july, 2007

SCIENTIFIC SUBCOMMITTEE MINUTES
Factor VIII and IX

Friday, 6 July 2007, Geneva
Chairman: A. Srivastava (India)

The Chair opened the meeting at 15:45 and welcomed the audience of about 200 attendants. He confirmed that there were no modifications in the agenda and mentioned that all topics of interest could not be included this year due to lack of time.

Completed/Submitted reports and recommendations
In the last year, SSC activities resulted in the following publication in the Journal of Thrombosis and Haemostasis:

· Calibration of the WHO 1st International Standard for blood coagulation factor V in plasma, human (03/116). A.R. Hubbard, L.J. Weller, S. Johnes on behalf of the SSC subcommittee on FVIII and FIX of the ISTH. 2007; 5:1318-19.

SSC Working group on Rare Bleeding Disorders
Chair – F. Peyvandi Co-Chair – C. Negrier

Since its inception in 2004 within the FVIII/IX subcommittee, this SSC working group on "Rare Bleeding Disorders" (RBDs) has attempted to improve our understanding of prevalence, diagnosis and treatments of these diseases by developing the Rare Bleeding Disorders database (www.rbdd.org). Some international data is also available from an annual survey conducted by the World Federation of Hemophilia (WFH) (www.wfh.org). Various national registries have also begun collecting epidemiological data on these conditions (Swiss, North American, United Kingdom, French, Egyptian and other EMBRO countries, Iranian and Indian).

RBD in North America – M. Soucie / A. Shapiro
Dr. Soucie provided information about rare bleeding disorders in the U.S. This data is collected using a public health surveillance system called the Universal Data Collection (UDC) system. The UDC has a national, IRB-approved protocol and collects standardized clinical data and a blood specimen that is centrally tested for transfusion transmitted viruses. Patients in any of 135 federally funded comprehensive care centers with a factor deficiency (<50% of normal) or VWD are included, with informed consent. Data collected include demographic, clinical and treatment information, and a self-assessed quality of life tool. Since May, 1998, over 20,000 patients have been enrolled. The distribution of disorders among enrolled patients is 59% hemophilia A, 16% hemophilia B, 22% VWD, and 3% other factor deficiencies. Dr. Shapiro the described the efforts that are also underway to establish a Rare Coagulation Disorders Resource Room, a project of the Medical and Scientific Advisory Council (MASAC) of the National Hemophilia Foundation (NHF). This web-based Resource Room will be devoted to a variety of rare blood disorders, each having a separate manuscript covering clinical, laboratory and genetic aspects authored by an expert.

RBD in South America – E. D’Amico
Dr. D’Amico presented the South American data. Comprising of 12 countries (total population ~390,000,000) ranging from 458,000 to 191,790,900 inhabitants / country, there is very little published data on RBDs from these countries. Dr. D’Amico had conducted a survey among some of the leading centers in these countries and was able to get data from Brazil, Columbia, Panama, Peru (regional) and Venezuela (national). The reported numbers show wide variability in prevalence of these conditions as documented so far. In all this data, shows the presence of 59 fibrinogen, 62 prothrombin, 41 FV, 132 FVII, 78 FX, 164 FXI, 20 FXIII and 25 combined FV/VIII deficiency patients. The most frequent RBDs are FVII and FXI deficiency. There is limited access to laboratory diagnosis of these conditions. A wide range of products ranging from fresh frozen plasma to factor concentrates are used for treatment, though access is variable depending on the country.

RBD - The WFH survey 2006 – P. Bolton-Maggs
Dr. Bolton-Maggs mentioned that the World Federation of Hemophilia (WFH) had been collecting epidemiological data on hemophilia and other bleeding disorders since 1998 from its national member organizations, which now are over 100 and represent >85% of the world’s population. 56 out of the 101 countries that provide data have some form registry. From 2004, countries have been asked to provide information about the rare bleeding disorders in addition to hemophilia and von Willebrand disease. The number of patients with RBDs reported increases every year and currently runs at more than 17,000. Till 2005, the following numbers of patients with RBD had been reported: fibrinogen-599; prothrombin–167; FV-769; FV/VIII-188; FVII-1689; FX-597; FXI-2446; FXIII-435; platelet disorders-2648. There are many unclassified patients as well. The quality of the data is variable since health care standards vary and the registries may be managed by medical or lay people. This data is accessible on www.wfh.org.

SSC Working Group on inherited RBD- Proposed plan of Action: F. Peyvandi
Dr. Peyvandi described the efforts of above mentioned registries and surveys providing data on RBDs (www.wfh.org/2/7/7_0_Link7_GlobalSurvey2005.htm and www.rbdd.org). The former has information on 6,934 RBD patients in 98 participating countries and the latter has data on 3,017 RBD patients in 64 participating countries. The prevalence of RBDs are similar in the two data sets. However, in both these, only very basic information is available on each patient. About 50% of this data refers to patients in Europe. As a consequence, a network of 10 European treatment centres has been formed to develop a new and homogeneous communication tool for reporting, managing, editing and viewing information on RBD patients (www.rbdd.eu). To help focus on the development of the science around each RBD, it has been decided to establish small expert groups to prepare a roadmap for the development of the science of that condition.