- Email: [email protected]
Proposal of a tool for the asessement of quality of Gaucher disease clinical management
Abstracts / Molecular Genetics and Metabolism 120 (2016) S17–S145
almost always produced by non-enzymatic processes. One such compound, cholestane-3β,5α,6β-triol, has been shown to be elevated in patients with Niemann-Pick C (NPC), cerebrotendinous xanthomatosis and LALD, and is a useful diagnostic marker in NPC. We describe its use as a biomarker in infantile onset LALD. Plasma samples were obtained at diagnosis and at frequent intervals during treatment with enzyme replacement therapy (ERT) (sebelipase alfa, Alexion) in seven infants with LALD. In total over 100 samples were analysed for plasma cholestane-3β,5α,6β-triol concentrations by LC-MS/MS. Plasma oxysterols were elevated at diagnosis in all patients. In one patient who was diagnosed at two weeks of age due to family history in a sibling, the diagnostic level was 52.6ng/ml. The other six infants presented with classical signs and symptoms of LALD with oxysterol concentrations that were massively elevated (158.1 - 514.6 ng/ml, mean 347.8 ng/ml; reference range 9.6-37.0ng/ml based on 70 healthy controls) at diagnosis. Oxysterol concentrations decreased following commencement of ERT and normalised within 12 months in all but one patient. In two patients, oxysterol concentrations increased following initial normalisation and this corresponded with changes in clinical condition such as increasing hepatomegaly or worsening gastrointestinal symptoms. Changes in plasma oxysterols seem to correspond with changes in treatment regimen that were made on the basis of other clinical parameters. Plasma oxysterols may therefore be a useful biomarker in infantile onset LALD with relevance for clinical management.
doi:10.1016/j.ymgme.2016.11.113
105 Haematopoietic stem cell transplantation alongside enzyme replacement therapy in infantile onset lysosomal acid lipase deficiency (LALD, Wolman disease) Arunabha Ghosha, Su Han Lumb, Simon Jonesa, Robert F. Wynnb, Manchester Academic Health Science Centre, Manchester, United Kingdom, b Royal Manchester Children's Hospital, Manchester, United Kingdom a
Infantile onset LALD is a rapidly progressive fatal disease without treatment. The reported outcome of haematopoietic stem cell transplantation (HSCT) in affected children is unfavourable. We report postHSCT outcome in two infants who also received enzyme replacement therapy (ERT) (sebelipase alfa, Alexion). Three infants underwent HSCT for LALD in Manchester. Case 1 was diagnosed at 7 months (prior to ERT development) and was relatively well with normal liver function. She died of progressive disease/VOD at day +4 following conditioning with treosulfan, cyclophosphamide and ATG for a matched unrelated cord blood transplant. Cases 2 and 3 commenced ERT following diagnosis which continued throughout and after transplant. Case 2 presented with coagulopathy, respiratory failure and haemophagocytic lymphohistiocytosis (HLH) at 4 months. Due to ongoing HLH she had a matched family donor transplant at 7 months, following conditioning with treosulfan, fludarabine and alemtuzumab. Transplant course was complicated by mild VOD and microangiopathy. Despite full engraftment she had ongoing active HLH, persistent organomegaly and respiratory failure and died from sepsis and multi-organ failure at 13 months. Case 3 was diagnosed at 2 months and responded to ERT but has developed antibodies. HSCT was performed due to poor venous access and repeated dose escalations at 25 months using a carrier matched sibling donor following conditioning with fludarabine, treosulfan, thiotepa and alemtuzumab. ERT continued post-HSCT and organomegaly and liver transaminases improved. However, transplant was complicated by secondary reconstitution (latest chimerism 40%). This is the first report of HSCT in LALD infants in whom ERT improved
S53
