Tratamiento. No se conoce la cura de esta enfermedad. El control a largo plazo tiene el objetivo de maximizar el funcionamiento y. Aunque aún no hay tratamiento para la mayoría de las ataxias hereditarias progresivas . patía en ataxia de Friedreich, para-paresia espástica en otros. La ataxia de Friedreich es una enfermedad hereditaria. Está causada por mutaciones recesivas que provocan una disminución drástica en los.
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These mutations significantly decrease the production of frataxin, causing mitochondrial dysfunction and impaired energy production.
Ataxia de Friedreich
Considering the intense energy demand and limited regenerative capacity of nerve cells, this dysfunction can have serious effects on nerve cell survival and has been associated with neurodegenerative disorders. Many of the symptoms and disease complications can be treated to help individuals maintain optimal functioning as long as possible, but so far, no treatment has been able to reduce disease progression.
Stem cells have the remarkable potential to develop into many different cell types in the body and to replicate rapidly. Stem cells, particularly those in bone marrow, were shown to migrate and integrate the nervous system, where they may develop into nerve cells. Granulocyte-colony stimulating factor G-CSF stimulates the production of stem cells within the bone marrow and their circulation around the body. G-CSF is commonly used to help chemotherapy recovery in blood cancer patients, and to increase the number of stem cells in the blood of healthy people before bone marrow donation.
G-CSF was shown to increase the number of bone marrow-derived stem cells in the brain of both healthy mice and mice with brain injury. Now, researchers want to find out if the same is true in patients with the condition.
G-CSF will be injected under the skin of patients for five consecutive days, at a similar dose given to healthy people before a bone marrow donation.
Patients will be assessed by a doctor before treatment, at the end of treatment, and two weeks after the end of treatment.
Blood markers will be assessed in blood samples taken over tratamiemto subsequent two weeks to evaluate how patients have responded to treatment. The researchers noted that if the pilot study shows a positive response to G-CSF treatment, a larger and longer clinical trial should be performed.
The current study will also help to define the dosage and suitable patients for a future larger clinical trial. Your email address will not be published.
Ataxia de Friedreich | Aspen Medical Group