scholarly journals Unmet needs and evolving treatment for limb girdle muscular dystrophies

2021 ◽  
Author(s):  
Eric Pozsgai ◽  
Danielle Griffin ◽  
Rachael Potter ◽  
Zarife Sahenk ◽  
Kelly Lehman ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Clinical Trials ◽  
Experimental Studies ◽  
Muscular Dystrophies ◽  
Muscle Disorders ◽  
Autosomal Recessive Disorders ◽  
Recessive Disorders ◽  
Single Dosing ◽  
Made In

Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders. Treatment is sorely needed and currently expanding based on safety and efficacy adopting principles of single-dosing gene therapy for monogenic autosomal recessive disorders. Gene therapy has made in-roads for LGMD and this review describes progress that has been achieved for these conditions. This review first provides a background on the definition and classification of LGMDs. The major effort focuses on progress in LGMD gene therapy, from experimental studies to clinical trials. The disorders discussed include the LGMDs where the most work has been done including calpainopathies (LGMD2A/R1), dysferlinopathies (LGMD2B/R2) and sarcoglycanopathies (LGMD2C/R5, LGMD2D/R3, LGMD2E/R4). Early success in clinical trials provides a template to move the field forward and potentially apply emerging technology like CRISPR/Cas9 that may enhance the scope and efficacy of gene therapy applied to patient care.

scholarly journals Progress and prospects of gene therapy clinical trials for the muscular dystrophies

2015 ◽  
Vol 25 (R1) ◽  
pp. R9-R17 ◽  
Author(s):  
Niclas E. Bengtsson ◽  
Jane T. Seto ◽  
John K. Hall ◽  
Jeffrey S. Chamberlain ◽  
Guy L. Odom
Keyword(s):  
Gene Therapy ◽  
Clinical Trials ◽  
Muscular Dystrophies

Global Impact of Danish Headache Research

Cephalalgia ◽  
2001 ◽  
Vol 21 (7) ◽  
pp. 753-756
Author(s):  
JW Lance
Keyword(s):  
Clinical Trials ◽  
Global Impact ◽  
The Past ◽  
Ihs Classification ◽  
Made In

Over the past 40 years, Denmark has established a world reputation for the comprehensive nature and excellence of its headache research. Advances have been made in epidemiology, genetics, pathophysiology and treatment across the whole spectrum of headache entities. Moreover, the IHS classification of headache, the guidelines for clinical trials and text books on the basic mechanisms and management of headaches were initiated from Denmark. These achievements are a tribute to all those who have participated and to the continuing leadership of Jes Olesen.

scholarly journals Muscular Dystrophies

2020 ◽  
Vol 11 (2) ◽  
Author(s):  
Sathasivam S
Keyword(s):  
Clinical Features ◽  
Neuromuscular Disorders ◽  
Management Strategies ◽  
Muscular Dystrophies ◽  
Made In

Huge strides have been made in the last two decades in our understanding of muscular dystrophies. This has led to better classification of this group of heterogeneous neuromuscular disorders based on clinical features, investigation results, and molecular and genetic pathophysiology. This review aims to discuss the major forms of muscular dystrophies, the useful investigations to diagnose them and the management strategies available at present.

scholarly journals Classification of Uniparental Isodisomy Patterns That Cause Autosomal Recessive Disorders: Proposed Mechanisms of Different Proportions and Parental Origin in Each Pattern

2018 ◽  
Vol 154 (3) ◽  
pp. 137-146 ◽  
Author(s):  
Yo Niida ◽  
Mamoru Ozaki ◽  
Masaki Shimizu ◽  
Kazuyuki Ueno ◽  
Tomomi Tanaka
Keyword(s):  
Autosomal Recessive ◽  
Case Reports ◽  
Parental Origin ◽  
Maternal Origin ◽  
Autosomal Recessive Disorders ◽  
Starting Point ◽  
Uniparental Isodisomy ◽  
Heterozygous Carriers ◽  
Recessive Disorders

Patients with autosomal recessive (AR) disorders are usually born to parents both of whom are heterozygous carriers of the disease. However, in some instances only one of the parents is a carrier and a mutation is segregated to the patient through uniparental isodisomy (UPiD). Recently, an increasing number of such case reports has been published, and it has become clear that there are several different UPiD patterns that cause AR disorders. In this article, we report 3 remarkable patients with different patterns of UPiD. We then review 85 cases collected in the literature. We realized that they can be classified into 3 patterns: UPiD of the whole chromosome, segmental UPiD with uniparental heterodisomy (UPhD), and segmental UPiD caused by post-zygotic mitotic recombination (MiRe). Whole chromosomal UPiD accounted for the majority of cases, with paternal origin accounting for approximately twice as many cases as maternal origin. Most cases of segmental UPiD with UPhD were of maternal origin, with a dominancy of nondisjunction in meiosis I, while segmental UPiD through MiRe is the smallest pattern with equal parental origin. These differences in proportion and parental origin in each pattern can be explained by considering nondisjunction during oogenesis as the starting point and UPiD as subsequent events.