clinical status prior to HSCT. The poor outcome of Case 1 without ERT is similar to previous reports. HSCT was feasible in the others but outcomes differed, likely reflecting the difference in pre-morbid status. Understanding the extent to which HSCT modifies underlying disease requires longer term follow up and further experience. doi:10.1016/j.ymgme.2016.11.114
106 Home enzymatic therapy administration for Gaucher disease in Spain: first national experience Vicente Giner-Galvaña, Carmen Mora-Valb, Javier Perpiñán-Hernándezc, Irene Vazquezd, Xavier Solaniche, Carmen Sanzof, Armando Luañag, Jesus M. Lopez-Duplah, Esperanza Fernandezi, Horacio Canoj, aInternal Medicine Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, b Haematology Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, c Internal Medicine Department. Hospital Mare de Déu dels Lliris, Alzira, Spain, dHospital Can Misses, Ibiza, Spain, eHospital Bellvitge, Barcelona, Spain, fHospital Central Universitario de Asturias, Oviedo, Spain, gHospital Arnau de Vilanova, Lleida, Spain, hHospital Joan XXIII, Tarragona, Spain, i Hospitral de Plasencia, Plasencia, Spain, jHospital Los Arcos del Mar Menor, San Javier. Murcia, Spain Objective: To describe the experience of the first home therapy national program (HTp) in Spain for the administration of enzymatic treatment for patients with Gaucher disease (GD). Methods: Descriptive study of the initial HTp in Spain until September 2016 (near 2 years of experience). Results: 11 patients in 9 hospitals have been included in the HTp for GD. They are from 6 regions, mostly in the east part of the country: 4 in Comunitat Valenciana, 3 in Catalunya, and 1 each in Murcia, Illes Balears and Asturias. Patients are mainly controlled by hematologists (63%), with the remaining 36% controlled by general internists. Except for the hospital of Alcoi (310 beds) and Alzira (301 beds), with 2 patients each, the rest of the participant centers has 1 patient included in the program. The size of the participating hospitals determined by the number of beds is very heterogeneous, with a median (range) 331 (177-1.324) beds/hospital. There was not a relationship between the size of the hospital and the number of included patients. 81.8% of the hospitals also have patients with Fabry disease included in the HTp, mainly those in the Comunitat Valenciana. There was not any secondary effect related to the infusions and none of the initially included patients left the program. Conclusions: The initial experience in the HTp in Spain for the treatment of GD is demonstrating that is a good option since any infusion-related secondary effect has been communicated, and all the patients has been stable in their illness. The convenience of implementation of the program is illustrated by the permanence of all the initial patients and their personal opinions. It is also noteworthy the high heterogeneity in the regional participation as well as the type of hospitals participating. doi:10.1016/j.ymgme.2016.11.115
107 Proposal of a tool for the asessement of quality of Gaucher disease clinical management Vicente Giner-Galvaña, Maria A. Fernandezb, Jesus Villarrubiac, Jorge J. Fernandezd, Ramiro Nuñeze, Carlos A. Arenasf, aInternal Medicine Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, bHospital
S54
Abstracts / Molecular Genetics and Metabolism 120 (2016) S17–S145
Virgen del Puerto, Plasencia, Spain, cHospital Universitario Ramón y Cajal, Madrid, Spain, dHospital do Meixoeiro, Vigo, Spain, eHospital Universitario Virgen del Rocio, Sevilla, Spain, fSociedad Española de Directivos de Salud(SEDISA), Madrid, Spain Objective: To describe a proposal for a tool to assess the quality of the medical care received by patients with Gaucher disease (GD). Methods: The process has comprised: identification and validation of indicators, selection and revision of the indicators, national Delphi consensus, and final written document. All the phases were supervised by a group of 7 national experts on GD (Central Expert committee, CEc)with the support of a methodological group. For the Delphi phase 31 Spanish national experts were contacted. Results: For phase 1 an electronical search using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) methodology was made to include all GD-related publications until October 2013. 