- In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency. (wikipedia.org)
- A defective alpha-mannosidase enzyme, which normally helps to break down complex sugars derived from glycoproteins in the lysosome, causes progressive lysosomal accumulation of mannose-rich oligosaccharides in all tissues, resulting in impaired cellular function and apoptosis (Figure 2). (wikipedia.org)
- Velmanase alfa is the first enzyme replacement therapy recommended by NICE for alpha-mannosidosis and is given to patients once-a-week by intravenous infusion. (ddw-online.com)
- The vanishingly rare, progressive and debilitating disease is caused by a deficiency in the enzyme alpha-mannosidase, leading to a build-up of complex sugars that damage the central nervous system and organs of the body. (nxtpsychedelics.com)
- Over time, that effort crystallised around rare diseases, and in 2018 the company added pegunigalsidase alfa, an investigational enzyme replacement therapy for Fabry disease developed by Israel's Protalix BioTherapeutics that is due to be filed for approval before the end of this year. (nxtpsychedelics.com)
- Four poster presentations at the SSIEM symposium feature analyses of the safety and efficacy of pegunigalsidase alfa, the company's PEGylated enzyme replacement therapy (ERT), in the treatment of Fabry disease. (chiesirarediseases.com)
- Angela Messina, Ph.D., Consiglio Nazionale delle Ricerche (CNR), Italy, is presenting a poster, titled, "IgG glycosylation in patients with alpha-mannosidosis and the impact of enzyme replacement therapy. (chiesirarediseases.com)
- Recombinant enzyme therapy is a safe and effective way to treat rare diseases, like alpha-mannosidosis, and can improve the quality of life in patients. (clinicallab.com)
- FDA has approved Lamzede (velmanase alfa) , the first enzyme replacement therapy approved in the US, for treating the noncentral nervous system manifestations of alpha-mannosidosis-a rare genetic condition characterized by the lack of the alpha-mannosidase enzyme in the body. (clinicallab.com)
- Lamzede acts the same way as the alpha-mannosidase enzyme in the human body, thus, restoring normal cellular activity in patients. (clinicallab.com)
- Alpha-mannosidosis is caused by genetic changes in the MAN2B1 gene, which codes for the lysosomal alpha-mannosidase enzyme. (clinicallab.com)
- Mutations of the MAN2B1 gene result in the lack of production of the alpha-D-mannosidase enzyme or the production of a defective, inactive form of the enzyme. (clinicallab.com)
- Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. (wikipedia.org)
- In other Fabry disease posters, Dr. Bernat presents a post hoc analysis that found COVID-19 mRNA vaccines do not appear to increase the risk of IRRs or anti-drug antibodies in patients treated with pegunigalsidase alfa, and Ozlem Goker-Alpan, M.D., Lysosomal and Rare Disorders Research and Treatment Center, USA, describes the tolerability and safety of pegunigalsidase alfa in seven patients treated in an Expanded Access Program. (chiesirarediseases.com)
- Alpha-mannosidosis is a rare genetic lysosomal storage disorder, affecting about one in every 500,000 people worldwide. (clinicallab.com)
- Patients with alpha-mannosidosis are typically diagnosed in childhood and experience a wide range of symptoms, including infections, hearing loss and poor eyesight, muscle weakness, skeletal and joint problems, and cognitive abnormalities. (nxtpsychedelics.com)
- This pooled analysis showed that pegunigalsidase alfa had an overall favorable safety profile with most (95.6%) TEAEs being of mild or moderate severity. (chiesirarediseases.com)
- David Warnock, M.D., The University of Alabama at Birmingham, USA, is presenting a poster, titled, "Pooled analysis of the effect of pegunigalsidase alfa on renal function: Data from 113 patients in the pegunigalsidase alfa clinical trial program," that includes data from patients with more than 18 months of treatment across multiple trials. (chiesirarediseases.com)
- The results of this pooled analysis suggest that long-term pegunigalsidase alfa treatment provides continued renal function benefits in patients with Fabry disease. (chiesirarediseases.com)
- Alpha-mannosidosis is an extremely rare, genetic condition, thought to affect around 25 people in England. (ddw-online.com)
- Meanwhile an initial assessment report has been published for velmanase alfa, a treatment for a rare genetic condition called alpha-mannosidosis which is caused by a faulty gene. (careappointments.com)
- Alpha-mannosidosis is a lifelong multi-systemic progressive disease, with neuromuscular and skeletal deterioration over decades. (wikipedia.org)
- Alpha-mannosidosis is a progressive disorder, and its presence should be suspected in patients with cognitive disabilities, skeletal changes (e.g., swollen joints, curved spine), hearing loss and recurrent infections. (wikipedia.org)
- Chiesi's Lamzede (velmanase alfa) will now be funded on the NHS in England and Wales as an option for treating the non-neurological signs and symptoms of mild to moderate alpha-mannosidosis following a recommendation by the National Institute for Health and Care Excellence (NICE). (ddw-online.com)
- Velmanase alfa is already available to patients with the disease in Europe, where it was approved as Lamzede in 2018, but for now the only treatment available in the US are symptomatic and supportive such as antibiotics, hearing aids, physiotherapy and orthopaedic devices or surgery. (nxtpsychedelics.com)
- Generally, phenotypes of alpha-mannosidosis patients are not clearly distinguishable, which makes a prediction of the clinical course for an individual patient challenging. (wikipedia.org)
- Patients may present to doctors, nurses or health visitors at different stages of progression, and with different ad hoc symptoms, making the link to suspect a diagnosis of alpha-mannosidosis difficult. (wikipedia.org)
