Long Term Outcome After Low Dose TBI Based Conditioning Hematopoietic Stem Cell Transplantation (HSCT) From Related and Unrelated Donors for Older Patients with AML

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 2030-2030
Author(s):  
Dietger Niederwieser ◽  
Leo F Verdonck ◽  
Jan J Cornelissen ◽  
Michael Cross ◽  
Rainer Krahl ◽  
...  
Keyword(s):  
De Novo ◽  
Chronic Gvhd ◽  
Disease Free Survival ◽  
Study Groups ◽  
Long Term Results ◽  
Term Outcome ◽  
Hematopoietic Stem ◽  
Long Term Outcome

Abstract Abstract 2030 HSCT after reduced or minimal intensity conditioning is increasingly used to treat AML patients not eligible for conventional HSCT. Short term outcome has been reported frequently and risk factors have been identified; long term results still await in depth evaluation. We report here 5 years follow up results from a prospective phase II study conducted by two AML study groups in Europe. Patients were recruited from AML protocols HOVON/SAKK AML 43 and the OSHO AML 1997 study. The regimen consisted of fludarabine (FLU), 30 mg/m2/d on days −4, −3, and −2, 2 Gy TBI on day 0 (the day of HSCT) with mycophenolate mofetil, [15 mg/kg p.o. b.i.d. from 5 hours after HSCT to day +40], and cyclosporine, [CSP; 6.25 mg/kg p.o. bid from day –3 to day +180] after HSCT. Cyclosporine was adjusted to trough levels and reduced according to a predetermined tapering schedule and donor type. A total of 96 patients were recruited between 5/2002 and 8/2005 in the study. Age was median 62 (range 40 – 74) years, 54 patients were male (56%) and 73 patients (76%) had de novo AML. The remission status on entry was CR1 in 83 (86%) patients and CR2 in 13 (14%). Of the 96 patients, 20% had high risk cytogenetics and SCT was performed a median of 75 days after chemotherapy. There were no statistical differences in the above described characteristics except for more secondary AML (p=0.04) and more CR2 patients (p=0.07) among the 59 unrelated SCT (61%) as compared to the 37 related SCT (39%). Graft rejection at two years was observed in 6% of the patients. Absence of chronic GvHD was diagnosed in 40% and limited chronic GvHD in 29% of the patients, with no difference between related and unrelated SCT. Probability of overall survival (OS) at 6 years with a median follow up of 64 (49–92) months reaches a plateau after 5 years at 0.33±0.05 and was not significantly better in CR1 than in CR2. However, there was a trend towards better OS at 6 years for unrelated 0.41±0.11 as compared to related 0.29±0.07 SCT (p=0.08) in CR1 only. This difference was significant for disease free survival (DFS) (0.48±0.09 unrelated vs 0.27±0.06 related; p=0.04), the major reason being a higher relapse rate in related as compared to unrelated SCT (0.62±0.08 vs 0.40±0.09). The overall non-relapse mortality at 6 years was 0.21±0.05. We conclude that OS and DFS reach a stable plateau from 5 years after SCT to more than 8 years after SCT. In CR1 patients, DFS is superior after unrelated as compared to related SCT. Accordingly, strategies designed to decrease relapse, especially after related SCT, have already been implemented in the ongoing protocols. The preferential use of unrelated rather than related donors may be beneficial and should be considered in future protocols. Disclosures: Off Label Use: Transplantation in elderly patients.

Long Term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Beta Thalassemia Major

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 4606-4606
Author(s):  
Fouzia NA ◽  
Sindhuvi E ◽  
Kavitha ML ◽  
Korula A ◽  
Abraham A ◽  
...  
Keyword(s):  
Chronic Gvhd ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Endocrine Disorders ◽  
Term Outcome ◽  
Term Survival ◽  
Hematopoietic Stem ◽  
Long Term Outcome

