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PARIS – A large international registry aims to gather extensive data on the presentation, complications, and treatment response of rare autoinflammatory diseases in both children and adults, according to principal investigator Dr. Marco Gattorno.
Launched in 2009, the Eurofever Project is being conducted in 67 rheumatology centers across 31 countries. So far it has accumulated nearly 3,000 patients, about 70% of whom are children. The registry has thus far generated 10 papers that involved more than 50 centers and many more studies are in the offing, Dr. Gattorno said at the annual European Congress of Rheumatology.
"The Eurofever registry gives an epidemiological overview of the distribution and prevalence of these rare disorders in Europe and other countries," he said in an interview. "The aim was to understand who the patients are and who is following them. The registry is also collecting information on the clinical manifestations and complications associated with different diseases and on the response to treatment from disease onset to enrollment."
An online survey collects information on 15 of these rare diseases. Several present very early in life as sudden-onset, recurrent fever, often accompanied by rash, serositis, lymphadenopathy, or arthritis. Disease flares are usually separated by symptom-free intervals of variable duration, characterized by complete well-being, normal growth, and normalization of acute phase reactants. This cycle can result in a considerable delay in diagnosis, the project has determined –from 5 years for children with FMF [familial Mediterranean fever] to "an incredibly astonishing delay of 18 years" for children with TRAPS [tumor necrosis factor receptor–associated periodic syndrome], CAPS [cryopyrin-associated periodic syndrome], and MKD [mevalonate kinase deficiency], said Dr. Gattorno, a pediatric rheumatologist at the IRCCS Institute Giannina Gaslini in Genoa, Italy.
Fortunately, he noted, a recent paper drawn from Eurofever data has found that these delays are shortening. Although patients born in the 1970s and 1980s typically faced decades of diagnostic confusion, children born in the 1990s and early in this century are being diagnosed much sooner – often within 5 years, he noted.
The creation of new, evidence-based diagnostic and classification criteria is also the direct result of the Eurofever registry. A paper in process is building such systems for MKD, TRAPS, CAPS, and FMF.
Primary investigator Maria Pia Sormani, Ph.D., of the University of Genoa and her colleagues, have created scoring systems for each disorder based on the presence and absence of specific demographic and clinical characteristics. Meeting or exceeding the predetermined cutoff point for each will provide a "gold standard" for diagnosis, Dr. Gattorno said.
As the Eurofever registry continues to grow, it is adding other rare disorders, he said. These include deficiency of interleukin-36 receptor antagonist (DITRA); chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE); Schnitzler syndrome (chronic, nonpruritic urticaria in association with recurrent fever, bone pain, arthralgia or arthritis, and a low-level monoclonal immunoglobulin M gammopathy); and ADA2 deficiency, a rare syndrome of sporadic fevers, skin rashes, and recurring strokes that begins early in childhood.
Eurofever is sponsored by the Executive Agency for Health and Consumers of European Union and other EU grants, as well as unrestricted grants by Novartis and SOBI, from which Dr. Gattorno has received speakers fees. The technical expertise is provided by the Paediatric Rheumatology International Trials Organisation.
The registry is actively enrolling patients. Information on the registry and how to participate can be found at the Eurofever website.
On Twitter @alz_gal
PARIS – A large international registry aims to gather extensive data on the presentation, complications, and treatment response of rare autoinflammatory diseases in both children and adults, according to principal investigator Dr. Marco Gattorno.
Launched in 2009, the Eurofever Project is being conducted in 67 rheumatology centers across 31 countries. So far it has accumulated nearly 3,000 patients, about 70% of whom are children. The registry has thus far generated 10 papers that involved more than 50 centers and many more studies are in the offing, Dr. Gattorno said at the annual European Congress of Rheumatology.
"The Eurofever registry gives an epidemiological overview of the distribution and prevalence of these rare disorders in Europe and other countries," he said in an interview. "The aim was to understand who the patients are and who is following them. The registry is also collecting information on the clinical manifestations and complications associated with different diseases and on the response to treatment from disease onset to enrollment."
An online survey collects information on 15 of these rare diseases. Several present very early in life as sudden-onset, recurrent fever, often accompanied by rash, serositis, lymphadenopathy, or arthritis. Disease flares are usually separated by symptom-free intervals of variable duration, characterized by complete well-being, normal growth, and normalization of acute phase reactants. This cycle can result in a considerable delay in diagnosis, the project has determined –from 5 years for children with FMF [familial Mediterranean fever] to "an incredibly astonishing delay of 18 years" for children with TRAPS [tumor necrosis factor receptor–associated periodic syndrome], CAPS [cryopyrin-associated periodic syndrome], and MKD [mevalonate kinase deficiency], said Dr. Gattorno, a pediatric rheumatologist at the IRCCS Institute Giannina Gaslini in Genoa, Italy.