- We are pleased that eligible patients in England and Wales will now be able to access velmanase alfa on the NHS for the first time," said Dr Kamran Iqbal, Head of Medical Affairs, Global Rare Diseases, Chiesi UK&I. (ddw-online.com)
- On behalf of our alpha-mannosidosis community, I am pleased at the news that NICE has made the decision to make velmanase alfa available to suitable patients in our community in England and Wales," said Bob Stevens, Group Chief Executive, MPS Society. (ddw-online.com)
- Mark Stark, treasurer at the International Society for Mannosidosis & Related Disorders (ISMRD) and father of a son living with alpha-mannosidosis, said the prospect of a first treatment for the disease "is bringing patients, parents, families and caregivers hope for a better future. (nxtpsychedelics.com)
- The results of this study suggest that IgG sialylation/galactosylation could offer a potential new pharmacodynamic biomarker for evaluating treatment benefits in patients with alpha-mannosidosis. (chiesirarediseases.com)
- Lamzede's effectiveness was evaluated in adults and pediatric patients with alpha-mannosidosis in a Phase 3 multicenter, randomized, double-blind, placebo-controlled, parallel-group study. (clinicallab.com)
- Velmanase alfa has been assessed through the ultra-orphan pathway for medicines aimed at extremely rare conditions. (careappointments.com)
- He added: "As someone who knows personally how devastating alpha-mannosidosis can be, this is an important milestone toward a potential first treatment option that addresses the root cause of the disease. (nxtpsychedelics.com)
- We report the case of a five-year-old child, affected by alpha-mannosidosis requiring a brain magnetic resonance (MRI) and a lumbar puncture during a planned follow-up for his enzymatic substitutive treatment. (biomedcentral.com)
- In addition, two poster presentations at the SSIEM congress feature analyses of the impact of treatment with velmanase alfa in alpha-mannosidosis. (chiesirarediseases.com)
- Alpha-mannosidosis can impact a patient's quality of life in many ways, including their ability to live independently, socialise or find employment. (wikipedia.org)
- intranasal dexmedetomidine and intravenous ketamine could be a feasible option for MRI and lumbar puncture in children with alpha-mannosidosis needing sedation. (biomedcentral.com)
- Patients may present to doctors, nurses or health visitors at different stages of progression, and with different ad hoc symptoms, making the link to suspect a diagnosis of alpha-mannosidosis difficult. (wikipedia.org)
- A diagnosis of alpha-mannosidosis is suspected based upon identification of characteristic findings of a multi-symptomatic presentation, a thorough clinical evaluation, a detailed patient history, and results from the diagnostic tests described below: A. Oligosaccharides in urine A preliminary investigation may be performed to measure mannose-rich oligosaccharide concentrations in urine. (wikipedia.org)
- The diagnosis of alpha-mannosidosis is established in a proband by identification of deficient acid alpha-mannosidase enzyme activity in peripheral blood leukocytes or other nucleated cells such as fibroblasts. (nih.gov)
- A defective alpha-mannosidase enzyme, which normally helps to break down complex sugars derived from glycoproteins in the lysosome, causes progressive lysosomal accumulation of mannose-rich oligosaccharides in all tissues, resulting in impaired cellular function and apoptosis (Figure 2). (wikipedia.org)
- Velmanase alfa is used to treat certain symptoms associated with alpha-mannosidosis (a genetic condition where the body is unable to break down complex sugars). (medlineplus.gov)
- Alpha-mannosidosis presents with a variety of symptoms including impaired hearing, speech and mobility that progress from childhood into adulthood and is often under-recognized, causing some patients to be left undiagnosed or untreated. (best8-weekfitness.com)
- Velmanase alfa controls symptoms associated with alpha-mannosidosis but does not cure it. (medlineplus.gov)
- Alpha-mannosidosis encompasses a continuum of clinical findings from mild to severe. (nih.gov)
- For injection: 10 mg of velmanase alfa-tycv as a lyophilized powder in a single-dose vial for reconstitution. (nih.gov)
- tell your doctor and pharmacist if you are allergic to velmanase alfa, any other medications, or any of the ingredients in velmanase alfa injection. (medlineplus.gov)
- Velmanase alfa comes as a powder to be mixed with water and administered intravenously (into the vein) by a doctor or a nurse at a healthcare facility. (medlineplus.gov)
- Alpha-mannosidosis should be suspected in individuals with the following clinical, laboratory, and pathology findings. (nih.gov)
- tell your doctor and pharmacist what prescription and nonprescription medications, vitamins, nutritional supplements, and herbal products you are taking or plan to take while taking velmanase alfa. (medlineplus.gov)
- Prenatal testing for a pregnancy at increased risk is possible by assay of acid alpha-mannosidase enzymatic activity or molecular genetic testing once the pathogenic variants have been identified in the family. (nih.gov)
- Sykdomsuttrykket varierer fra en svært alvorlig nyfødtform (2) via moderat alvorlige former med skjelett- og andre organforandringer, redusert utvikling og raskt tap av funksjoner og ferdigheter (de fleste tilfellene), til mild sykdom uten skjelettforandringer, men med lærevansker eller lettere utviklingshemning (10-15 % av tilfellene). (frambu.no)
- Alpha-mannosidosis is a lifelong multi-systemic progressive disease, with neuromuscular and skeletal deterioration over decades. (wikipedia.org)
- Alpha-mannosidosis can impact a patient's quality of life in many ways, including their ability to live independently, socialise or find employment. (wikipedia.org)