Nicol C Voermans1, Olivier Benveniste2, Monique C Minnema2, Henk Lokhorst2, Martin Lammens2, Wouter Meersseman2, Michel Delforge2, Thierry Kuntzer2, Jan Novy2, Thomas Pabst2, Françoise Bouhour2, Norma Romero2, Veronique Leblond2, Peter van den Bergh2, Marie-Christiane Vekemans2, Baziel G van Engelen2, Bruno Eymard2. 1. From the Departments of Neurology (N.C.V., B.G.v.E.) and Pathology (M.L.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Internal Medicine (O.B.), Hôpital Pitié Salpêtrière, UPMC, U974, DHU I2B, Paris, France; Department of Hematology (M.C.M., H.L.), University Medical Center Utrecht, the Netherlands; Department of Pathology (M.L.), Antwerp University Hospital, University of Antwerp, Edegem; Departments of Internal Medicine (W.M.) and Hematology (M.D.), University Hospital Leuven, Belgium; Neurology Service (T.K., J.N.), Lausanne University Hospital CHUV, Lausanne; Department of Medical Oncology (T.P.), University Hospital Bern, Switzerland; Electromyography and Neuromuscular Pathologies Department Lyon Est (F.B.), Bron Hospitals, France; Departments of Pathology (N.R.) and Neurology (B.E.), Hôpital Pitié Salpêtrière, Myology Institute, Paris; Department of Hematology (V.L., P.v.d.B.), Hôpital Pitié Salpêtrière, UPMC Univ Paris 6 GRC 11 GRECHY, Paris, France; Neuromuscular Reference Centre, Department of Neurology (V.L., P.v.d.B.), and Department of Hematology (M.C.V.), Cliniques Universitaires Saint-Luc, University of Louvain, Brussels, Belgium. nicol.voermans@radboudumc.nl. 2. From the Departments of Neurology (N.C.V., B.G.v.E.) and Pathology (M.L.), Radboud University Medical Centre, Nijmegen, the Netherlands; Department of Internal Medicine (O.B.), Hôpital Pitié Salpêtrière, UPMC, U974, DHU I2B, Paris, France; Department of Hematology (M.C.M., H.L.), University Medical Center Utrecht, the Netherlands; Department of Pathology (M.L.), Antwerp University Hospital, University of Antwerp, Edegem; Departments of Internal Medicine (W.M.) and Hematology (M.D.), University Hospital Leuven, Belgium; Neurology Service (T.K., J.N.), Lausanne University Hospital CHUV, Lausanne; Department of Medical Oncology (T.P.), University Hospital Bern, Switzerland; Electromyography and Neuromuscular Pathologies Department Lyon Est (F.B.), Bron Hospitals, France; Departments of Pathology (N.R.) and Neurology (B.E.), Hôpital Pitié Salpêtrière, Myology Institute, Paris; Department of Hematology (V.L., P.v.d.B.), Hôpital Pitié Salpêtrière, UPMC Univ Paris 6 GRC 11 GRECHY, Paris, France; Neuromuscular Reference Centre, Department of Neurology (V.L., P.v.d.B.), and Department of Hematology (M.C.V.), Cliniques Universitaires Saint-Luc, University of Louvain, Brussels, Belgium.
Abstract
OBJECTIVE: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. If associated with a monoclonal gammopathy of unknown significance (MGUS), the outcome is unfavorable: the majority of these patients die within 1 to 5 years of respiratory failure. This study aims to qualitatively assess the long-term treatment effect of high-dose melphalan (HDM) followed by autologous stem cell transplantation (SCT) in a series of 8 patients with SLONM-MGUS. METHODS: We performed a retrospective case series study (n = 8) on the long-term (1-8 years) treatment effect of HDM followed by autologous SCT (HDM-SCT) on survival, muscle strength, and functional capacities. RESULTS: Seven patients showed a lasting moderate-good clinical response, 2 of them after the second HDM-SCT. All of them had a complete, a very good partial, or a partial hematologic response. One patient showed no clinical or hematologic response and died. CONCLUSIONS: This case series shows the positive effect of HDM-SCT in this rare disorder. Factors that may portend an unfavorable outcome are a long disease course before the hematologic treatment and a poor hematologic response. Age at onset, level and type of M protein (κ vs λ), and severity of muscle weakness were not associated with a specific outcome. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that for patients with SLONM-MGUS, HDM-SCT increases the probability of survival and functional improvement.
OBJECTIVE: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. If associated with a monoclonal gammopathy of unknown significance (MGUS), the outcome is unfavorable: the majority of these patients die within 1 to 5 years of respiratory failure. This study aims to qualitatively assess the long-term treatment effect of high-dose melphalan (HDM) followed by autologous stem cell transplantation (SCT) in a series of 8 patients with SLONM-MGUS. METHODS: We performed a retrospective case series study (n = 8) on the long-term (1-8 years) treatment effect of HDM followed by autologous SCT (HDM-SCT) on survival, muscle strength, and functional capacities. RESULTS: Seven patients showed a lasting moderate-good clinical response, 2 of them after the second HDM-SCT. All of them had a complete, a very good partial, or a partial hematologic response. One patient showed no clinical or hematologic response and died. CONCLUSIONS: This case series shows the positive effect of HDM-SCT in this rare disorder. Factors that may portend an unfavorable outcome are a long disease course before the hematologic treatment and a poor hematologic response. Age at onset, level and type of M protein (κ vs λ), and severity of muscle weakness were not associated with a specific outcome. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that for patients with SLONM-MGUS, HDM-SCT increases the probability of survival and functional improvement.
Authors: Lukas J Schnitzler; Tobias Schreckenbach; Aleksandra Nadaj-Pakleza; Werner Stenzel; Elisabeth J Rushing; Philip Van Damme; Andreas Ferbert; Susanne Petri; Christian Hartmann; Antje Bornemann; Andreas Meisel; Jens A Petersen; Thomas Tousseyn; Dietmar R Thal; Jens Reimann; Peter De Jonghe; Jean-Jacques Martin; Peter Y Van den Bergh; Jörg B Schulz; Joachim Weis; Kristl G Claeys Journal: Orphanet J Rare Dis Date: 2017-05-11 Impact factor: 4.123