Fortunately, he noted, a recent paper drawn from Eurofever data has found that these delays are shortening. Although patients born in the 1970s and 1980s typically faced decades of diagnostic confusion, children born in the 1990s and early in this century are being diagnosed much sooner – often within 5 years, he noted.
The creation of new, evidence-based diagnostic and classification criteria is also the direct result of the Eurofever registry. A paper in process is building such systems for MKD, TRAPS, CAPS, and FMF.
Primary investigator Maria Pia Sormani, Ph.D., of the University of Genoa and her colleagues, have created scoring systems for each disorder based on the presence and absence of specific demographic and clinical characteristics. Meeting or exceeding the predetermined cutoff point for each will provide a "gold standard" for diagnosis, Dr. Gattorno said.
As the Eurofever registry continues to grow, it is adding other rare disorders, he said. These include deficiency of interleukin-36 receptor antagonist (DITRA); chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE); Schnitzler syndrome (chronic, nonpruritic urticaria in association with recurrent fever, bone pain, arthralgia or arthritis, and a low-level monoclonal immunoglobulin M gammopathy); and ADA2 deficiency, a rare syndrome of sporadic fevers, skin rashes, and recurring strokes that begins early in childhood.
Eurofever is sponsored by the Executive Agency for Health and Consumers of European Union and other EU grants, as well as unrestricted grants by Novartis and SOBI, from which Dr. Gattorno has received speakers fees. The technical expertise is provided by the Paediatric Rheumatology International Trials Organisation.
The registry is actively enrolling patients. Information on the registry and how to participate can be found at the Eurofever website.
On Twitter @alz_gal
PARIS – A large international registry aims to gather extensive data on the presentation, complications, and treatment response of rare autoinflammatory diseases in both children and adults, according to principal investigator Dr. Marco Gattorno.
Launched in 2009, the Eurofever Project is being conducted in 67 rheumatology centers across 31 countries. So far it has accumulated nearly 3,000 patients, about 70% of whom are children. The registry has thus far generated 10 papers that involved more than 50 centers and many more studies are in the offing, Dr. Gattorno said at the annual European Congress of Rheumatology.
"The Eurofever registry gives an epidemiological overview of the distribution and prevalence of these rare disorders in Europe and other countries," he said in an interview. "The aim was to understand who the patients are and who is following them. The registry is also collecting information on the clinical manifestations and complications associated with different diseases and on the response to treatment from disease onset to enrollment."
An online survey collects information on 15 of these rare diseases. Several present very early in life as sudden-onset, recurrent fever, often accompanied by rash, serositis, lymphadenopathy, or arthritis. Disease flares are usually separated by symptom-free intervals of variable duration, characterized by complete well-being, normal growth, and normalization of acute phase reactants. This cycle can result in a considerable delay in diagnosis, the project has determined –from 5 years for children with FMF [familial Mediterranean fever] to "an incredibly astonishing delay of 18 years" for children with TRAPS [tumor necrosis factor receptor–associated periodic syndrome], CAPS [cryopyrin-associated periodic syndrome], and MKD [mevalonate kinase deficiency], said Dr. Gattorno, a pediatric rheumatologist at the IRCCS Institute Giannina Gaslini in Genoa, Italy.
Fortunately, he noted, a recent paper drawn from Eurofever data has found that these delays are shortening. Although patients born in the 1970s and 1980s typically faced decades of diagnostic confusion, children born in the 1990s and early in this century are being diagnosed much sooner – often within 5 years, he noted.
The creation of new, evidence-based diagnostic and classification criteria is also the direct result of the Eurofever registry. A paper in process is building such systems for MKD, TRAPS, CAPS, and FMF.
Primary investigator Maria Pia Sormani, Ph.D., of the University of Genoa and her colleagues, have created scoring systems for each disorder based on the presence and absence of specific demographic and clinical characteristics. Meeting or exceeding the predetermined cutoff point for each will provide a "gold standard" for diagnosis, Dr. Gattorno said.
As the Eurofever registry continues to grow, it is adding other rare disorders, he said. These include deficiency of interleukin-36 receptor antagonist (DITRA); chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE); Schnitzler syndrome (chronic, nonpruritic urticaria in association with recurrent fever, bone pain, arthralgia or arthritis, and a low-level monoclonal immunoglobulin M gammopathy); and ADA2 deficiency, a rare syndrome of sporadic fevers, skin rashes, and recurring strokes that begins early in childhood.
Eurofever is sponsored by the Executive Agency for Health and Consumers of European Union and other EU grants, as well as unrestricted grants by Novartis and SOBI, from which Dr. Gattorno has received speakers fees. The technical expertise is provided by the Paediatric Rheumatology International Trials Organisation.
The registry is actively enrolling patients. Information on the registry and how to participate can be found at the Eurofever website.
On Twitter @alz_gal
AT THE EULAR CONGRESS 2014