Analysis of Spanish Experience During Imiglucerase Shortage

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 4725-4725
Author(s):  
Pilar Giraldo ◽  
Pilar Irún ◽  
Pilar Alfonso ◽  
Jaime Dalmau ◽  
MAngeles Fernández-Galán ◽  
...  
Keyword(s):  
Haemoglobin Level ◽  
Gaucher Disease ◽  
Bone Pain ◽  
Position Statement ◽  
Activity Increase ◽  
Platelet Counts ◽  
Enzyme Replacement ◽  
European Working ◽  
Before And After ◽  
Risk Patients

Abstract Abstract 4725 In the last twenty years enzyme replacement therapy (ERT) with imiglucerase has been a clinically effective for Gaucher disease (GD). The recombinant glucocerebrosidase administered intravenously - usually at biweekly intervals by lifelong has improved the quality of life of patients, avoided spleen removal and bone complications. In the last months an acute shortage of imiglucerase manufactured by the Genzyme Corporation (MA, USA) has occurred as a result of viral contamination firstly and other deficiencies in the production facility. In September 2009 a position statement based on the findings of the European Working Group for Gaucher Disease and European Gaucher Alliance, established a set of key recommendations about identification and monitoring of at-risk patients threatened. In Spain the follow-up of patients and the strict complementation of rules of therapy have permitted to obtain a profile of the situation in a group of patients with restricted ERT. Patients and Methods: A total of 50 GD1 patients have been analyzed before and after 6 and 12 months of imiglucerase shortage. Have been excluded for analysis children in order to dose reduction has been minimal as well as patients who have switched to another ERT or miglustat therapy. Results: Gender: 25 males/25 females. Mean age of group: 45.3±15.3 (range:18-84) SSI at diagnosis(Dx): 8.7±3.8 (range:3-19) Chitotriosidase (CT) activity at Dx:13,383±12,783 nM/mL.h; CCL18/PARC at Dx: 767±1,198 ng/mL. 20% of patients were splenectomized and 78% had bone disease at Dx. During shortage 23 patients (46%) discontinued therapy, in this period only one patient suffered a bone crisis and other anaemia as complications. Mean reduction of haemoglobin level: 2.7% (NS), platelet counts: 5.4% (NS). CT activity was increased 135% (p<0.03) and CCL18/PARC 8.2% (p<0.08). In 17 patients (34%) imiglucerase was reduced at 50%, in this period seven patients (41.0%) suffered a bone pain and four patients (23.5%) required support therapy. Mean reduction of haemoglobin level 2.9% (NS), no changes in platelet counts. CT activity increase 48.2% (p<0.03) and not changes in CCL18/PARC concentration was observed. In addition in 3 patients (6%) the reduction was 75% and 7 patients (14%) switched to another ERT (4 patients) or miglustat (3 patients). Conclusions: In our experience, the shortage of imiglucerase in the last months has produced a incidence in bone pain of 20% and one case with anaemia and significant increase of CT activity and no significant changes in blood counts and CCL concentration, 14 % patients has required switch another therapy. Disclosures: Off Label Use: Lenalidomide is not approved for the treatment of smoldering multiple myeloma.

Immune Thrombocytopenia in Type I Gaucher Disease.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 3200-3200 ◽  
Author(s):  
Hanna Rosenbaum ◽  
Tina Napso ◽  
Lilach Bonstein
Keyword(s):  
Bone Marrow ◽  
Gaucher Disease ◽  
Immune Modulation ◽  
Hematological Parameters ◽  
Autoimmune Disorder ◽  
Type I ◽  
Bleeding Tendency ◽  
Platelet Surface ◽  
Platelet Counts ◽  
Enzyme Replacement

