Final Report Summary - GAPAID (Genes And Proteins for AutoImmunity Diagnostics)
GAPAID was a two-year project started on September 1st, 2012, under the “Research for small-medium enterprises” FP7 program, and successfully concluded on August 31st, 2014. The project was aimed at developing new reliable diagnostic tools for rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), two autoimmune diseases that affect ca. 1.537.000 and 1.272.000 patients in Europe, respectively.
RA is one of the most common autoimmune disorders worldwide. Around half of RA patients are unable to hold down a full-time job within 10 years of onset. In RA the objective of therapeutic intervention is to control symptoms, prevent disability and avoid joint damage. The course of RA is highly variable and the commonly used step-up pharmacological strategies imply that a proportion of newly diagnosed RA patients could be inadequately treated for a specific period of time. SLE is a multisystem disease affecting mostly women in childbearing age, and leading to impaired function of several organs, including the kidney. In SLE, the main goal of treatment is to prevent disease relapses and preserve organ function. The diagnosis of SLE must be based on the proper constellation of clinical findings and laboratory evidence. Management depends on disease severity and organ involvement. Periodic follow-up and laboratory testing are imperative to detect signs and symptoms of new organ-system involvement and to monitor the response or adverse reactions to therapies.
RA and SLE are multifactorial diseases caused by environmental stimuli acting on genetically predisposed subjects. The clinical diagnosis of RA and SLE is assisted by the use of in-vitro diagnostic tests aimed at evaluating the presence/level of several antibodies circulating in the patient‟s serum. However, this diagnostic approach is unsatisfactory because it can only assist in the diagnosis after the initial disease onset, is not useful for evaluating disease susceptibility for early prevention, and does not provide any information for monitoring disease progression for the setup of personalized therapeutic treatments.
GAPAID project contributed to the challenging task of improving the diagnosis of these two diseases by:
- identifying and setting up a diagnostic method based both on genetic and on serological markers specifically and significantly associated with the disease;
- developing two novel diagnostic products, one for RA and one for SLE, composed by a serological array, a genetic array and a software exploiting the acquired scientific insights.
The GAPAID prototype of the in-vitro diagnostic tool for the diagnosis of RA contains:
- a semi-quantitative array-based immunoassay for the determination in human serum or plasma of antibodies directed against Citrullinated Peptides and Rheumatoid Factor;
- a genetic array for the genotyping in human serum of five Single Nucleotide Polymorphisms (SNPs) associated with the predisposition to develop the disease;
- a software combining the genetic and the antibody results to predict the probability to develop RA.
The GAPAID prototype of the in-vitro diagnostic tool for the diagnosis and the follow up of SLE contains:
- a semi-quantitative array-based immunoassay for the determination in human serum or plasma of complements and of antibodies directed against dsDNA, ssDNA, nucleosome, histon, Sm, Ribosomal P proteins, SSA, nucleosome, CENP-B, C1q, collagen, and cardiolipin;
- a genetic array for the genotyping in human serum of two SNPs: one SNP is associated with the predisposition to develop the disease and the second SNP correlates with the probability to belong to a more severe subset of disease;
- a software combining the genetic and the antibody results to predict the probability to develop SLE and the probability of belonging to a more severe subset of SLE.
GAPAID Coordinator contact details
Maria Claudia Alcaro, PhD
Toscana Biomarkers S.r.l.
Via Fiorentina, 1
53100 Siena (SI)
tel: 0577 231271
fax: 0577 274107
Email: alcaro@toscanabiomarkers.com
RA is one of the most common autoimmune disorders worldwide. Around half of RA patients are unable to hold down a full-time job within 10 years of onset. In RA the objective of therapeutic intervention is to control symptoms, prevent disability and avoid joint damage. The course of RA is highly variable and the commonly used step-up pharmacological strategies imply that a proportion of newly diagnosed RA patients could be inadequately treated for a specific period of time. SLE is a multisystem disease affecting mostly women in childbearing age, and leading to impaired function of several organs, including the kidney. In SLE, the main goal of treatment is to prevent disease relapses and preserve organ function. The diagnosis of SLE must be based on the proper constellation of clinical findings and laboratory evidence. Management depends on disease severity and organ involvement. Periodic follow-up and laboratory testing are imperative to detect signs and symptoms of new organ-system involvement and to monitor the response or adverse reactions to therapies.
RA and SLE are multifactorial diseases caused by environmental stimuli acting on genetically predisposed subjects. The clinical diagnosis of RA and SLE is assisted by the use of in-vitro diagnostic tests aimed at evaluating the presence/level of several antibodies circulating in the patient‟s serum. However, this diagnostic approach is unsatisfactory because it can only assist in the diagnosis after the initial disease onset, is not useful for evaluating disease susceptibility for early prevention, and does not provide any information for monitoring disease progression for the setup of personalized therapeutic treatments.
GAPAID project contributed to the challenging task of improving the diagnosis of these two diseases by:
- identifying and setting up a diagnostic method based both on genetic and on serological markers specifically and significantly associated with the disease;
- developing two novel diagnostic products, one for RA and one for SLE, composed by a serological array, a genetic array and a software exploiting the acquired scientific insights.
The GAPAID prototype of the in-vitro diagnostic tool for the diagnosis of RA contains:
- a semi-quantitative array-based immunoassay for the determination in human serum or plasma of antibodies directed against Citrullinated Peptides and Rheumatoid Factor;
- a genetic array for the genotyping in human serum of five Single Nucleotide Polymorphisms (SNPs) associated with the predisposition to develop the disease;
- a software combining the genetic and the antibody results to predict the probability to develop RA.
The GAPAID prototype of the in-vitro diagnostic tool for the diagnosis and the follow up of SLE contains:
- a semi-quantitative array-based immunoassay for the determination in human serum or plasma of complements and of antibodies directed against dsDNA, ssDNA, nucleosome, histon, Sm, Ribosomal P proteins, SSA, nucleosome, CENP-B, C1q, collagen, and cardiolipin;
- a genetic array for the genotyping in human serum of two SNPs: one SNP is associated with the predisposition to develop the disease and the second SNP correlates with the probability to belong to a more severe subset of disease;
- a software combining the genetic and the antibody results to predict the probability to develop SLE and the probability of belonging to a more severe subset of SLE.
GAPAID Coordinator contact details
Maria Claudia Alcaro, PhD
Toscana Biomarkers S.r.l.
Via Fiorentina, 1
53100 Siena (SI)
tel: 0577 231271
fax: 0577 274107
Email: alcaro@toscanabiomarkers.com
