Open Access. Powered by Scholars. Published by Universities.®

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

Open Access. Powered by Scholars. Published by Universities.®

604 Full-Text Articles 2,727 Authors 104,348 Downloads 93 Institutions

All Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Faceted Search

604 full-text articles. Page 2 of 26.

Cornelia De Lange Syndrome Research From 1953 To 2020: A Bibliometric Analysis, Dr. Mirza Muhammad Naseer, Dr. Abu Waris 2021 Assistant Professor, Deanship of Library Affairs, Imam Abdulrahman Bin Faisal University Post Box. No. 1982, Dammam, Saudi Arabia

Cornelia De Lange Syndrome Research From 1953 To 2020: A Bibliometric Analysis, Dr. Mirza Muhammad Naseer, Dr. Abu Waris

Library Philosophy and Practice (e-journal)

The present study was conducted to explore various aspects of Cornelia de Lange Syndrome (CdLS) research publications including annual scientific productivity, top contributing authors and their impact, top contributing countries and organizations, most relevant sources of publication, highly cited documents, and most frequently used words. Bibliometric methods were used to investigate these aspects of CdLS research publications. Results of the study disclosed that the annual scientific productivity of CdLS literature is increasing gradually with the passage of time. A. Selicorni contributed the highest number of publications (45) to CdLS literature while I. D. Krantz had the highest impact in the ...


Integument: Guidelines For The Care Of People With Spina Bifida, Patricia Beierwaltes, Sharon Munoz, Jennifer Wilhelmy 2020 Minnesota State University, Mankato

Integument: Guidelines For The Care Of People With Spina Bifida, Patricia Beierwaltes, Sharon Munoz, Jennifer Wilhelmy

School of Nursing Faculty Publications

PURPOSE:

Skin-related issues have a significant impact on health, activities of daily living, and quality of life among people with spina bifida. Data presented by select clinics that participate in the National Spina Bifida Patient Registry reported that 26% of individuals had a history of pressure injuries with 19% having had one in the past year. The spina bifida community lack direct guidelines on prevention of these and other skin related issues. The Integument (skin) Guidelines focus on prevention, not treatment, of existing problems.

METHODS:

Using a consensus building methodology, the guidelines were written by experts in spina bifida and ...


Bowel Function And Care - Guidelines For The Care Of People With Spina Bifida, Patricia Beierwaltes, Paige Church, Tiffany Gordon, Lusine Ambartsumyan 2020 Minnesota State University, Mankato

Bowel Function And Care - Guidelines For The Care Of People With Spina Bifida, Patricia Beierwaltes, Paige Church, Tiffany Gordon, Lusine Ambartsumyan

School of Nursing Faculty Publications

PURPOSE:

Bowel dysfunction, such as constipation and fecal incontinence, has a significant impact on health, activities of daily living, and quality of life among people with spina bifida. Secondary complications may result from bowel dysfunction and include urologic dysfunction, loss of skin integrity, shunt (hydrocephalus) function, as well as loss of social opportunities and employability.

METHODS:

Using a consensus building methodology, the guidelines for management of bowel dysfunction in spina bifida were written by experts in the field of spina bifida and bowel function and care.

RESULTS:

The evidence-based guidelines are presented in table format and provide age-specific recommendations to ...


Care Coordination Guidelines For The Care Of People With Spina Bifida, Alexander Van Speybroeck, Patricia Beierwaltes, Betsy Hopson, Suzanne McKee, Lisa Raman, Ravindra Rao, Rebecca Sherlock 2020 University of Southern California

Care Coordination Guidelines For The Care Of People With Spina Bifida, Alexander Van Speybroeck, Patricia Beierwaltes, Betsy Hopson, Suzanne Mckee, Lisa Raman, Ravindra Rao, Rebecca Sherlock

School of Nursing Faculty Publications

Care coordination is the deliberate organization of patient care activities between two or more participants (including the patient) involved in a person’s care to facilitate the appropriate delivery of health care services. Organizing care involves the marshalling of personnel and other resources needed to carry out all required patient care activities. It is often managed by the exchange of information among participants responsible for different aspects of care. With an estimated 85% of individuals with Spina Bifida (SB) surviving to adulthood, SB specific care coordination guidelines are warranted. Care coordination (also described as case management services) is a process ...