Abstract Introduction:Allogeneic hematopoietic stem cell transplantation (HSCT) cures beta thalassemia major (TM). Such individuals, ex-thalassemics, have good long term survival. However, there is limited data on long term outcome (LTO) of this therapy. This is particularly relevant as these patients often have organ dysfunction pre-transplant due to secondary hemosiderosis apart from the impact of post-transplant factors such as chronic GVHD, chimerism status and iron depletion therapy (IDT). In this report, we describe the LTO of patients with TM who underwent HSCT with busulfan (Bu) and cyclophosphamide (Cy) conditioning at our center from 2000 to 2011 and had a minimum of 2 year follow-up. Method: Data was extracted from prospectively maintained standardized case record forms for details of HSCT and long term follow-up with particular reference to GVHD, chimerism (evaluated at day +30, +60, +100 and thereafter as indicated), IDT (initiated at variable periods post-HSCT) and metabolic and endocrine disorders evaluated on physician discretion or as per clinical indications. Results:A total of 190 patients underwent matched related donor HSCT from 2001 to 2011 with Bu/Cy based conditioning. After excluding those who expired or had primary graft failure or did not have at least 2 years of follow-up, 124 patients were available for analysis of LTO. 44 patients (35.5%) class 3, 69 patients (55.6%) class 2 and 11 patients (8.9%) class 1. The median age was 7 years (range: 2-24) with 81 males (65.3%). The median follow-up was 7 years (range: 2 to 14). Chronic GVHD was present in 22 patients (17.7%]. Mixed chimerism (MC) occurred in 40 patients (32%) in the first year after HSCT: level I in 21 (52.5%), level II in 10 (25%), level III in 7 (17.5%), and level unknown in 2(5%). At last follow-up, 20/40 (50%) patients with MC went on to CC, 18 maintained stable MC (level I-5, level II-9 and level III-4) with hemoglobin of 11.35g/dl (range: 9-13.5), while 2 (5%) with level 3 MC remained transfusion dependent. Median serum ferritin (SF) at HSCT was 2367 ng/ml (range: 685-7660). IDT was initiated in 90 (72.6%) patients at a median of 15 months (range: 6-53) post-HSCT - 13 patients (14.4%) were treated with phlebotomy alone, while 39 (43.3%) received chelation and 38 (42.2%) the combination. Reduction in SF/month [absolute quantity (ng/ml/month) and percent] was as follows: 40.5 (range: 11.68 - 125.78); 1.67% (range: 0.5-4.58), 54.9 (range: 9.3- 278.7); 2.1% (range: 0.41- 13.8) and 36.6 (range: 3.51-590.7); 1.3% (range: 0.42-42.99), in the phlebotomy, chelation and combination groups, (p=0.077 & 0.017, respectively). SF level of <300 ng/ml was achieved in 33 patients (31%) at last follow-up. Anthropometry measurements (at last follow up) revealed short stature in 53 patients (42.7%; 38M/15F), underweight in 32 patients (25.8%; 20M/12F) and overweight in 14 (11.3%) patients (11M/3F). A total 48 patients (38.7%) had the following endocrine disorders: hypogonadism in 33 (73.3%), primary hypothyroidism in 9 (18.8%), hypopituitarism in 4 (8.3%), diabetes mellitus in 3 (6.2%), and hypoparathyroidism, dyslipidemia and hypertension in 1 patients each. 40 patients were vitamin D deficient (83.3%). Endocrine complications were more common in female patients (55.8% versus 29.6%; p=0.006). Two patients (1.3%) developed malignancies at 7 and 8 years, post-HSCT. Among different patient, donor and graft characteristics, there were no predictors of MC, nor did the ferritin levels or chelation therapy post-HSCT affect the incidence of endocrine complications in this cohort. Conclusion: Our data shows that even though the long term survival of ex-thalassemics is extremely good, at least 40% of them suffer from several co-morbidities related to iron overload and various metabolic and endocrine disorders which requires a coordinated plan for their management. The aim therefore should be to transplant these patients as early as possible before such complications occur and implement IDT intensively early after HSCT. Disclosures No relevant conflicts of interest to declare.

Long Term Results of Stanford V Regimen and Highly Active Antiretroviral Therapy (HAART) In 59 Patients (pts) with HD and HIV Infection (HD-HIV)

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 4827-4827
Author(s):  
Michele Spina ◽  
Jean Gabarre ◽  
Salvatrice Mancuso ◽  
Alessandro Re ◽  
Clara Schiantarelli ◽  
...  
Keyword(s):  
Highly Active Antiretroviral Therapy ◽  
Conflicts Of Interest ◽  
Prognostic Score ◽  
Disease Free Survival ◽  
Long Term Results ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Free Survival