Abstract Backgound: Type I Gaucher disease (GD) the non-neuronopathic form is characterized by hepatosplenomegaly, pancytopenia and skeletal complications due to the accumulation of glucocerebroside in macrophages. Thrombocytopenia is usually related to hypersplenism and/or infiltration of bone marrow by the lipid-laden macrophages namely Gaucher cells. Enzyme replacement therapy (ERT) restores the hemoglobin and platelet count in treated GD patients within 12–24 months of treatment. In GD patients, including ERT treated, with persistent low platelet counts other ethiological factors should be considered. Goals: To determine the etiology of persistent thrombocytopenia in Type I GD patients and to evaluate their clinical course and hematological parameters. Methods: Flow cytometric technique was used to detect platelet-surface associated IgG/M (PSIgG/M) in a cohort of 24 Type I GD patients followed at the Gaucher clinic in Haifa, Israel. The evaluated hematological parameters of the thrombocytopenic GD patients include: bleeding phenomena, concurrence of autoimmune phenomena, hematological malignancies and bone marrow findings. Results: Twenty four Type I GD patients, 15 females and 9 males with an age range of 35 to 80 years (median 53 years) were included in the study. Seventeen of the evaluated 24 patients were thrombocytopenic with platelet counts less than <100×109/l and 7/24 were in the normal range. Bone marrow aspirate was performed in 16 of the 17 thrombocytopenic patients and showed normal or hyperplasic megakariopoiesis together with Gaucher cells infiltrates. Six of the 17 thrombocytopenic patients received ERT for at least 24 months with no effect on the low platelet counts. Elevated platelet surface IgG was detected in 16/17(94%) of GD patients with thrombocytopenia and in only 1/7 (14%) of non thrombocytopenic patients (p<0.0001). In 6/17 of the thrombocytopenic patients, surface IgM (PSIgM) was found, in addition to the PSIgG. Those six patients are known with monoclonal IgM (concomitant Waldenstrom macroglobulinemia), markedly elevated polyclonal IgM levels, or lupus like autoimmune disorder which may have been responsible for the positive PSIgM. Only three thrombocytopenic patients with platelet counts less than 40×109/l had bleeding tendency (mainly purpura) with no response to steroid treatment (two of them were also resistant to ERT concerning their thrombocytopenia). Conclusions: Thrombocytopenia in Type I GD is related to either infiltration of bone marrow compromising megakariopoiesis or hypersplenism, but immune factors should also be considered. Despite the lack of response to steroids, the observed megakaryocytic hyperplasia in Gaucher infiltrated marrows, the failure to respond to ERT, and the presence of platelet surface antibodies in the thrombocytopenic patients, strongly implicate autoimmune etiology. The present study demonstrates that surface platelet antibodies may play a role in refractory thrombocytopenic GD patients. Since the role of splenectomy is controversial in GD, immune modulation approach should be considered.

scholarly journals Pivotal trial with plant cell–expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease

Blood ◽  
2011 ◽  
Vol 118 (22) ◽  
pp. 5767-5773 ◽  
Author(s):  
Ari Zimran ◽  
Einat Brill-Almon ◽  
Raul Chertkoff ◽  
Milan Petakov ◽  
Francisco Blanco-Favela ◽  
...  
Keyword(s):  
Adverse Events ◽  
Plant Cell ◽  
Gaucher Disease ◽  
Dose Group ◽  
Hypersensitivity Reactions ◽  
End Points ◽  
Platelet Counts ◽  
Enzyme Replacement ◽  
End Point ◽  
Unit Dose

