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About 195 results

ALLMedicine™ Sandhoff Disease Center

Research & Reviews  71 results

GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)
https://clinicaltrials.gov/ct2/show/NCT05109793

Apr 21st, 2022 - The study is a prospective longitudinal, multicentric decentralized trial which will be performed in children diagnosed with late infantile or juvenile onset of neurological disease of either GM1 or GM2 Gangliosidoses (Tay-Sachs or Sandhoff diseas...

Sandhoff Disease - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/sandhoff/

Apr 14th, 2022 - Sandhoff disease comprises a phenotypic continuum encompassing acute infantile, subacute juvenile, and late-onset disease. Although classification into these phenotypes is somewhat arbitrary, it is helpful in understanding the variation observed i...

Tay-Sachs Disease and Sandhoff Disease
https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/tay-sachs-disease-and-sandhoff-disease

Dec 1st, 2021 - Tay-Sachs disease and Sandhoff disease are types of lysosomal storage disorder Overview of Lysosomal Storage Disorders Lysosomal storage disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes...

Tay-Sachs Disease and Sandhoff Disease
https://www.merckmanuals.com/en-ca/home/children-s-health-issues/hereditary-metabolic-disorders/tay-sachs-disease-and-sandhoff-disease

Dec 1st, 2021 - Tay-Sachs disease and Sandhoff disease are types of lysosomal storage disorder Overview of Lysosomal Storage Disorders Lysosomal storage disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes...

A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor n...
https://doi.org/10.1016/j.braindev.2021.06.007
Brain & Development; Shibuya M, Uneoka S et. al.

Jul 5th, 2021 - The clinical severity of Sandhoff disease is known to vary widely. Furthermore, long-term follow-up report is very limited in the literature. We present a long-term follow-up report of a patient with juvenile-onset Sandhoff disease with a motor ne...

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Clinicaltrials.gov  4 results

GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)
https://clinicaltrials.gov/ct2/show/NCT05109793

Apr 21st, 2022 - The study is a prospective longitudinal, multicentric decentralized trial which will be performed in children diagnosed with late infantile or juvenile onset of neurological disease of either GM1 or GM2 Gangliosidoses (Tay-Sachs or Sandhoff diseas...

N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease)
https://clinicaltrials.gov/ct2/show/NCT03759665

Jun 1st, 2021 - In the Parent Study, Patients will be assessed during three study phases: a baseline period, a 6-week treatment period, and a 6-week post-treatment washout period. If within 6 weeks prior to the initial screening visit, a patient has received any ...

Synergistic Enteral Regimen for Treatment of the Gangliosidoses
https://clinicaltrials.gov/ct2/show/NCT02030015

Apr 14th, 2021 - The infantile and juvenile forms of GM1 and GM2 gangliosidoses are neurodegenerative conditions that are lethal during childhood. There are no known effective therapies available for treatment of infantile and juvenile gangliosidoses. Studies of m...

Registry Gangliosidoses
https://clinicaltrials.gov/ct2/show/NCT04624789

Nov 12th, 2020 - Aim of the Project The aim of the project is to collect fundamental epidemiological and clinical data, such as prevalence and incidence, but also data regarding phenotype, diagnosis and mutation spectrum. To understand the natural course of these ...

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News  3 results

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...

Genetic Diagnosis Before IVF Avoids Prion Disease
https://www.staging.medscape.com/viewarticle/820157

Feb 4th, 2014 - A technique called preimplantation genetic diagnosis (PGD) has allowed a woman carrying the gene for Gerstmann-Sträussler-Sheinker syndrome (GSS), a fatal neurodegenerative disorder linked to abnormal prion protein folding, to selectively implant ...

Genetic Diagnosis Before IVF Avoids Prion Disease
https://www.medscape.com/viewarticle/820157

Feb 4th, 2014 - A technique called preimplantation genetic diagnosis (PGD) has allowed a woman carrying the gene for Gerstmann-Sträussler-Sheinker syndrome (GSS), a fatal neurodegenerative disorder linked to abnormal prion protein folding, to selectively implant ...

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