Large Genotype-Phenotype Study In Carriers Of D4z4 Borderline Alleles Provides Guidance For Facioscapulohumeral Muscular Dystrophy Diagnosis, Giulia Ricci, Rossella Ginevra Tupler 2020 University of Modena and Reggio Emilia

Large Genotype-Phenotype Study In Carriers Of D4z4 Borderline Alleles Provides Guidance For Facioscapulohumeral Muscular Dystrophy Diagnosis, Giulia Ricci, Rossella Ginevra Tupler

Open Access Publications by UMMS Authors

Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Assessment of size of D4Z4 alleles is commonly used for FSHD diagnosis. However, the extended molecular testing has expanded the spectrum of clinical phenotypes. In particular, D4Z4 alleles with 9-10 repeat have been found in healthy individuals, in subjects with FSHD or affected by other myopathies. These findings weakened the strict relationship between observed phenotypes and their underlying genotypes, complicating the interpretation ...


Natural History Study Of Glycan Accumulation In Large Animal Models Of Gm2 Gangliosidoses, Catlyn Cavender, Linley Mangini, Jeremy L. Van Vleet, Carley Corado, Emma McCullagh, Heather L. Gray-Edwards, Douglas R. Martin, Brett E. Crawford, Roger Lawrence 2020 BioMarin Pharmaceutical Inc.

Natural History Study Of Glycan Accumulation In Large Animal Models Of Gm2 Gangliosidoses, Catlyn Cavender, Linley Mangini, Jeremy L. Van Vleet, Carley Corado, Emma Mccullagh, Heather L. Gray-Edwards, Douglas R. Martin, Brett E. Crawford, Roger Lawrence

Open Access Publications by UMMS Authors

beta-hexosaminidase is an enzyme responsible for the degradation of gangliosides, glycans, and other glycoconjugates containing beta-linked hexosamines that enter the lysosome. GM2 gangliosidoses, such as Tay-Sachs and Sandhoff, are lysosomal storage disorders characterized by beta-hexosaminidase deficiency and subsequent lysosomal accumulation of its substrate metabolites. These two diseases result in neurodegeneration and early mortality in children. A significant difference between these two disorders is the accumulation in Sandhoff disease of soluble oligosaccharide metabolites that derive from N- and O-linked glycans. In this paper we describe our results from a longitudinal biochemical study of a feline model of Sandhoff disease and an ...


Efficacy Of The Nutritional Supplement, Evenflo, In The Management Of Sickle Cell Disease: A Randomized Controlled Trial, Richard Muga, Arthur Ajwang, James Ouma, Josephine Ojigo, Juliana Otieno, Peter Okoth, Caroline Wafula, Sophia Ajwang, David Ogolla, Abraham Hollist, James Adefisoye 2020 School of Clinical Medicine, Uzima University College; County Executive Committee Member for Heath, Home-Bay County

Efficacy Of The Nutritional Supplement, Evenflo, In The Management Of Sickle Cell Disease: A Randomized Controlled Trial, Richard Muga, Arthur Ajwang, James Ouma, Josephine Ojigo, Juliana Otieno, Peter Okoth, Caroline Wafula, Sophia Ajwang, David Ogolla, Abraham Hollist, James Adefisoye

Nursing & Health Sciences Research Journal

Background: In this study, we investigated if a combination of the nutraceutical supplement, EvenFlo and folic acid will be superior to the standard stand-alone use of folic acid.

Methods: We conducted a randomized double-blind, active-controlled, clinical trial. A total of 70 subjects with SCD ages 5-12 years were enrolled into the study with 35 in the intervention group and 35 in the control group; 61 completed the trial (32 from the intervention group and 29 from the control group).

Results: Participants in the intervention group were significantly less likely to experience crises compared to subjects in the control group. None ...


Cytomegalovirus-Specific T Cell Epitope Recognition In Congenital Cytomegalovirus Mother-Infant Pairs, Emma C. Materne, Daniele Lilleri, Francesca Garofoli, Giuseppina Lombardi, Milena Furione, Maurizio Zavattoni, Laura L. Gibson 2020 University of Massachusetts Medical School

Cytomegalovirus-Specific T Cell Epitope Recognition In Congenital Cytomegalovirus Mother-Infant Pairs, Emma C. Materne, Daniele Lilleri, Francesca Garofoli, Giuseppina Lombardi, Milena Furione, Maurizio Zavattoni, Laura L. Gibson

Open Access Publications by UMMS Authors

Background: Congenital cytomegalovirus (cCMV) infection is the most common infection acquired before birth and from which about 20% of infants develop permanent neurodevelopmental effects regardless of presence or absence of symptoms at birth. Viral escape from host immune control may be a mechanism of CMV transmission and infant disease severity. We sought to identify and compare CMV epitopes recognized by mother-infant pairs. We also hypothesized that if immune escape were occurring, then one pattern of longitudinal CD8 T cell responses restricted by shared HLA alleles would be maternal loss (by viral escape) and infant gain (by viral reversion to wildtype ...