Abstract Taliglucerase alfa (Protalix Biotherapeutics, Carmiel, Israel) is a novel plant cell–derived recombinant human β-glucocerebrosidase for Gaucher disease. A phase 3, double-blind, randomized, parallel-group, comparison-dose (30 vs 60 U/kg body weight/infusion) multinational clinical trial was undertaken. Institutional review board approvals were received. A 9-month, 20-infusion trial used inclusion/exclusion criteria in treatment-naive adult patients with splenomegaly and thrombocytopenia. Safety end points were drug-related adverse events: Ab formation and hypersensitivity reactions. Primary efficacy end point was reduction in splenic volume measured by magnetic resonance imaging. Secondary end points were: changes in hemoglobin, hepatic volume, and platelet counts. Exploratory parameters included biomarkers and bone imaging. Twenty-nine patients (11 centers) completed the protocol. There were no serious adverse events; drug-related adverse events were mild/moderate and transient. Two patients (6%) developed non-neutralizing IgG Abs; 2 other patients (6%) developed hypersensitivity reactions. Statistically significant spleen reduction was achieved at 9 months: 26.9% (95% confidence interval [CI]: −31.9, −21.8) in the 30-unit dose group and 38.0% (95% CI: −43.4, −32.8) in the 60-unit dose group (both P < .0001); and in all secondary efficacy end point measures, except platelet counts at the lower dose. These results support safety and efficacy of taliglucerase alfa for Gaucher disease. This study was registered at www.clinicaltrials.gov as NCT00376168.

Bone marrow relaxation times in Gaucher disease before and after enzyme replacement therapy

1997 ◽  
Vol 7 (4) ◽  
pp. 486-491 ◽  
Author(s):  
S. Magnaldi ◽  
R. Longo ◽  
M. Ukmar ◽  
M. Zanatta ◽  
M. Bottega ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Relaxation Times ◽  
Enzyme Replacement ◽  
Before And After

scholarly journals Open-Label, Expanded Access Study of Taliglucerase Alfa in Patients with Gaucher Disease Requiring Enzyme Replacement Therapy

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 3755-3755
Author(s):  
David J. Kuter ◽  
Michael Wajnrajch ◽  
Betina Hernandez ◽  
Rong Wang ◽  
Raul Chertkoff ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Research Funding ◽  
Hemoglobin Concentration ◽  
Open Label ◽  
Expanded Access ◽  
Platelet Counts ◽  
Enzyme Replacement ◽  
Treatment Naïve ◽  
Previously Treated

Abstract Taliglucerase alfa, an enzyme replacement therapy (ERT) approved in several countries for the treatment of adult and pediatric patients with Type 1 Gaucher disease, is the first FDA-approved plant cell-expressed recombinant therapeutic protein for humans. PB-06-004 (NCT00962260) was a multicenter, open-label, expanded access study designed to follow the safety of taliglucerase alfa in patients with Gaucher disease who required ERT and who were previously treated with imiglucerase but had a dose reduction or discontinued due to a shortage of imiglucerase. Eligible patients (aged ≥18 years) with Type 1 Gaucher disease received taliglucerase alfa every 2 weeks for ³9 months at a dose equivalent to their previous imiglucerase dose, before it was reduced or discontinued (Part A), and had the option of continuing treatment for up to 33 months (Part B); a later amendment allowed treatment-naïve patients. Fifty-eight patients received treatment (55.2% male, mean age 46.1 years, mean bi-weekly dose 35.2 U/kg, mean duration 17.8 months); 51 patients previously received ERT, 7 were treatment-naïve. Thirty-six patients completed the study. Hemoglobin concentration and platelet counts were also explored. Most adverse events (AEs) were mild or moderate in severity and not related to taliglucerase alfa; treatment-related AEs were mild and transient in nature. In previously treated patients, mean (SE) hemoglobin concentration was 13.0 (0.3) g/dL at baseline, 13.4 (0.2) g/dL at 9 months, and 13.4 (0.2) g/dL at last follow-up; mean (SE) platelet count was 179,242 (15,344)/mm3 at baseline, 209,727 (17,157)/mm3 at 9 months, and 215,242 (17,867)/mm3 at last follow-up. In treatment-naïve patients, mean hemoglobin concentration and platelet counts increased. In conclusion, taliglucerase alfa was well tolerated for up to 33 months of treatment and demonstrated a durable therapeutic effect, as evidenced by stable or improved hemoglobin concentration and platelet counts in this expanded access study. Disclosures Kuter: BMS: Research Funding; Bioverativ: Consultancy, Research Funding; Rigel: Consultancy, Research Funding; Protalex: Research Funding; Novartis: Consultancy; Principia: Research Funding; Amgen Inc.: Consultancy; Argenx: Consultancy; ONO: Consultancy; Syntimmune: Consultancy; Pfizer: Consultancy; Dova Pharmaceuticals: Consultancy, Membership on an entity's Board of Directors or advisory committees. Wajnrajch:Pfizer Inc: Employment. Hernandez:Pfizer Inc: Employment. Wang:Pfizer Inc: Employment. Chertkoff:Protalix Biotherapeutics: Employment. Zimran:Pfizer Inc: Honoraria; Shire: Honoraria, Research Funding; Sanofi: Honoraria, Research Funding; Genzyme: Honoraria, Research Funding.

