Ignite Creation Date:
2024-05-06 @ 3:41 AM
Last Modification Date:
2024-10-26 @ 11:37 AM
Study NCT ID:
NCT02345135
Status:
COMPLETED
Last Update Posted:
2017-11-30
First Post:
2015-01-19
Brief Title:
Susceptibility to Infections in Ataxia Telangiectasia
Sponsor:
Johann Wolfgang Goethe University Hospital
Organization:
Johann Wolfgang Goethe University Hospital
Study Overview
Official Title:
Susceptibility to Infections in Patients With Ataxia Telangiectasia A Prospective Follow-up Study
Status:
COMPLETED
Status Verified Date:
2017-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Death in Ataxia telangiectasia A-T is usually due to cancer or chronic lung failure around 20 years of age Despite low lymphocyte counts CD3 CD4 CD8 and CD19 IgA and IgG subclass deficiency opportunistic and acute severe respiratory infections are rare The prevailing wisdom is that an immunoglobulin replacement therapy is not necessary in most of the patients However no placebo controlled trials have been performed so far The aim of this trial was to investigate the prevalence of mild and severe respiratory infections and or chronic cough in classical A-T patients compared to healthy controls
Detailed Description:
Ataxia telangiectasia is an autosomal recessive multisystem disorder which is characterized by a progressive ataxia conjunctival telangiectasia a humoral and cellular immunodeficiency an increased radiosensitivity and an increased risk for cancer Boder E Pediatrics 1957 Most patients die in their 2nd or 3rd decade of life due to a respiratory failure caused by progressive interstitial lung disease or due to malignancies Schroeder SA Pediatr Pulmonol 2010 In 1995 the sequence of the mutated AT gene ATM on chromosome 11q22-23 was identified Main problems besides the progressive neurodegeneration are recurrent infections of upper and lower respiratory tract and a growth retardation and malnutrition These problems are caused by a mutation in the ATM gene on chromosome 11 which encodes for a protein with several key functions in control of cell cycle and apoptosis Savitsky K et al Hum Mol Gen 1995 Several works already showed that patients with AT have a variable immunodeficiency which is characterized by low lymphocyte counts a lack of Immunoglobulin A IgA Immunoglobulin G subclasses IgG2 and 4 and specific pneumococcal antibodies Schubert R Clin Exp Immunol 2002 The course of disease is dependent on the AT mutation respectively the residual kinase activity of ATM which is found in about 10 of A-T patients These patients are described as variant ATs and have a better prognosis regarding immunodeficiency susceptibility to infections and a possible growth retardation and malnutrition Verhagen M Hum Mutat 2012 Despite the evidence for a humoral immunodeficiency a treatment with polyvalent immunoglobulins IgG is not practiced in generally In the Clinical Workshop on Ataxia Teleangiectasia that took place in Frankfurt in January 2011 the investigators found out that the percentage of A-T patient that are supplemented with immunoglobulins was only 10 to 60 depending on the different clinical centresThe Goethe University Childrens Hospital in Frankfurt the biggest A-T centre in Germany takes care for more than 40 A-T patients At the moment about 15 of these patients are treated with immunoglobulins Some observations show that the progress of the chronic lung disease cannot be prevented the usage of immunoglobulins By now its not clear in what way patients suffer from an increased susceptibility to infections and if a substitution with immunoglobulins is needed The aim of this trial is to investigate the incidence intensity and duration of infections in patients with A-T compared to age matched healthy controls
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None