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Gene therapy for infantile malignant osteopetrosis: review of pre-clinical research and proof-of-concept for phenotypic reversal.

ABSTRACT: Infantile malignant osteopetrosis is a devastating disorder of early childhood that is frequently fatal and for which there are only limited therapeutic options. Gene therapy utilizing autologous hematopoietic stem and progenitor cells represents a potentially advantageous therapeutic alternative for this multisystemic disease. Gene therapy can be performed relatively rapidly following diagnosis, will not result in graft versus host disease, and may also have potential for reduced incidences of other transplant-related complications. In this review, we have summarized the past sixteen years of research aimed at developing a gene therapy for infantile malignant osteopetrosis; these efforts have culminated in the first clinical trial employing lentiviral-mediated delivery of TCIRG1 in autologous hematopoietic stem and progenitor cells.

SUBMITTER: Moscatelli I

PROVIDER: S-EPMC7848732 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature

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Gene therapy for infantile malignant osteopetrosis: review of pre-clinical research and proof-of-concept for phenotypic reversal.

Moscatelli Ilana I Almarza Elena E Schambach Axel A Ricks David D Schulz Ansgar A Herzog Christopher D CD Henriksen Kim K Askmyr Maria M Schwartz Jonathan D JD Richter Johan J

Molecular therapy. Methods & clinical development 20201225

Infantile malignant osteopetrosis is a devastating disorder of early childhood that is frequently fatal and for which there are only limited therapeutic options. Gene therapy utilizing autologous hematopoietic stem and progenitor cells represents a potentially advantageous therapeutic alternative for this multisystemic disease. Gene therapy can be performed relatively rapidly following diagnosis, will not result in graft versus host disease, and may also have potential for reduced incidences of ...[more]

PMID: 33575431

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Project description:BackgroundPostoperative recovery after abdominal surgery is measured mostly based on subjective or self-reported data. In this article we aim to evaluate whether recovery of daily physical activity levels can be measured postoperatively with the use of an accelerometer.MethodsIn this multicenter, observational pilot study, 30 patients undergoing laparoscopic abdominal surgery (hysterectomy, adnexal surgery, cholecystectomy and hernia inguinal surgery) were included. Patients were instructed to wear an Actigraph wGT3X-BT accelerometer during one week before surgery (baseline) and during the first, third and fifth week after surgery. Wear time, steps taken and physical activity intensity levels (sedentary, light, moderate and vigorous) were measured. Patients were blinded for the accelerometer outcomes. Additionally, an activity diary comprising patients' self-reported time of being recovered and a list of 18 activities, in which the dates of resumption of these 18 activities were recorded after surgery, was completed by the patient.ResultsFive patients were excluded from analyses because of technical problems with the accelerometer (n = 1) and protocol non-adherence (n = 4). Light, moderate, vigorous, combined moderate and vigorous intensity physical activity (MVPA), and step counts showed a clear recovery curve after surgery. Patients who underwent minor surgery reached their baseline step count and MVPA three weeks after surgery. Patients who underwent intermediate surgery had not yet reached their baseline step count during the last measuring week (five weeks after surgery). The results of the activity diaries showed a fair agreement with the accelerometer results (Cohens Kappa range: 0.273-0.391). Wearing the accelerometer was well tolerated and not regarded as being burdensome by the patients.ConclusionsThe accelerometer appeared to be a feasible way to measure recovery of postoperative physical activity levels in this study and was well tolerated by the patients. The agreement with self-reported physical recovery times was fair.

Dataset Information

Gene therapy for infantile malignant osteopetrosis: review of pre-clinical research and proof-of-concept for phenotypic reversal.

Publications

Gene therapy for infantile malignant osteopetrosis: review of pre-clinical research and proof-of-concept for phenotypic reversal.

Similar Datasets

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