scholarly journals Transformation in Pre-Treatment Presentations of Gaucher Disease during the First Two Decades of Imiglucerase Enzyme Replacement Therapy: A Report from the International Collaborative Gaucher Group Gaucher Registry

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 4877-4877
Author(s):  
Pramod Mistry ◽  
Neal J. Weinreb ◽  
Julie Batista ◽  
Hans C. Andersson ◽  
Manisha Balwani ◽  
...  
Keyword(s):  
Board Of Directors ◽  
Gaucher Disease ◽  
Research Funding ◽  
Bone Pain ◽  
Age Groups ◽  
Advisory Committees ◽  
Enzyme Replacement ◽  
Age Cohort ◽  
Pre Treatment ◽  
Prevalent Symptom

Abstract We hypothesized that the prevalence of clinical manifestations of Gaucher disease type 1 (GD1) at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991. US alglucerase/imiglucerase-treated GD1 patients (N=1,427) from the International Collaborative Gaucher Group Gaucher Registry (ClinicalTrials.gov NCT00358943, sponsored by Sanofi Genzyme) as of March 4, 2016 were stratified by age at ERT initiation: n=399 pediatric patients (<18 years); n=689 adults 18 to <50 years; n=339 adults ≥50 years. Pre-treatment demographics and splenectomy status were analyzed by 4 eras of ERT initiation (1991-1995, 1996-2000, 2001-2005, 2006-2009) and age at ERT initiation. Bone manifestations (avascular necrosis [AVN], infarction, bone crises, bone pain), hematologic parameters (platelet count, hemoglobin concentration), and liver volume were analyzed by age cohort, era of ERT initiation, and splenectomy status prior to beginning ERT, using the chi-square test, Fisher's exact test, or analysis of variance (ANOVA) as appropriate. Spleen volume for patients who had intact spleens prior to starting ERT was analyzed by age cohort and era of ERT initiation using ANOVA. The most striking difference between early and later time periods was the reduced prevalence of splenectomy across all age groups (p ≤0.0001). Splenectomized patients collapsed across eras presented with a significantly higher prevalence of AVN (p < 0.0001), infarctions (p <0.01), bone crises (p <0.0001), and bone pain (p <0.0001) than non-splenectomized patients in all 3 age groups. Prevalence of AVN (p <0.05), infarction (p<0.05), and bone crises (p<0.01) were significantly lower in later eras in the non-splenectomized pediatric group. Both the splenectomized and non-splenectomized groups of adults aged 18 to <50 years experienced a significantly lower prevalence of AVN (p <0.05), infarction (p <0.05), and bone crises (p <0.05). Infarctions were significantly less prevalent in non-splenectomized adults aged ≥50 years (p <0.05). Bone pain remained a prevalent symptom and was not significantly different across the eras for each age group. Differences were not observed in hematologic parameters. Hepatosplenomegaly remained a prevalent symptom at pre-treatment presentation across the eras, although spleen volumes for those with intact spleens were significantly lower in later eras for children and adults aged 18 to <50 years (p <0.01). Also of note, the interval between the median age at diagnosis and the initiation of imiglucerase ERT decreased in later eras; the most striking change was observed in children. Compared with patients who started treatment when ERT was first introduced, patients now