Abstract Abstract 4827 Background: The introduction of HAART has significantly improved the outcome of pts with HD-HIV. However there are no data on the long term follow-up of HD-HIV pts treated with conventional chemotherapy (CT) regimens. In 2002, we reported the results of a prospective phase II study with the intensive 12-week CT with adjuvant radiotherapy (Stanford V) and concomitant HAART in 59 pts (Spina et al. Blood 2002;100:1984-1988). Methods: To analyze the long term outcome of patients included in the Stanford V and HAART protocol. Results: The median follow-up is 67months (range 3–156 months The 5-yr overall survival (OS), freedom from progression (FFP), disease free survival and event free survival are 54%, 52%, 60% and 37%, respectively. The 5-year OS is significantly different in pts with an international prognostic score (IPS) >2 in comparison to that of pts with an IPS <3 (84% vs 36%, p= 0.0005). Similarly, the percentages of FFP at 5 years in these groups are 72% and 45% (p= 0.03). Conclusions: Our data confirm the long term efficacy of Stanford V regimen in combination with HAART in HD-HIV. However, Stanford V is significantly less effective in pts with IPS>2 and therefore new strategies be tested in this setting. Supported by AIRC and ISS grants. Disclosures: No relevant conflicts of interest to declare.

Fractures and Fracture Dislocations of the Midfoot: Occurrence, Causes and Long-term Results

2001 ◽  
Vol 22 (5) ◽  
pp. 392-398 ◽  
Author(s):  
Martinus Richter ◽  
Burkhard Wippermann ◽  
Christian Krettek ◽  
Hanns Eberhard Schratt ◽  
Tobias Hufner ◽  
...  
Keyword(s):  
Open Reduction ◽  
Traffic Accidents ◽  
Fracture Dislocation ◽  
Long Term Results ◽  
Treatment Optimization ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Fracture Dislocations

Etiology and outcome of 155 patients with midfoot fractures between 1972 and 1997 were analyzed to create a basis for treatment optimization. Cause of injuries were traffic accidents (72.2%), falls (11.6%), blunt injuries (7.7%) and others (5.8%). Isolated midfoot fractures (I) were found in 55 (35.5%) cases, Lisfranc fracture dislocations (L) in 49 (31.2%), Chopart-Lisfranc fracture dislocations (CL) in 26 (16.8%) and Chopart fracture dislocations (C) in 25 (16%). One hundred and forty eight (95%) of the midfoot fractures were treated operatively; 30 with closed reduction, 115 with open reduction, 3 patients had a primary amputation. Seven (5%) patients were treated non-operatively. Ninety seven (63%) patients had follow-up at an average of 9 (1.3–25, median 8.5) years. The average scores of the entire follow-up group were as follows: AOFAS – sum of all four sections (AOFAS-ET): 296, AOFAS-Midfoot (AOFAS-M): 71, Hannover Scoring System (HSS): 65, and Hannover Questionnaire (Q): 63. Regarding age, gender, cause, time from injury to treatment and method of treatment no score differences were noted (t-test: p > 0.05). L, C or I showed similar scores and CL significantly lower scores (AOFAS-ET, AOFAS-M, HSS, Q). The highest scores in all groups were achieved in those fractures treated with early open reduction and operative fixation. Midfoot fractures, particularly fracture dislocation injuries, effect the function of the entire foot in the long-term outcome. But even in these complex injuries, an early anatomic (open) reduction and stable (internal) fixation can minimize the percentage of long-term impairment.

Abstract WP130: Long Term Outcome of Large and Giant Unruptured Intracranial Aneurysms

Stroke ◽  
2020 ◽  
Vol 51 (Suppl_1) ◽  
Author(s):  
Issei Kan ◽  
Toshihiro Ishibashi ◽  
Ichiro Yuki ◽  
Masayuki Ebara ◽  
Hideki Arakawa ◽  
...  
Keyword(s):  
Endovascular Therapy ◽  
Intracranial Aneurysms ◽  
Long Term Results ◽  
Final Visit ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Unruptured Intracranial Aneurysms ◽  
Retreatment Rate