5.110 publications were identified. There were not any publication about quality of care in GD. 121 of the publications were selected for a full reading. a further analysis, 73 initial recommendations were obtained about “what is necessary to be done for a correct management of GD patients” based on the 96 publications finally included. The recommendations were organized covering three clinical aspects: diagnosis, treatment and follow-up. After discussion among the CEc, a 55 indicators version was sent twice to 31 external experts with an evaluation of each proposed indicator using a Liker scale. For the final version 19 indicators were included: 10 for diagnosis, 7 for treatment, and 2 for follow-up. For each indicator a chart was elaborated including definition, some clinical comments, how to calculate the indicator, level to be achieved, and bibliography. Conclusions: Although the process of quality is essential to improve health care, there is not any specific document proposing quality indicators for GD. Probably, a specific document for each Health system is necessary. Nowadays the proposed tool is been tested in Spain to assess its usefulness. doi:10.1016/j.ymgme.2016.11.116
108 Home enzymatic therapy administration program for lysosomal diseases in Spain: first national experience Vicente Giner-Galvaña, Joan Torrasb, Javier Perpiñanc, Vicens Torregrosad, Maria Luisa Martine, Angeles Moraa, Roser Torraf, Horacio Canog, Esperanza Fernandezh, Jesus M. Lopez Duplai, Armando Luañae, Carmen Sanzoj, Xavier Solanichk, Irene Vazquezl, a Hospital Mare de Déu dels Lliris, Alcoy, Spain, bHospital Bellvitge, Barcelona, Spain, cHospital de la Ribera, Alzira.Valencia, Spain, dHospital Clinic, Alcoy, Spain, eHospital Arnau de Vilanova, Lleida, Spain, fFundacio Puigvert, Barcelona, Spain, gHospital Los Arcos del Mar menor, San Javier.Murcia, Spain, hHospital de Merida, merida, Spain, iHospital Juan XXIII, Tarragona, Spain, jHospital Central Unicersitario Central Asturias, Oviedo, Spain, kHospital Bellvitge, Varcelona, Spain, lHospital Can Misses, Ibiza, Spain Objective: To describe the experience of the first home therapy national program (HTp) in Spain for the administration of enzymatic treatment for patients with Gaucher (GD) and Fabry disease (FD). Methods: Descriptive study of the initial HTp in Spain until September 2016 (near 2 years of experience). Results: 30 patients (11 with GD, and 19 with FD) from 11 different hospitals in 6 regions are participating (September 2016) in the HTp, with a higher number of centers from the east part of Spain (Illes Balears, Comunitat Valenciana and Catalunya; 26 patients), mainly from Catalunya (6 hospitals) and Comunitat Valenciana (2 hospitals).
Participating hospitals are very heterogeneous taking into account their size, with (median [interval]) 331 [124-1,324] beds/hospital. The bigger hospitals were the Hospital General de Asturias (1,324 beds), and those in Catalunya (more or near 500 beds in 3 of 5 hospitals). By medical specialty, 31.2 % of the 16 participating physicians are general internists, with the same percentage for hematologists, and 25 % nephrologists. Six centers have 1-2 patients included in the program, with Hospital de Bellvitge (619 beds) having 7 and Hospital de Alcoi (310 beds) with 6, as those with the highest number of patients. There was not any secondary effect related to the infusions and none of the initially included patients left the program. Conclusions: The initial experience in the HTp in Spain for the treatment of lysosomal diseases has an initial positive result as demonstrated by the fact that there has not been any secondary documented effect or worsening in the control of the patients. It is noteworthy; however the scarce number of patients and centers to be included in the program, with a very high heterogeneity in the actual active program. doi:10.1016/j.ymgme.2016.11.117
