View clinical trials related to Ataxia Telangiectasia.
Filter by:Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility. Currently there are no curative therapy options. The clinical presentation of the disease has a wide variety is linked to the proven mutation, immunological status and residual ATM kinase activity. Apart from these prognostic markers, hardly any biomarker to predict disease course is available. Aim of the present proposal is to evaluate serum concentrations of neurofilament - light chain in the serum of whole blood as biomarker of neurodegeneration prospectively. In addition to that, the investigators will examine the evolution of neurofilament - light chain longitudinally by blood samples from our biobank as well as the concentration of neurofilament - light chain in cerebrospinal fluid (CSF) of affected A-T patients from our biobank. As in other neurodegenerative disorders and ataxias, the investigators expect that neurofilament- light chain levels are increased in the A-T cohort and correlated to the neurological status of A-T patients evaluated by means of AT-score.
Study design: Parallel group, placebo-controlled, dose-escalation each 2 months for 12 months. Dose based on percent (%) of calculated caloric intake. Thirty participants will be randomised in blocks on a 1:1:1 ratio into one of three groups stratified by age (< 5 years, 5-10 years, > 10 years of age). Group 1: 10%, 20%, 35%, 35%, 35% (no placebo). Group 2: placebo, 10%, 20%, 35%, 35% Group 3: placebo, placebo, 10%, 20%, 35%. Primary endpoint: The percent cell death induced by glucose deprivation in cell culture. Secondary endpoints include: Scales for assessment and rating of ataxia, International Cooperative Ataxia Rating Scale, Ataxia Telangiectasia Neurological Examination Scale Toolkit, speech and language assessment, EyeSeeCam assessment, MRI lung imaging, Lung function, Upper respiratory microbiome, Faecal microbiome, Survival and inflammatory phenotype of airway epithelial cells, macrophages and in serum, Metabolomic biomarker discovery in serum and measurement of neuroflament light chain.
Ataxia telangiectasia (A-T) is a multisystem disease with diverse manifestations, including progressive neurodegeneration, immunodeficiency, respiratory disease, and genomic instability. One of the most important features of A-T is the increased predisposition to cancer, especially to lymphoid malignancies. Patients with A-T are generally excluded from collaborative clinical trials, their treatment outcomes and toxicity profiles have rarely been reported, and little is currently known concerning the treatment intensity required to provide a reasonable balance between efficacy and toxicity. The aims of this study are to build a large international de-identified database of children with A-T treated for leukemia and lymphoma, to investigate epidemiology and outcome of treatment, toxicity profiles and risk factors which impact outcome, in order to eventually enable the generation of data-based treatment recommendations for this population.
This clinical trial investigates the effects of nicotinamide riboside (vitamin B3) on the disease course of patients with ataxia telangiectasia. Patients will be treated during four consecutive months with nicotinamide riboside (25mg/kg/day), followed by a washout period of two months. Main study parameters/endpoints: Ataxia, dysarthria, quality of life, laboratory parameters.
This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Ataxia-Telangiectasia (A-T). There are two phases to this study: the Parent Study, and the Extension Phase. The Parent Study evaluates the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the symptomatic treatment of A-T. The Extension Phase evaluates the long-term safety and efficacy of IB1001 for the neuroprotective, disease-modifying treatment of A-T.
This is an international (North America, Europe, Africa, Asia and Australia), multi-center, prospective, open-label treatment study, designed to continue to provide the study medication to all patients who completed 12 months of treatment (including those treated with placebo) in the IEDAT-02-2015 trial, completed the study assessments, do not present safety contraindication to continuation of treatment, and provided informed consent. The study aims to collect information on the long-term safety and efficacy of the trial treatment.
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability and cancer susceptibility. The immunodeficiency is expressed by recurring infections. It's characterised by decreased lymphocytes data as well as lack of immunglobulin A, immunglobulin G subclasses and specific antibodies against pneumococcus. Aim of the present clinical trial is to investigate frequency-, intensity- and duration of the infections as well as changes oft immune status, dimension of liver disease and tumor risk in patients with A-T, with and without immunoglobulin G substitution therapy. Transient elastography (FibroScan) will be performed in order to measure liver stiffness as an indication of fatty liver and liver fibrosis. A bioelectrical impedance analysis (BIA) is conducted to investigate the exact body composition. Ataxia Score is determined to define neurological problems. Every subject receives a diary to compile symptoms of infection.
Polypoidal choriodal vasculopathy (PCV) is an ophthalmologic disease, characterized by vascular abnormalities of the walls of small choroidal vessels, reproducing the specific aspect of polyps (cluster aspect). PCV is one of the "boundary-forms" of age related macular degeneration. These vasculopathies can be idiopathic. Following the radiotherapy treatments of active and occult-typed neovessels in Age-Related Macular Degeneration (ARMD), 10% of the patients would present typical polypoidal vasculopathic lesions. These polypoidal secondary lesions have been induced by radiotherapy treatment and may show an increased sensibility to radiation in these patients. Such an increase of radiosensibility is noticed in ataxia telangiectasia syndrome, in relation to the ATM gene mutations. The secondary or idiopathic polypoidal vasculopathic lesions are to be brought closer to telangiectasias in Ataxia Telangiectasia. Considering the iatrogenic component of radiotherapy in the secondary forms of ataxia telangiectasia, it seems legitimate to search for predisposing variants to polypoidal vasculopathies in the ATM gene. Considering the frequency of PCV worldwide, it seems important to identify the predisposing genetic factors of the ATM gene. These biomarkers to the pathology might enable us to offer prevention (reinforced protection against radiations, including light) and to develop therapeutics (recruitment of other kinases, ATM's partners, in the stability and cellular control of DNA).
This is an international, multi-center, one-year, randomized, prospective, double-blind, placebo-controlled, phase III study, designed to assess the effect of two non-overlapping dose ranges of EDS EP, administered by IV infusion once per month, on neurological symptoms of patients with Ataxia Telangiectasia.
This study aims to investigate the link between the Ataxia Telangiectasia Mutated (ATM) gene and metformin response. This link has been identified from large studies of the human genome, and this study aims to confirm this link in a clinical study. The ATM gene is involved in DNA repair - if a person inherits a "faulty" copy of this gene from both their parents, they have a genetic condition called Ataxia-telangiectasia (A-T). A-T is associated with, among other things, a resistance to insulin, which causes fatty liver and diabetes. This study will recruit people who have A-T, but have not developed diabetes, and compare this group to "healthy" controls, i.e. people who do not have A-T or diabetes. The study will compare how the groups respond to two drugs used to treat diabetes (metformin and pioglitazone), with the intention that this will guide the management of diabetes in A-T. This is an, open label unblinded study recruiting 15 people with A-T and 15 age and gender matched controls. Each participant will have three study visits to the Clinical Research Centre at Ninewells hospital in Dundee - one at baseline, a second after 8 weeks of metformin and the final visit after eight weeks of pioglitazone. During each visit we will carry out a number of investigations to study the insulin resistance of A-T and how it responds to metformin and pioglitazone.