tend to have a less severe GD1 phenotype and fewer irreversible manifestations of GD1 when starting treatment. Disclosures Mistry: Sanofi Genzyme: Honoraria, Research Funding, Speakers Bureau; ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees. Weinreb:Sanofi Genzyme: Consultancy, Honoraria, Research Funding; Shire HGT: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Pfizer Inc: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees. Batista:Sanofi Genzyme: Employment. Andersson:Sanofi Genzyme: Honoraria; ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees. Balwani:Sanofi Genzyme: Honoraria, Speakers Bureau; Alnylam Pharmaceuticals: Consultancy; ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees. Burrow:Sanofi Genzyme: Honoraria, Research Funding; Shire HGT: Honoraria; ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees. Charrow:Sanofi Genzyme: Consultancy, Honoraria, Research Funding, Speakers Bureau; Alexion: Consultancy; Shire HGT: Research Funding; BioMarin: Research Funding; Amicus Therapeutics: Research Funding; The National Gaucher Foundation: Speakers Bureau; Fabry Support & Information Group: Speakers Bureau; ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees. Kaplan:Sanofi Genzyme: Honoraria, Research Funding; Genetic Counselors: Research Funding; Pfizer Inc: Membership on an entity's Board of Directors or advisory committees; Alexion: Membership on an entity's Board of Directors or advisory committees; ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees. Khan:ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees; Shire HGT: Research Funding, Speakers Bureau; Sanofi Genzyme: Honoraria, Research Funding; Horizon Pharma: Consultancy, Research Funding; BioMarin: Consultancy, Research Funding; Alexion: Consultancy, Research Funding; Cytonet LLC: Consultancy, Research Funding, Speakers Bureau; Actelion: Consultancy, Research Funding, Speakers Bureau. Kishnani:Alexion: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Shire HGT: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Research Funding; Sanofi Genzyme: Consultancy, Honoraria, Research Funding; Amicus Therapeutics: Consultancy, Honoraria; Roche: Consultancy, Honoraria, Research Funding; Valerion Therapeutics: Research Funding; Pfizer Inc: Research Funding; National Institutes of Health: Research Funding; FDA: Research Funding; Patient-Centered Outcomes Research Institute: Research Funding; ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees; Pompe Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees. Kolodny:Shire HGT: Consultancy; ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees. Rosenbloom:Sanofi Genzyme: Honoraria; ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees. Scott:Sanofi Genzyme: Research Funding; ICGG Gaucher Registry (Sanofi Genzyme sponsored): Membership on an entity's Board of Directors or advisory committees.

Enzyme Replacement Therapy in Gaucher Disease: Beneficial Effects on Bone Crisis and Bone Pain.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3825-3825
Author(s):  
Gregory Grabowski ◽  
Joel Charrow ◽  
Neal J. Weinreb ◽  
Brian Dulisse
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Bone Pain ◽  
T Test ◽  
Clinical Effects ◽  
Enzyme Replacement ◽  
Number Of Patients ◽  
Type 1 Gaucher Disease

