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About 1,128 results

ALLMedicine™ Lysosomal Storage Disease Center

Research & Reviews  416 results

Genetic Studies of Lysosomal Storage Disorders
https://clinicaltrials.gov/ct2/show/NCT00001215

Jul 1st, 2022 - There is a vast spectrum of clinical manifestations encountered in individuals with lysosomal storage diseases. Lysosomal storage disorders occur when an enzyme necessary for breaking down intracellular fats, proteins, recycled products and organe...

Tralesinidase alfa enzyme replacement therapy prevents disease manifestations in a cani...
https://doi.org/10.1124/jpet.122.001119
The Journal of Pharmacology and Experimental Therapeutics; Ellinwood NM, Valentine BN et. al.

Jun 19th, 2022 - Mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome B; OMIM #252920) is a lethal, pediatric, neuropathic, autosomal recessive, and lysosomal storage disease with no approved therapy. Patients are deficient in the activity of N-acetyl-al...

Cystinosin deficient rats recapitulate the phenotype of nephropathic cystinosis.
https://doi.org/10.1152/ajprenal.00277.2021
American Journal of Physiology. Renal Physiology; Hollywood JA, Kallingappa PK et. al.

Jun 14th, 2022 - The lysosomal storage disease cystinosis is caused by mutations in CTNS, encoding a cystine transporter, and in its severest form leads to proximal tubule dysfunction followed by kidney failure. Patients receive the drug-based therapy cysteamine f...

Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease
https://clinicaltrials.gov/ct2/show/NCT03678324

May 26th, 2022 - Fabry disease (FD) is a lysosomal storage disease caused by a deficiency in an enzyme that degrades components of the outer cell wall. A deficiency of this enzyme in humans has been associated with stroke. In males with FD, 6.9% have a stroke by 3...

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Guidelines  1 results

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic in...
https://doi.org/10.1097/GIM.0b013e318211a7e1
Genetics in Medicine : Official Journal of the American C... Wang RY, Bodamer OA et. al.

Apr 20th, 2011 - To develop educational guidelines for the diagnostic confirmation and management of individuals identified by newborn screening, family-based testing after proband identification, or carrier testing in at-risk populations, and subsequent prenatal ...

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Drugs  1 results see all →

Clinicaltrials.gov  25 results

Genetic Studies of Lysosomal Storage Disorders
https://clinicaltrials.gov/ct2/show/NCT00001215

Jul 1st, 2022 - There is a vast spectrum of clinical manifestations encountered in individuals with lysosomal storage diseases. Lysosomal storage disorders occur when an enzyme necessary for breaking down intracellular fats, proteins, recycled products and organe...

Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease
https://clinicaltrials.gov/ct2/show/NCT03678324

May 26th, 2022 - Fabry disease (FD) is a lysosomal storage disease caused by a deficiency in an enzyme that degrades components of the outer cell wall. A deficiency of this enzyme in humans has been associated with stroke. In males with FD, 6.9% have a stroke by 3...

Effect of Cannabinoids on Pain in Fabry Disease Patients
https://clinicaltrials.gov/ct2/show/NCT04820361

May 18th, 2022 - Fabry disease is an X-linked lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A. Patients suffering from Fabry's disease may suffer from neuropathic pain, since the lysosomal accumulation of lipids can also take place...

CYSTEA-BONE Clinical Study
https://clinicaltrials.gov/ct2/show/NCT03919981

Mar 16th, 2022 - Nephropathic Cystinosis (NC) is an orphan inherited autosomal recessive disease characterised as a generalized lysosomal storage disease due to a deficiency of the cystine lysosomal transport protein, cystinosin. Patients with NC usually receive c...

Hydroxychloroquin (HCQ) in chILD of Genetic Defect
https://clinicaltrials.gov/ct2/show/NCT03822780

Mar 15th, 2022 - Children Interstitial lung disease (chILD) is a heterogeneous group of rare respiratory disorders of known and unknown etiologies that are mostly chronic and associated with high morbidity and mortality. ILD are characterized by inflammatory and f...

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News  8 results

NICE Grants Routine Access to Treatment for a Rare Metabolic Disorder
https://www.medscape.com/viewarticle/970676

Mar 22nd, 2022 - In a draft guidance published yesterday, The National Institute for Health and Care Excellence (NICE) has recommended elosulfase alfa (Vimizin; BioMarin) for routine use within the NHS for the treatment of mucopolysaccharidosis type 4A (MPS 4A), a...

Lysosomal Storage Disorders: Marking Milestones and Moving Forward
https://www.onclive.com/view/lysosomal-storage-disorders-marking-milestones-and-moving-forward

Dec 20th, 2020 - Richard Moscicki, MD The 12th International Congress of Human Genetics attracted approximately 7500 people this year, including scientists, clinicians, and industry representatives, a turnout that organizers said constituted the largest-ever gat...

Cerliponase alfa continues to impress for CLN2 disease
https://www.mdedge.com/neurology/article/207334/pediatrics/cerliponase-alfa-continues-impress-cln2-disease
Bruce Jancin

Aug 30th, 2019 - BANGKOK – Biweekly cerliponase alfa continued to show durable and clinically important therapeutic benefit in children with neuronal ceroid lipofuscinosis type 2 (CLN2) disease at the 3-year mark in an ongoing international study, Marina Trivisano.

An Infant With Poor Visual Response
https://www.medscape.com/viewarticle/827671_2

Jul 9th, 2014 - Case Diagnosis The presence of bilateral cherry-red spots, failure to thrive, developmental delays, and hypotonia suggests a lysosomal storage disease. Genetic evaluation is critical for diagnosis. This patient was found to have abnormalities in h...

FDA's Rare Disease Program: A Rare Opportunity to Help Kids
https://www.medscape.com/viewarticle/821918

Mar 18th, 2014 - Editor's note: The US Food and Drug Administration (FDA) has just approved the first product under the new rare pediatric disease priority review voucher (PRV) program. Elosulfase alfa (Vimizim™) is a new type of enzyme replacement therapy (ERT) t...

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