Study of Intra-Erythrocyte Dexamethasone Sodium Phosphate on Neurological Symptoms in Patients with Ataxia Telangiectasia (Erydel)
Principal Investigator: Prof. Isabelle Meyts
Ataxia telangiectasia (AT) is a rare hereditary autosomal recessive disorder caused by a mutation in the ATM gene that causes the ATM protein to be reduced or no longer produced. This protein is an enzyme with different functions, but one of the most important functions is repairing DNA damage caused daily by, for example, radiation. As a result, the DNA damage is not repaired and accumulates, causing many cells to die. Lymphocytes and nerve cells in the cerebellum are extra sensitive to this. Common disease manifestations and complaints of patients with AT are immunodeficiency with recurrent infections, tremors, involuntary (eye) movements, muscle weakness, talking and swallowing problems, skin abnormalities, slowed growth, more susceptible to infections, tumors, and mental retardation.
AtteST: A Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate on Neurological Symptoms in Patients with Ataxia Telangiectasia.
OLE: Open-label, Long-term, Extension Treatment using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients with Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study.