Objectives: Long term outcome of large / giant unruptured intracranial aneurysms (LG-UIAs) after endovascular therapy is still unknown. We retrospectively analyzed long-term results of patients with LG-UIAs who were followed up more than 5 years after endovascular therapy. Methods: We included patients from our complete database with UIAs greater than 10mm and treated at our hospital from January 2003 to December 2013. Retreatment rate of targeted aneurysms, rupture rate, and the modified Rankin scale (mRS) at last visit were evaluated till December 2018. Results: From 142 patients treated during the period were excluded 3 patients with perioperative rupture and 38 patients with less than 5 years follow-up period, finally analyzing 101 patients. The median aneurysm size was 12.0 mm (IQR 10.8-15). The median follow-up period was 9.4 years (IQR: 7-11), the longest being 13.3 years. Retreatment was performed on 36 patients (35.6%). Comparing cumulative re-treatment rates in groups with aneurysm sizes <15 mm and> 20 mm, it was predominantly higher for aneurysms> 20 mm (P = 0.02, Figure1 ). Rupture of targeted aneurysms was observed in 2 cases (1.98%, Figure2 ), and the longest period from last treatment was up to 12 years. The mRS 0-1 at the first treatment and the final visit were 98% and 93%, respectively, and mRS deterioration remained at 5%. Conclusion: The retreatment rate tended to increase in proportion to the size of the aneurysm, however the final neurological outcome was favorable when considering the natural history of these aneurysms. Since aneurysmal rupture could occur after 12 years of treatment, long-term follow-up should be considered for LG-UIAs.

STEREOTACTIC VENTRICULOPERITONEAL SHUNTING FOR REFRACTORY IDIOPATHIC INTRACRANIAL HYPERTENSION

Neurosurgery ◽  
2007 ◽  
Vol 60 (6) ◽  
pp. 1039-1044 ◽  
Author(s):  
Basel Abu-Serieh ◽  
Keyvan Ghassempour ◽  
Thierry Duprez ◽  
Christian Raftopoulos
Keyword(s):  
Intracranial Hypertension ◽  
Idiopathic Intracranial Hypertension ◽  
Long Term Results ◽  
Ventricular Catheter ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Visual Deficits ◽  
Ventriculoperitoneal Shunting

Abstract OBJECTIVE Recent reports have shown promising short- to medium-term results in patients with refractory idiopathic intracranial hypertension (IIH) treated using the stereotactic ventriculoperitoneal shunting (SVPS) technique. However, the long-term clinical efficacy of this technique remains questionable. This report provides the long-term results of SVPS in treating refractory IIH patients. METHODS We reviewed the medical charts of nine consecutive patients (mean age, 26.4 yr; range, 4–63 yr) treated using either a frame-based or frameless SVPS technique for IIH. RESULTS The mean postoperative follow-up period was 44.3 months (range, 6–110 mo). Before shunting procedures were performed, each patient presented with intractable headache, and five patients (55.6%) had mild to moderate visual deficits. The last follow-up assessment showed that after shunting was performed, eight patients (89%) were headache-free. Only one patient had recurrent headache; however, this patient's pain was much less frequent and severe than before the shunting procedure was completed and was concomitant with recent weight increase. Visual deficits were resolved in three patients and remained stable in two who already had optic nerve atrophy before shunting was completed. Twelve SVPS procedures were performed on our patients. Nine shunt revisions were needed in six patients because of infection (n = 5, including two revisions in one patient), valve dysfunction (n = 2), distal obstruction (n = 1), and ventricular catheter malpositioning (n = 1). No patient had proximal catheter obstruction. CONCLUSION Given the favorable long-term outcome of the SVPS technique for refractory IIH, we are encouraged to apply this procedure on our patients. More invasive approaches should be reserved for patients who have SVPS failure.

scholarly journals Long-term outcome of patients with steroid-refractory acute severe UC treated with ciclosporin or infliximab

Gut ◽  
2017 ◽  
Vol 67 (2) ◽  
pp. 237-243 ◽  
Author(s):  
D Laharie ◽  
A Bourreille ◽  
J Branche ◽  
M Allez ◽  
Y Bouhnik ◽  
...  
Keyword(s):  
Initial Treatment ◽  
Survival Rates ◽  
Similar Efficacy ◽  
Long Term Results ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Free Survival ◽  
Steroid Refractory