109 Qualitative evaluation of home therapy administration of enzymatic treatment for patients with Gaucher and Fabry disease in the Comunitat Valenciana in Spain: point of view of patients and health care professionals Vicente Giner-Galvaña, Olga Carrascosa-Piquerb, Carmen Mora-Valc, Javier Perpiñán-Hernándezd, Mercedes Almela-Tejedoe, Silvia CornejoUixedaf, Gema Sarrió-Montesc, Agustín Sánchez-Alcarazg, David Vicente-Navarroa, Francisco Javier Sanz-Garcíaa, aInternal Medicine Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, bHaematology Department. Hospital de La Ribera, Alcoy, Spain, cHaematology Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, dInternal Medicine Department. Hospital de La Ribera., Alzira, Spain, eHospitalary Pharmacy Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, fHarmatology Department. Hospital de La Ribera., Alzira, Spain, gHaematology Department. Hospital de La Ribera., Alzira, Spain Objective: To know how patients and health care professionals in the hospital and in the Home Therapy (HT) program rate this program after the change from in-hospital (Hp) velaglucerase-α and agalsidase-α infusion. Methods: In July 2015-April 2016 4 subjects with type 1 Gaucher disease (GD) and 6 with Fabry disease (FD) in the hospitals of Alzira and Alcoy (Comunidad Valenciana, Spain) have received enzymatic treatment at home by a specifically trained team independent of the hospital. One year after the beginning a qualitative survey was answered by patients, hospital pharmacists, hospital and HT nurses. A 0 to 10 scale (0 as the worst opinion. 10 as the best opinion) was applied to express the personal opinion about global evaluation as well as for comfort, security, confidence, and flexibility. Results: 135 infusions were made (88 agalsidase-α and 47 velaglucerase-α). The majority of the opinions were very positive, especially from the patients, with the lowest rates from professionals, with a high heterogeneity among the second collective. 80% of the patients rated as 10 and 20% as 9 the global service. For all the nursery in the HT the global opinion was rated with an 8, with hospital pharmacists showing a similar rating for the two hospitals (9 and 10), although with a huge difference when considering hospital nursery (7 and 10). For all the collectives the worst result was for “Security”, with the lowest punctuation being 7. From a global point of view the lowest punctuation for all the items was emitted by the hospital nursery, with a very high heterogeneity (4 vs. 10).
almost always produced by non-enzymatic processes. One such compound, cholestane-3β,5α,6β-triol, has been shown to be elevated in patients with Niemann-Pick C (NPC), cerebrotendinous xanthomatosis and LALD, and is a useful diagnostic marker in NPC. We describe its use as a biomarker in infantile onset LALD. Plasma samples were obtained at diagnosis and at frequent intervals during treatment with enzyme replacement therapy (ERT) (sebelipase alfa, Alexion) in seven infants with LALD. In total over 100 samples were analysed for plasma cholestane-3β,5α,6β-triol concentrations by LC-MS/MS. Plasma oxysterols were elevated at diagnosis in all patients. In one patient who was diagnosed at two weeks of age due to family history in a sibling, the diagnostic level was 52.6ng/ml. The other six infants presented with classical signs and symptoms of LALD with oxysterol concentrations that were massively elevated (158.1 - 514.6 ng/ml, mean 347.8 ng/ml; reference range 9.6-37.0ng/ml based on 70 healthy controls) at diagnosis. Oxysterol concentrations decreased following commencement of ERT and normalised within 12 months in all but one patient. In two patients, oxysterol concentrations increased following initial normalisation and this corresponded with changes in clinical condition such as increasing hepatomegaly or worsening gastrointestinal symptoms. Changes in plasma oxysterols seem to correspond with changes in treatment regimen that were made on the basis of other clinical parameters. Plasma oxysterols may therefore be a useful biomarker in infantile onset LALD with relevance for clinical management.
