Full application for an addition of a test categories in the EDL Survey response 1 Response ID 71 Date submitted 1980-01-01 00:00:00 Last page 1 Start language en 1. Name of test category Name of the test category addressed in the original submission: Serum and urine protein electrophoresis 2. Pre-submission information Please indicate your pre-submission response ID: [Pre-submission ID] 131 3. Applicant’s information (primary contact person): Contact person, name and information of the person submitting the application: [LAST NAME, First name] SOLIS, Leire Contact person, name and information of the person submitting the application: [Email address (...@....)] [email protected] Contact person, name and information of the person submitting the application: [Phone number (+country code) phone number no spaces] +351214075720 Contact person, name and information of the person submitting the application: [Other information] - 4. Applicant’s information (secondary contact person): [LAST NAME, First name] PREVOT, Johan [Email address (...@....)] [email protected] page 1 / 10 [Phone number (+country code) phone number no spaces] +351214075720 [Other information] - 5. Details of the organization making the submission (if applicable) Name of the organization making the submission (if applicable): [Name of the organisation] International Patient Organisation for Primary Immunodeficiencies (IPOPI) Name of the organization making the submission (if applicable): [Address] Rocky Bottom, Trerieve, Downderry, Cornwall PL11 3LY, UK Name of the organization making the submission (if applicable): [Department] Name of the organization making the submission (if applicable): [Website] www.ipopi.org Name of the organization making the submission (if applicable): [Phone number] +351214075720 6. Details of the organizations supporting the application: Please provide up to three organizations supporting your application including a. Organization name, b. Contact person, c. Email address: a. International Union of Immunological Societies (IUIS) b. Prof Stuart Tangye c. [email protected] 7. Public health impact of the disease/condition: page 2 / 10 Please detail the public health relevance of conditions addressed with the proposed test and add references: Myeloma: According to the International Myeloma Foundation, multiple myeloma is a cancer of the bone marrow plasma cells. It is synonymous with "myeloma" and "plasma cell myeloma." Plasma cells make antibodies against infectious agents such as viruses and bacteria. A cancerous or malignant plasma cell is called a myeloma cell. Myeloma is called “multiple” because there are frequently multiple patches or areas in bone marrow where it grows. It is important that multiple myeloma be diagnosed as early as possible to reduce the number of potential complications with more advanced myeloma. Myeloma can be slow-moving or more aggressive. 159,985 new cases are diagnosed yearly, worldwide. It is twice more likely to occur in people of African descent. Incidence of MM is highly variable among countries but has increased uniformly since 1990, with the largest increase in middle and low-middle SDI countries. Literature: Ramsenthaler C et al. The impact of disease-related symptoms and palliative care concerns on health-related quality of life in multiple myeloma: a multi-centre study. BMC Cancer. 2016; 16: 427. doi: 10.1186/s12885-016-2410-2 Cook R. Economic and clinical impact of multiple myeloma to managed care. J Manag Care Pharm. 2008 Sep;14(7 Suppl):19-25. Pineli M et al. Multiple Myeloma: Epidemiology and Burden of Disease Analysis in Latin America. Value in Health Volume 20, Issue 9, Page A872. DOI: https://doi.org/10.1016/j.jval.2017.08.2558 Cowan A, Allen C, Barac A et al. Global Burden of Multiple Myeloma. A Systematic Analysis for the Global Burden of Disease Study 2016. JAMA Oncol. 2018;4(9):1221-1227. doi:10.1001/jamaoncol.2018.2128 Cowan A, Ballen C, Barac A, et al. Global Burden of Multiple Myeloma. A Systematic Analysis for the Global Burden of Disease Study 2016. JAMA Oncol. 