Abstract Bone crises and bone pain are major causes of morbidity in type 1 Gaucher disease (GD), patients. Enzyme replacement therapy (ERT) for GD has proven to be of clinical benefit in resolving hematologic abnormalities and organomegaly. However, the clinical effects of ERT on bone crisis and bone pain have not been fully evaluated. This paper reports the results of the first retrospective data analysis undertaken to examine the association between ERT in this population and the reduction of bone crisis and bone pain. Data were analyzed from the International Collaborative Gaucher Group Registry, established in 1991 as a longitudinal database to track the clinical outcomes of patients with GD, irrespective of treatment status. Inclusion criteria were GD type 1, treatment by ERT, and data available on the occurrence of bone crises and/or bone pain for 1 year prior to and for each of the 3 years following the initiation of ERT. A bone crisis was defined as pain with acute onset requiring immobilization, narcotics for pain, and periosteal elevation, leucocytosis, fever or debilitation. For bone crises and bone pain, 219 and 244 patients, respectively, met the criteria. TYPE 1 GAUCHER DISEASE PATIENTS WITH BONE CRISES AND BONE PAIN 1 YEAR PRE- AND 1, 2 AND 3 YEARS POST-ERT The numbers of patients with reports of bone crises and bone pain in each of the time periods are presented in the table. Bone crisis frequency, at 17% prior to ERT, declined to 5% or less in each of the 3 years following the initiation of ERT (t-test, p <0.0001). Similarly, bone pain, reported in 49% of patients prior to ERT, declined to approximately 30% in each of the 3 years following the initiation of ERT (t-test, p <0.0001) Yr from ERT initial infusion −1 YEAR 1 YEAR 2 YEARS 3 YEARS *n refers to number of patients Bone crisis n = 219(100%) 38(17%) 10(5%) 1(0%) 6(3%) Bone pain n = 244(100%) 119(49%) 74(30%) 71(29%) 73(30%) These results provide strong clinical evidence for ERT’s effectiveness in the reduction of bone crises and bone pain in type 1 GD.

scholarly journals Improvements in bone pain and patient quality of life in adults with Gaucher disease during substrate reduction therapy: a case series

2019 ◽  
Vol 8 (3) ◽  
Author(s):  
Dominick Amato ◽  
Patterson MA
Keyword(s):  
Quality Of Life ◽  
Gaucher Disease ◽  
Bone Pain ◽  
Age At Onset ◽  
Case Series ◽  
Substrate Reduction Therapy ◽  
Lysosomal Storage ◽  
Mineral Density ◽  
Enzyme Replacement

Background: Gaucher disease type 1 (GD1) is an inherited lysosomal storage disorder caused by a deficiency of glucocerebrosidase, and is characterised by haematological, visceral and bone manifestations that vary widely in terms of severity and age at onset. In particular, the bone manifestations of GD1 can restrict physical activity and impact heavily on patient quality of life (QoL). Here, we describe three GD1 patients who showed remarkable improvements in bone-related outcomes during treatment with oral miglustat, two of whom had previously failed to respond to relatively high doses of enzyme replacement therapy (ERT). In the third, needle phobia led to oral miglustat being used as the initial treatment. Case presentation: Case 1 is a 39 year-old female diagnosed aged 4 years (genotype N370S/L444P) and underwent ERT (alglucerase then imiglucerase) since 1994. In 2013 she discontinued ERT (treatment duration 19 years) due to ongoing and debilitating bone pain and fatigue, and switched to miglustat therapy. She has since experienced substantial reductions in bone pain and improved physical function. Case 2 is a 59 year-old female diagnosed aged 17 years (genotype N370S/H162P). She commenced ERT treatment in 2002, with a brief interruption in 2007, and continued on ERT (imiglucerase followed by velaglucerase) up to 2014: total ERT monotherapy duration 12 years. She subsequently received combination therapy (velaglucerase plus miglustat) for 2 years but finally switched to miglustat monotherapy in 2016 due to ongoing bone manifestations. Her bone pain has since improved a great deal, alongside improvements in QoL parameters. Case 3 is a 48 year-old male diagnosed aged 11 years (genotype R463C/L105R). Having not received any previous treatment he avoided ERT due to life-long needle phobia. He therefore started miglustat therapy in late-2017, and has received it for approximately 1 year. During this time he experienced vast improvements in QoL due to decreased bone pain. Interestingly in all three cases, there were little or no observed changes in objective bone parameters (bone marrow burden, bone mineral density). Conclusions: These three GD1 cases illustrate the potential to achieve substantial reductions in bone pain and improvements in QoL, even in patients who have failed to respond to long-term ERT with regard to bone status.

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