doi:10.1016/j.ymgme.2016.11.113
105 Haematopoietic stem cell transplantation alongside enzyme replacement therapy in infantile onset lysosomal acid lipase deficiency (LALD, Wolman disease) Arunabha Ghosha, Su Han Lumb, Simon Jonesa, Robert F. Wynnb, Manchester Academic Health Science Centre, Manchester, United Kingdom, b Royal Manchester Children's Hospital, Manchester, United Kingdom a
Infantile onset LALD is a rapidly progressive fatal disease without treatment. The reported outcome of haematopoietic stem cell transplantation (HSCT) in affected children is unfavourable. We report postHSCT outcome in two infants who also received enzyme replacement therapy (ERT) (sebelipase alfa, Alexion). Three infants underwent HSCT for LALD in Manchester. Case 1 was diagnosed at 7 months (prior to ERT development) and was relatively well with normal liver function. She died of progressive disease/VOD at day +4 following conditioning with treosulfan, cyclophosphamide and ATG for a matched unrelated cord blood transplant. Cases 2 and 3 commenced ERT following diagnosis which continued throughout and after transplant. Case 2 presented with coagulopathy, respiratory failure and haemophagocytic lymphohistiocytosis (HLH) at 4 months. Due to ongoing HLH she had a matched family donor transplant at 7 months, following conditioning with treosulfan, fludarabine and alemtuzumab. Transplant course was complicated by mild VOD and microangiopathy. Despite full engraftment she had ongoing active HLH, persistent organomegaly and respiratory failure and died from sepsis and multi-organ failure at 13 months. Case 3 was diagnosed at 2 months and responded to ERT but has developed antibodies. HSCT was performed due to poor venous access and repeated dose escalations at 25 months using a carrier matched sibling donor following conditioning with fludarabine, treosulfan, thiotepa and alemtuzumab. ERT continued post-HSCT and organomegaly and liver transaminases improved. However, transplant was complicated by secondary reconstitution (latest chimerism 40%). This is the first report of HSCT in LALD infants in whom ERT improved
S53
clinical status prior to HSCT. The poor outcome of Case 1 without ERT is similar to previous reports. HSCT was feasible in the others but outcomes differed, likely reflecting the difference in pre-morbid status. Understanding the extent to which HSCT modifies underlying disease requires longer term follow up and further experience. doi:10.1016/j.ymgme.2016.11.114
106 Home enzymatic therapy administration for Gaucher disease in Spain: first national experience Vicente Giner-Galvaña, Carmen Mora-Valb, Javier Perpiñán-Hernándezc, Irene Vazquezd, Xavier Solaniche, Carmen Sanzof, Armando Luañag, Jesus M. Lopez-Duplah, Esperanza Fernandezi, Horacio Canoj, aInternal Medicine Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, b Haematology Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, c Internal Medicine Department. Hospital Mare de Déu dels Lliris, Alzira, Spain, dHospital Can Misses, Ibiza, Spain, eHospital Bellvitge, Barcelona, Spain, fHospital Central Universitario de Asturias, Oviedo, Spain, gHospital Arnau de Vilanova, Lleida, Spain, hHospital Joan XXIII, Tarragona, Spain, i Hospitral de Plasencia, Plasencia, Spain, jHospital Los Arcos del Mar Menor, San Javier. Murcia, Spain Objective: To describe the experience of the first home therapy national program (HTp) in Spain for the administration of enzymatic treatment for patients with Gaucher disease (GD). Methods: Descriptive study of the initial HTp in Spain until September 2016 (near 2 years of experience). Results: 11 patients in 9 hospitals have been included in the HTp for GD. They are from 6 regions, mostly in the east part of the country: 4 in Comunitat Valenciana, 3 in Catalunya, and 1 each in Murcia, Illes Balears and Asturias. Patients are mainly controlled by hematologists (63%), with the remaining 36% controlled by general internists. Except for the hospital of Alcoi (310 beds) and Alzira (301 beds), with 2 patients each, the rest of the participant centers has 1 patient included in the program. The size of the participating hospitals determined by the number of beds is very heterogeneous, with a median (range) 331 (177-1.324) beds/hospital. There was not a relationship between the size of the hospital and the number of included patients. 81.8% of the hospitals also have patients with Fabry disease included in the HTp, mainly those in the Comunitat Valenciana. There was not any secondary effect related to the infusions and none of the initially included patients left the program. Conclusions: The initial experience in the HTp in Spain for the treatment of GD is demonstrating that is a good option since any infusion-related secondary effect has been communicated, and all the patients has been stable in their illness. The convenience of implementation of the program is illustrated by the permanence of all the initial patients and their personal opinions. It is also noteworthy the high heterogeneity in the regional participation as well as the type of hospitals participating. doi:10.1016/j.ymgme.2016.11.115
