and neurodegeneration causing a choreiform movement disorder.Another one of them would be that this disease should be considered in patients who have elevated levels of acanthocytes in a peripheral blood film.The serum creatine kinase is often elevated in the body of the people who are affected by this disease.People afflicted by this disease also experience a loss of neurons. Loss of neurons is a hallmark of neurodegenerative diseases. Due to the generally non-regenerative nature of neuronal cells in the adult central nervous system, this results in an irreversible and fatal process of neurodegeneration. There is also the presence of several movement related disorders including chorea, dystonia and bradykinesia, one of the more incapacitating ones includes Truncal spasms. Cause
Choreo-acanthocytosis is caused by a mutation in both copies of the gene VPS13A, which codes for vacuolar protein sorting-associated protein 13A. Diagnosis
Protein function tests that demonstrate a reduce in chorein levels and also genetic analysis can confirm the diagnosis given to a patient. For a disease like this it is often necessary to sample the blood of the patient on multiple occasions with a specific request given to the haematologist to examine the film for acanthocytes. Another point is that the diagnosis of the disease can be confirmed by the absence of chorein in the western blot of the erythrocyte membranes. Treatment
The treatment to battle the disease chorea-acanthocytosis is completely symptomatic.
Tebentafusp, sold under the brand name Kimmtrak, is an anti-cancer medication used to treat uveal melanoma (eye cancer).The most common side effects include cytokine release syndrome, rash, pyrexia (fever), pruritus (itching), fatigue, nausea, chills, abdominal pain, edema, hypotension, dry skin, headache, and vomiting.Tebentafusp is a bispecific gp100 peptide-HLA-directed CD3 T cell engager. It was approved for medical use in the United States in January 2022. Medical uses
Tebentafusp is indicated for HLA-A*02:01-positive adults with unresectable or metastatic uveal melanoma. History
Efficacy was evaluated in IMCgp100-202 (NCT03070392), a randomized, open-label, multicenter trial of 378 participants with metastatic uveal melanoma. Participants were required to be HLA-A*02:01 genotype positive identified by a central assay. Participants were excluded if prior systemic therapy or localized liver-directed therapy were administered. Prior surgical resection of oligometastatic disease was permitted. Participants with clinically significant cardiac disease or symptomatic, untreated brain metastases were excluded.The U.S. Food and Drug Administration (FDA) granted Immunocores application for tebentafusp priority review, breakthrough therapy, and orphan drug designations. Society and culture
Legal status
On 24 February 2022, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) adopted a positive opinion, recommending the granting of a marketing authorization for the medicinal product Kimmtrak, intended for the treatment of uveal melanoma. The applicant for this medicinal product is Immunocore Ireland Limited. Tebentafusp was approved for medical use in the European Union in April 2022. References
External links
"Tebentafusp". Drug Information Portal. U.S. National Library of Medicine.