ObjectiveCiclosporin and infliximab have demonstrated short-term similar efficacy as second-line therapies in patients with acute severe UC (ASUC) refractory to intravenous steroids. The aim of this study was to assess long-term outcome of patients included in a randomised trial comparing ciclosporin and infliximab.DesignBetween 2007 and 2010, 115 patients with steroid-refractory ASUC were randomised in 29 European centres to receive ciclosporin or infliximab in association with azathioprine. Patients were followed until death or last news up to January 2015. Colectomy-free survival rates at 1 and 5 years and changes in therapy were estimated through Kaplan-Meier method and compared between initial treatment groups through log-rank test.ResultsAfter a median follow-up of 5.4 years, colectomy-free survival rates (95% CI) at 1 and 5 years were, respectively, 70.9% (59.2% to 82.6%) and 61.5% (48.7% to 74.2%) in patients who received ciclosporin and 69.1% (56.9% to 81.3%) and 65.1% (52.4% to 77.8%) in those who received infliximab (p=0.97). Cumulative incidence of first infliximab use at 1 and 5 years in patients initially treated with ciclosporin was, respectively, 45.7% (32.6% to 57.9%) and 57.1% (43.0% to 69.0%). Only four patients from the infliximab group were subsequently switched to ciclosporin. Three patients died during the follow-up, none directly related to UC or its treatment.ConclusionsIn this cohort of patients with steroid-refractory ASUC initially treated by ciclosporin or infliximab, long-term colectomy-free survival was independent from initial treatment. These long-term results further confirm a similar efficacy and good safety profiles of both drugs and do not favour one drug over the other.Trial registration numberEudraCT: 2006-005299-42; ClinicalTrials.gouv number: NCT00542152; post-results.

scholarly journals Short- and Long-term Outcome After Interventional VSD Closure: A Single-Center Experience in Pediatric and Adult Patients

2020 ◽  
Author(s):  
M. Bergmann ◽  
C. P. Germann ◽  
J. Nordmeyer ◽  
B. Peters ◽  
F. Berger ◽  
...  
Keyword(s):  
Long Term Results ◽  
Residual Shunt ◽  
Closure Rate ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Surgical Closure ◽  
Interventional Closure ◽  
Term Data

Abstract Interventional closure of congenital ventricular septal defects (VSD) is recording a continuous rise in acceptance. Complete atrioventricular block (cAVB) and residual shunting are major concerns during follow-up, but long-term data for both are still limited. We retrospectively evaluated the outcome of patients with interventional VSD closure and focused on long-term results (> 1 year follow-up). Transcatheter VSD closures were performed between 1993 and 2015, in 149 patients requiring 155 procedures (104 perimembranous, 29 muscular, 19 residual post-surgical VSDs, and 3 with multiple defects). The following devices were used: 65 × Amplatzer™ Membranous VSD Occluder, 33 × Duct Occluder II, 27 × Muscular VSD Occluder, 3 × Duct Occluder I, 24 × PFM-Nit-Occlud®, and 3 × Rashkind-Occluder. The median age at time of implantation was 6.2 (0.01–66.1) years, median height 117 (49–188) cm, and median weight 20.9 (3.2–117) kg. Median follow-up time was 6.2 (1.1–21.3) years and closure rate was 86.2% at last follow-up. Complications resulting in device explantation include one case of cAVB with a Membranous VSD occluder 7 days after implantation and four cases due to residual shunt/malposition. Six (4%) deaths occurred during follow-up with only one procedural related death from a hybrid VSD closure. Overall, our reported results of interventional VSD closure show favorable outcomes with only one (0.7%) episode of cAVB. Interventional closure offers a good alternative to surgical closure and shows improved performance by using softer devices. However, prospective long-term data in the current era with different devices are still mandatory to assess the effectiveness and safety of this procedure.

Long-Term Follow-up after Robotic Cholecystectomy

2005 ◽  
Vol 71 (4) ◽  
pp. 281-285 ◽  
Author(s):  
Johannes Bodner ◽  
Elisabeth Hoeller ◽  
Heinz Wykypiel ◽  
Paul Klingler ◽  
Thomas Schmid
Keyword(s):  
Gallstone Disease ◽  
Long Term Results ◽  
Da Vinci Surgical System ◽  
Life Questionnaire ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Blood Tests ◽  
Robotic Cholecystectomy

Most surgeons gain their first clinical experience with surgical robots when performing cholecystectomies. Although this procedure is rather easily applicable for the da Vinci surgical system, the long-term outcome after this operation has not yet been clarified. This study follows up our institutional first series of robotic cholecystectomies (June to November 2001). Patients were assessed on the basis of standardized management including a quality-of-life questionnaire, clinical examination, blood tests, and abdominal sonogram. The follow-up rate for 23 patients after robotic cholecystectomy was 100 per cent and the median follow-up time 33 (30–35) months. There was one (4%) recurrence of gallstone disease in a patient who suffered from solitary choledocholithiasis 29 months after robotic cholecystectomy. Abdominal sonogram, clinical examinations, and blood tests revealed no post-cholecystectomy-specific pathological findings. The main long-term symptoms were bloating (57%), heartburn (43%) and nausea (30%). Of the patients, 96 per cent (22 patients) felt that the operation had cured or significantly improved their specific preoperative symptoms. Long-term results after robotic laparoscopic cholecystectomy are excellent and comparable to those for the conventional laparoscopic procedure. The advanced vision control and instrument maneuverability of robotic surgery might open minimally invasive surgery also for complicated gallstone disease and bile duct surgery.