2018;4(9):1221-1227. doi:10.1001/jamaoncol.2018.2128 Primary immunodeficiencies: Primary immunodeficiencies (PIDs) are a large and growing group of over 350 different inherited disorders caused when some components of the immune system (mainly cells and proteins) do not work properly. Recent studies have shown that PIDs may be more common than previously estimated and that as many as 1% of the population may be affected with a PID when all types and varieties are considered. Because their immune systems do not work properly, people with PIDs are more prone than other people to repeated, severe and even fatal infections. When PIDs are left underdiagnosed or are misdiagnosed, the immune system remains defective, often leading to illness, disability, permanent organ damage or even death. Without treatment with Polyvalent Human Immunoglobulins, the morbidity and mortality rates of patients affected by PIDs are significantly higher and life expectancy is reduced from 50 years to 12 years. Clinical data have clearly demonstrated that appropriate treatment with Polyvalent Human Immunoglobulins of patients affected by these conditions can be lifesaving as well as greatly improve their quality of life. The evidence led to the inclusion of Polyvalent Human Immunoglobulins in the WHO Essential Medicines List in 2006 and WHO Model List of Essential Medicines for Children in 2007. Some PIDs do not require Ig replacement therapy but can be cured by allogeneic stem cell transplantation (or even gene therapy in a few limited instances as of today). In the case of PIDs, “although diverse, [they] share the common feature of susceptibility to infection and result in substantial morbidity and shortened life spans. Most importantly, prompt diagnosis and treatment can now lead to life-saving treatments (including antibiotics, replacement with stem cells and immunoglobulins) and result in marked improvements in the quality and length of life for persons with most primary immune diseases” (Centers for Disease Control and Prevention, Morbidity and Mortality Weekly Reports. Applying Public Health Strategies to Primary Immunodeficiency Diseases, January 16, 2004 / 53(RR01);1-29). “Early recognition of primary immunodeficiency is essential to reduce morbidity and mortality, and yet failure to recognize these conditions is still a major problem for clinicians around the world” (Sewell, W. A. C, et al., Early indicators of immunodeficiency in adults and children: protocols for screening for primary immunological defects, 2006 Clinical and Experimental Immunology 145:201–203). One major problem is that many general practitioners, physicians and paediatricians not only lack familiarity with immunodeficiencies and but lack guidance on diagnostic tests. This is particularly applicable in developing countries. The use of the WHO List of Essential Medicines and formulary has helped in tackling this problem and helping raise the awareness of these treatable conditions. There are many types of PIDs, depending on which part of the immune system is affected. Antibody failure is the most common form but more severe forms, due to several immune defects in one individual, are easy to diagnose with the correct tools and fatal within 2 years of birth without diagnosis and replacement of stem cells. The largest clinical data collection comes from the UK Medical Research Council study, 1955 –1966. The study’s main aims were to collect information on the natural history of PIDs and to capture nearly all the cases occurring in the UK; 184 untreated patients were admitted to the study (ascertainment has risen > x100 since that time). Ten-year survival rates were 36%. This has been followed by a study of treated patients followed by Cunningham-Rundles and Bodian, diagnosed by the Immunodeficiency Clinic at the Mount Sinai Medical Centre from 1973 to 1998. This comprised 248 patients. Ten-year survival rates had risen to 78% but stilled lagged behind US general figures of 98% with more awareness and higher doses of replacement immunoglobulins, this has now improved further to 92%. Recent data from Iran has confirmed the hugely increased serious infection burden in those patients without immunoglobulin treatment compared with those receiving Polyvalent Human Immunoglobulins (Aghamohammadi A. et al. Efficacy of IVIg on the prevalence of pneumonia in patients with agammaglobulinaemia. 2004 FEMS Immunology & Med. Microbiology 40: 113-118). Social and economic impact Diagnostic delays are not only damaging to the patient with a deterioration of his/her condition and difficult for the family caring for their relative, they also have a negative impact on healthcare systems due to inappropriate use of health resources caused by avoidable visits/hospital admissions involving a variety of different specialists for recurring infections. A recent study showed that “early diagnosis resulted in lower costs postdiagnosis as compared to the year prior to diagnosis, even if regular immunoglobulin replacement therapy was required. The annual savings to the health care system for each diagnosed page 3 / 10 patient is $85,882. Even for patients that are diagnosed and treated with immunoglobulin, this amount remains at $55,882 saved annually”. (Modell V et all. Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes. Immunologic Research (2018) 66:367–380).