CLINICAL TRIAL IN INDIA: RISE AND FALL

2015 ◽  
Vol 3 (1) ◽  
pp. 1-13
Author(s):  
Chitral Kulshreshtha ◽  
M P Venkatesh ◽  
K Shrisha ◽  
Pramod T.M. Kumar ◽  
Pramod T.M. Kumar
Keyword(s):  
Clinical Trial ◽  
Gene Therapy ◽  
Clinical Trials ◽  
Blood Product ◽  
New Drugs ◽  
Human Beings ◽  
Clinical Trial Application ◽  
Human Volunteers ◽  
Or Gene ◽  
Made In

Fight with the disease is the ever evolving frontier for human beings. Discovery of new drugs and devices throughclinical research are the armory to help in the fight with the affliction of mankind. Clinical trials, test potentialtreatments in human volunteers to see whether they should be approved for wider use in the general population. Atreatment could be a drug, medical device, or biologic, such as a vaccine, blood product, or gene therapy. India stoodas a global hub for clinical trials in past years. Later, the amendments made in Indian regulations paved for the declineof clinical trials. The aim of this article is to provide the details about the Indian clinical trial application filingprocess, the amendments made in its regulations and the challenges faced by Indian clinical trial industry. 

scholarly journals Research Trends in Hair-related Dissertations over the Past Decade - Focused on papers published in 2011~2020 -

2021 ◽  
Vol 27 (5) ◽  
pp. 1196-1205
Author(s):  
Ho-Jin Lee ◽  
Young-Hee Noh
Keyword(s):  
Clinical Trials ◽  
Academic Research ◽  
Experimental Studies ◽  
Information Service ◽  
Research Trends ◽  
Research Information ◽  
Research Papers ◽  
The Past ◽  
Master's Thesis

In this study, we will analyze academic research trends over the past 10 years in line with the development and education of the beauty industry and provide direction and basic data for future especially hair research. It was limited to master's and doctorate papers registered in the Research Information Service System (RISS) in March 2021 among beauty and beauty research papers published in 2011 and 2020. The keyword (Keyword) was categorized by hair, makeup, skin, and nail majors that can currently obtain a national technical certificate, and 2,878 were first searched. The research was conducted three times a week on March 8, 15, and March 22, 2021, with no difference in search results. The analysis of the papers studied was conducted for four months from March 2021 to June 2021. There were 1,558 skin-related thesis (54.1%), 610 hair-related thesis (21.2%), 379 makeup-related thesis (13.2%), and 331 nail-related thesis (11.5%). Among them, the distribution of hair-related thesis found to be 518 masters and 92 doctors. Looking at the topic of master's thesis, hair behaviors 217 (41.8%), hair design 208 (40.1%). doctor's thesis by topic, hair behaviors 39 (44.3%), hair design 29 (32.2%). According to a survey of research methods, 255 surveys (49.2%), 138 literature studies (26.6%), and 80 works (15.4%). The Ph.D. thesis showed 41 surveys (45.6%), 24 works (26.7%) and 9 literature studies (10%). In addition, 278 of the master's thesis were surveyed and 177 (63.7%) for consumers and 83 (29.9%) for workers. According to the classification of 47 doctoral thesis, 25consumers (53.2%) and 17 workers (36.2%). According to a survey of 34 master's experimental studies, 21 clinical trials (61.8%), 13 non-clinical trials (38.2%), 14 doctoral experimental studies (35.7%), and 9 non-clinical trials (64.3%). In the future, the scope of analysis will be expanded to major fields such as skin, makeup, and nails, and academic papers as well as academic papers will be required to be analyzed. Furthermore, it is possible to conduct a more diverse and objective analysis of research trends in the beauty field if research trends at home and abroad are grasped.

scholarly journals Genetic targeting for cardiovascular therapeutics: are we near the summit or just beginning the climb?

2001 ◽  
Vol 7 (2) ◽  
pp. 79-94 ◽  
Author(s):  
SHARON C. FRANCIS ◽  
MOHAN K. RAIZADA ◽  
ABEEL A. MANGI ◽  
LUIS G. MELO ◽  
VICTOR J. DZAU ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Gene Therapy ◽  
Clinical Trials ◽  
Cardiovascular Diseases ◽  
Animal Models ◽  
Neointimal Hyperplasia ◽  
Experimental Studies ◽  
Current Status ◽  
No Production ◽  
Genetic Targeting

This article is based on an Experimental Biology symposium held in April 2001 and presents the current status of gene therapy for cardiovascular diseases in experimental studies and clinical trials. Evidence for the use of gene therapy to limit neointimal hyperplasia and confer myocardial protection was presented, and it was found that augmenting local nitric oxide (NO) production using gene transfer (GT) of NO synthase or interruption of cell cycle progression through a genetic transfer of cell cycle regulatory genes limited vascular smooth muscle hyperplasia in animal models and infra-inguinal bypass patients. The results of application of vascular endothelial growth factor (VEGF) GT strategies for therapeutic angiogenesis in critical limb and myocardial ischemia in pilot clinical trials was reviewed. In addition, experimental evidence was presented that genetic manipulation of peptide systems (i.e., the renin-angiotensin II system and the kallikrein-kinin system) was effective in the treatment of systemic cardiovascular diseases such as hypertension, heart failure, and renal failure. Although, as of yet, there are no well controlled human trials proving the clinical benefits of gene therapy for cardiovascular diseases, the data presented here in animal models and in human subjects show that genetic targeting is a promising and encouraging modality, not only for the treatment and long-term control of cardiovascular diseases, but for their prevention as well.

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