Long Term Outcomes of Hematopoietic Stem Cell Transplantation in Patients with Severe Phenotype Hurler Syndrome: an International Multi-Center Study

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 1958-1958
Author(s):  
Mieke Aldenhoven ◽  
Maria Escolar ◽  
Robert Wynn ◽  
Ed Wraith ◽  
Anne O'Meara ◽  
...  
Keyword(s):  
Mixed Chimerism ◽  
Hurler Syndrome ◽  
Long Term Outcomes ◽  
Term Outcome ◽  
Hematopoietic Stem ◽  
Long Term Outcome ◽  
Donor Chimerism ◽  
Normal Enzyme

Abstract Abstract 1958 Background: Hurler syndrome (HS), the most severe phenotype in the spectrum of Mucopolysaccharidosis type I, is caused by a deficiency of the lysosomal enzyme alpha-L-iduronidase. HS is clinically characterized by a progressive and ultimately fatal multi-system deterioration with involvement of the central nervous system. At present, hematopoietic stem cell transplantation (HSCT) is the only treatment that prevents disease progression in the central nervous system and is therefore considered the treatment of choice in HS. Long-term follow-up of outcomes of HSCT for HS are sparse and risk factors for favorable long-term outcomes are still largely unknown. Therefore, an international multicenter study was initiated to describe the long-term outcomes of successfully transplanted HS patients. Methods: HS-patients transplanted between 1980 and 2007 within the leading transplantation centers in Europe and the United States were include in this study. Patient, donor, and transplantation-related variables which may influence long-term outcome were analyzed. Patients who were ‘alive and engrafted (donor-chimerism >10%)’ with a follow up of at least three years after HSCT were included. The functional outcomes assessed for the various organ systems - orthopedic, cardiac, ophthalmologic, respiratory and audiologic - were analyzed using multivariate Cox proportional hazards and logistic regression models. Results: 197 Hurler patients were included from 8 different transplant centers. This is estimated to be about 70–80% of the successfully transplanted HS patients worldwide during that time period. These patients had a median age of 16 (2–80) months at HSCT with a median follow up of 88 (36–258) months after successful HSCT. Seventy-nine % of the patients received a graft from an unaffected (non-carrier) donor. Seventy-two % of the patients achieved full (>95%)-donor-chimerism and 28% mixed-chimerism. After HSCT, normal enzyme-levels (EL; according to the local reference range) were found in 75% of the patients while 25% had EL below lower limit of normal; either due to mixed-chimerism or carrier-donorship). Multivariate analyses (table 1) showed having a “normal EL” after HSCT and younger (below the median age of 16mths) “age at transplantation” were associated with less serious orthopedic complications requiring surgical interventions; e.g. cord compression, genu-valgum surgery, carpal tunnel surgery. Genotype (double non-sense vs. any other genotype) was associated with a lower probability of requiring hip dysplasia surgery as well as with the occurrence of retinopathy. For other endpoints; e.g progression valve insufficiency, progression corneal clouding and development of retinopathy and the need for hearing aids having a normal EL as well as age at HSCT (<16mths) were predictors for better outcome. Furthermore, growth at the age of 60mths was influenced by EL (−1.93 SDS vs. −1,09 SDS; p=0.042). Conclusion: The long-term outcome of clinical manifestations in HS-patients after successful HSCT is promising although residual disease burden remains. Predictors, favorably influencing the long-term outcomes are suggested to be 1) enzyme level (normal vs. below LLN) after HSCT, 2) genotype and 3) age at HSCT. Achieving normal enzyme levels at an early age might significantly impact the prognosis of Hurler syndrome patients. Newborn screening (resulting in early HSCT), the use of non-carrier donors and achieving full-donor chimerism may be crucial in optimizing long-term outcomes. Disclosures: No relevant conflicts of interest to declare.

Sign in / Sign up

Export Citation Format

Share Document