107 Proposal of a tool for the asessement of quality of Gaucher disease clinical management Vicente Giner-Galvaña, Maria A. Fernandezb, Jesus Villarrubiac, Jorge J. Fernandezd, Ramiro Nuñeze, Carlos A. Arenasf, aInternal Medicine Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, bHospital
S54
Abstracts / Molecular Genetics and Metabolism 120 (2016) S17–S145
Virgen del Puerto, Plasencia, Spain, cHospital Universitario Ramón y Cajal, Madrid, Spain, dHospital do Meixoeiro, Vigo, Spain, eHospital Universitario Virgen del Rocio, Sevilla, Spain, fSociedad Española de Directivos de Salud(SEDISA), Madrid, Spain Objective: To describe a proposal for a tool to assess the quality of the medical care received by patients with Gaucher disease (GD). Methods: The process has comprised: identification and validation of indicators, selection and revision of the indicators, national Delphi consensus, and final written document. All the phases were supervised by a group of 7 national experts on GD (Central Expert committee, CEc)with the support of a methodological group. For the Delphi phase 31 Spanish national experts were contacted. Results: For phase 1 an electronical search using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) methodology was made to include all GD-related publications until October 2013. 5.110 publications were identified. There were not any publication about quality of care in GD. 121 of the publications were selected for a full reading. a further analysis, 73 initial recommendations were obtained about “what is necessary to be done for a correct management of GD patients” based on the 96 publications finally included. The recommendations were organized covering three clinical aspects: diagnosis, treatment and follow-up. After discussion among the CEc, a 55 indicators version was sent twice to 31 external experts with an evaluation of each proposed indicator using a Liker scale. For the final version 19 indicators were included: 10 for diagnosis, 7 for treatment, and 2 for follow-up. For each indicator a chart was elaborated including definition, some clinical comments, how to calculate the indicator, level to be achieved, and bibliography. Conclusions: Although the process of quality is essential to improve health care, there is not any specific document proposing quality indicators for GD. Probably, a specific document for each Health system is necessary. Nowadays the proposed tool is been tested in Spain to assess its usefulness. doi:10.1016/j.ymgme.2016.11.116
108 Home enzymatic therapy administration program for lysosomal diseases in Spain: first national experience Vicente Giner-Galvaña, Joan Torrasb, Javier Perpiñanc, Vicens Torregrosad, Maria Luisa Martine, Angeles Moraa, Roser Torraf, Horacio Canog, Esperanza Fernandezh, Jesus M. Lopez Duplai, Armando Luañae, Carmen Sanzoj, Xavier Solanichk, Irene Vazquezl, a Hospital Mare de Déu dels Lliris, Alcoy, Spain, bHospital Bellvitge, Barcelona, Spain, cHospital de la Ribera, Alzira.Valencia, Spain, dHospital Clinic, Alcoy, Spain, eHospital Arnau de Vilanova, Lleida, Spain, fFundacio Puigvert, Barcelona, Spain, gHospital Los Arcos del Mar menor, San Javier.Murcia, Spain, hHospital de Merida, merida, Spain, iHospital Juan XXIII, Tarragona, Spain, jHospital Central Unicersitario Central Asturias, Oviedo, Spain, kHospital Bellvitge, Varcelona, Spain, lHospital Can Misses, Ibiza, Spain Objective: To describe the experience of the first home therapy national program (HTp) in Spain for the administration of enzymatic treatment for patients with Gaucher (GD) and Fabry disease (FD). Methods: Descriptive study of the initial HTp in Spain until September 2016 (near 2 years of experience). Results: 30 patients (11 with GD, and 19 with FD) from 11 different hospitals in 6 regions are participating (September 2016) in the HTp, with a higher number of centers from the east part of Spain (Illes Balears, Comunitat Valenciana and Catalunya; 26 patients), mainly from Catalunya (6 hospitals) and Comunitat Valenciana (2 hospitals).
