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About 93 results

ALLMedicine™ Alpha-mannosidosis Center

Research & Reviews  31 results

Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.
https://doi.org/10.1097/MCD.0000000000000361
Clinical Dysmorphology; Sandal S, Razdan TB et. al.

Dec 9th, 2020 - Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.|2020|Sandal S,Razdan TB,Verma J,Dubey S,Ghosh A,|

The SPARKLE registry: protocol for an international prospective cohort study in patient...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525940
Orphanet Journal of Rare Diseases; Hennermann JB, Guffon N et. al.

Oct 1st, 2020 - Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during ...

Global CNS correction in a large brain model of human alpha-mannosidosis by intravascul...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363495
Brain : a Journal of Neurology; Yoon SY, Hunter JE et. al.

Jul 17th, 2020 - Intravascular injection of certain adeno-associated virus vector serotypes can cross the blood-brain barrier to deliver a gene into the CNS. However, gene distribution has been much more limited within the brains of large animals compared to roden...

European Alpha-Mannosidosis Participant
https://clinicaltrials.gov/ct2/show/NCT03651245

Apr 15th, 2020 - Alpha-Mannosidosis is a lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to Mucopolysaccharidoses.It is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individ...

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Clinicaltrials.gov  6 results

European Alpha-Mannosidosis Participant
https://clinicaltrials.gov/ct2/show/NCT03651245

Apr 15th, 2020 - Alpha-Mannosidosis is a lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to Mucopolysaccharidoses.It is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individ...

Biomarker for Mannosidosis Disease (BioMannosidosis)
https://clinicaltrials.gov/ct2/show/NCT03264040

Apr 3rd, 2020 - Alpha-Mannosidosis is a rare lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to Mucopolysaccharidoses. Alpha-Mannosidosis was first described by Dr Oekerman, from Lund in Sweden in 1967. There is another va...

Safety Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis
https://clinicaltrials.gov/ct2/show/NCT01268358

Mar 29th, 2017 - This is a single-center, open-label, dose escalation study of patients with alpha-mannosidosis. 10 patients will be enrolled in this study receiving intravenous infusions of Lamazym. In order to avoid development of delayed hypersensitivity all pa...

A Placebo-Controlled Phase 3 Trial of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis
https://clinicaltrials.gov/ct2/show/NCT01681953

Mar 29th, 2017 - The overall objective of this trial is to evaluate the efficacy and safety of repeated Lamazym i.v. treatment, compared with placebo, in subjects 5-35 years of age with alpha-Mannosidosis

The Natural History of Alpha-Mannosidosis
https://clinicaltrials.gov/ct2/show/NCT00498420

Sep 2nd, 2016 - Definition: Human alpha-mannosidosis is a rare genetic disorder, caused by the lack of lysosomal alpha-mannosidase, resulting in mental retardation, skeletal changes, hearing loss and recurrent infections. The lack of alpha-mannosidase causes a di...

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