”

Section: Hearingmentioning

confidence: 99%

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Parini

Deodato

2020

IJMS

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The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses (MPSs) I, II, IVA, VI and VII, gained in phase III clinical trials and in observational post-approval studies. Post-marketing data are sometimes conflicting or controversial, possibly depending on disease severity, differently involved organs, age at starting treatment, and development of anti-drug antibodies (ADAs). There is general agreement that ERT is effective in reducing urinary glycosaminoglycans and liver and spleen volume, while heart and joints outcomes are variable in different studies. Effectiveness on cardiac valves, trachea and bronchi, hearing and eyes is definitely poor, probably due to limited penetration in the specific tissues. ERT does not cross the blood–brain barrier, with the consequence that the central nervous system is not cured by intravenously injected ERT. All patients develop ADAs but their role in ERT tolerance and effectiveness has not been well defined yet. Lack of reliable biomarkers contributes to the uncertainties about effectiveness. The data obtained from affected siblings strongly indicates the need of neonatal screening for treatable MPSs. Currently, other treatments are under evaluation and will surely help improve the prognosis of MPS patients.

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“…Early diagnosis of MPS I allows an approach of intravenous enzyme replacement therapy (Iduronidase sold as Aldurazyme (Genzyme)), which provides stabilization of the clinical symptomatology [132]. Another therapeutic approach is hematopoietic stem cell transplantation.…”

Section: Mps I (Hurler Syndrome)mentioning

confidence: 99%

Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease

Breiden

Sandhoff

2020

IJMS

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Gangliosidoses are caused by monogenic defects of a specific hydrolase or an ancillary sphingolipid activator protein essential for a specific step in the catabolism of gangliosides. Such defects in lysosomal function cause a primary accumulation of multiple undegradable gangliosides and glycosphingolipids. In reality, however, predominantly small gangliosides also accumulate in many lysosomal diseases as secondary storage material without any known defect in their catabolic pathway. In recent reconstitution experiments, we identified primary storage materials like sphingomyelin, cholesterol, lysosphingolipids, and chondroitin sulfate as strong inhibitors of sphingolipid activator proteins (like GM2 activator protein, saposin A and B), essential for the catabolism of many gangliosides and glycosphingolipids, as well as inhibitors of specific catabolic steps in lysosomal ganglioside catabolism and cholesterol turnover. In particular, they trigger a secondary accumulation of ganglioside GM2, glucosylceramide and cholesterol in Niemann-Pick disease type A and B, and of GM2 and glucosylceramide in Niemann-Pick disease type C. Chondroitin sulfate effectively inhibits GM2 catabolism in mucopolysaccharidoses like Hurler, Hunter, Sanfilippo, and Sly syndrome and causes a secondary neuronal ganglioside GM2 accumulation, triggering neurodegeneration. Secondary ganglioside and lipid accumulation is furthermore known in many more lysosomal storage diseases, so far without known molecular basis.

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Early disease progression of Hurler syndrome

Cited by 58 publications

References 25 publications

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease

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