Participating hospitals are very heterogeneous taking into account their size, with (median [interval]) 331 [124-1,324] beds/hospital. The bigger hospitals were the Hospital General de Asturias (1,324 beds), and those in Catalunya (more or near 500 beds in 3 of 5 hospitals). By medical specialty, 31.2 % of the 16 participating physicians are general internists, with the same percentage for hematologists, and 25 % nephrologists. Six centers have 1-2 patients included in the program, with Hospital de Bellvitge (619 beds) having 7 and Hospital de Alcoi (310 beds) with 6, as those with the highest number of patients. There was not any secondary effect related to the infusions and none of the initially included patients left the program. Conclusions: The initial experience in the HTp in Spain for the treatment of lysosomal diseases has an initial positive result as demonstrated by the fact that there has not been any secondary documented effect or worsening in the control of the patients. It is noteworthy; however the scarce number of patients and centers to be included in the program, with a very high heterogeneity in the actual active program. doi:10.1016/j.ymgme.2016.11.117
109 Qualitative evaluation of home therapy administration of enzymatic treatment for patients with Gaucher and Fabry disease in the Comunitat Valenciana in Spain: point of view of patients and health care professionals Vicente Giner-Galvaña, Olga Carrascosa-Piquerb, Carmen Mora-Valc, Javier Perpiñán-Hernándezd, Mercedes Almela-Tejedoe, Silvia CornejoUixedaf, Gema Sarrió-Montesc, Agustín Sánchez-Alcarazg, David Vicente-Navarroa, Francisco Javier Sanz-Garcíaa, aInternal Medicine Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, bHaematology Department. Hospital de La Ribera, Alcoy, Spain, cHaematology Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, dInternal Medicine Department. Hospital de La Ribera., Alzira, Spain, eHospitalary Pharmacy Department. Hospital Mare de Déu dels Lliris, Alcoy, Spain, fHarmatology Department. Hospital de La Ribera., Alzira, Spain, gHaematology Department. Hospital de La Ribera., Alzira, Spain Objective: To know how patients and health care professionals in the hospital and in the Home Therapy (HT) program rate this program after the change from in-hospital (Hp) velaglucerase-α and agalsidase-α infusion. Methods: In July 2015-April 2016 4 subjects with type 1 Gaucher disease (GD) and 6 with Fabry disease (FD) in the hospitals of Alzira and Alcoy (Comunidad Valenciana, Spain) have received enzymatic treatment at home by a specifically trained team independent of the hospital. One year after the beginning a qualitative survey was answered by patients, hospital pharmacists, hospital and HT nurses. A 0 to 10 scale (0 as the worst opinion. 10 as the best opinion) was applied to express the personal opinion about global evaluation as well as for comfort, security, confidence, and flexibility. Results: 135 infusions were made (88 agalsidase-α and 47 velaglucerase-α). The majority of the opinions were very positive, especially from the patients, with the lowest rates from professionals, with a high heterogeneity among the second collective. 80% of the patients rated as 10 and 20% as 9 the global service. For all the nursery in the HT the global opinion was rated with an 8, with hospital pharmacists showing a similar rating for the two hospitals (9 and 10), although with a huge difference when considering hospital nursery (7 and 10). For all the collectives the worst result was for “Security”, with the lowest punctuation being 7. From a global point of view the lowest punctuation for all the items was emitted by the hospital nursery, with a very high heterogeneity (4 vs. 10).