Mekk2 Mediates Aberrant Erk Activation In Neurofibromatosis Type I, Seoyeon Bok, Dong Yeon Shin, Alisha R. Yallowitz, Mark Eiseman, Michelle Cung, Ren Xu, Na Li, Jun Sun, Alfred L. Williams, John E. Scott, Bing Su, Jae-Hyuck Shim, Matthew B. Greenblatt 2020 Weill Cornell Medicine

Mekk2 Mediates Aberrant Erk Activation In Neurofibromatosis Type I, Seoyeon Bok, Dong Yeon Shin, Alisha R. Yallowitz, Mark Eiseman, Michelle Cung, Ren Xu, Na Li, Jun Sun, Alfred L. Williams, John E. Scott, Bing Su, Jae-Hyuck Shim, Matthew B. Greenblatt

Open Access Publications by UMMS Authors

Neurofibromatosis type I (NF1) is characterized by prominent skeletal manifestations caused by NF1 loss. While inhibitors of the ERK activating kinases MEK1/2 are promising as a means to treat NF1, the broad blockade of the ERK pathway produced by this strategy is potentially associated with therapy limiting toxicities. Here, we have sought targets offering a more narrow inhibition of ERK activation downstream of NF1 loss in the skeleton, finding that MEKK2 is a novel component of a noncanonical ERK pathway in osteoblasts that mediates aberrant ERK activation after NF1 loss. Accordingly, despite mice with conditional deletion of Nf1 in ...


Managing May-Thurner Syndrome And Associated Complications Throughout Pregnancy And Postpartum, Jessica A. Young, Stephen Zweibach, Nicole L. Plenty, Tiffany Tonismae 2020 HCA Healthcare

Managing May-Thurner Syndrome And Associated Complications Throughout Pregnancy And Postpartum, Jessica A. Young, Stephen Zweibach, Nicole L. Plenty, Tiffany Tonismae

OB-GYN

No abstract provided.


Glutaric Acidemia Type 1: Treatment And Outcome Of 168 Patients Over Three Decades, Kevin A. Strauss 2020 University of Massachusetts Medical School

Glutaric Acidemia Type 1: Treatment And Outcome Of 168 Patients Over Three Decades, Kevin A. Strauss

Open Access Publications by UMMS Authors

Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism resulting from biallelic mutations of GCDH. Without treatment, GA1 causes striatal degeneration in > 80% of affected children before two years of age. We analyzed clinical, biochemical, and developmental outcomes for 168 genotypically diverse GA1 patients managed at a single center over 31 years, here separated into three treatment cohorts: children in Cohort I (n = 60; DOB 2006-2019) were identified by newborn screening (NBS) and treated prospectively using a standardized protocol that included a lysine-free, arginine-enriched metabolic formula, enteral l-carnitine (100 mg/kg*day), and emergency intravenous (IV ...


Early Impact Of The Covid-19 Pandemic On Congenital Heart Surgery Programs Across The World: Assessment By A Global Multi-Societal Consortium., Eleftherios M. Protopapas, Mauro Lo Rito, Vladimiro L. Vida, George E. Sarris, Christo I. Tchervenkov, Bohdan J. Maruszewski, Zdzislaw Tobota, Bistra Zheleva, Hao Zhang, Jeffery P. Jacobs, Joseph A. Dearani, Elizabeth H. Stephens, James S. Tweddell, Nestor F. Sandoval, Emile A. Bacha, Erle H. Austin, Kisaburo Sakamoto, Sachin Talwar, Hiromi Kurosawa, Zohair Y Al Halees, Marcello B. Jatene, Krishna S. Iyer, Cheul Lee, Rajesh Sharma, Yasutaka Hirata, Frank Edwin, Jorge L. Cervantes, James O'Brien, James D. St Louis, James K. Kirklin, COVID-19 International Congenital Heart Surgery Taskforce 2020 Children's Mercy Hospital

Early Impact Of The Covid-19 Pandemic On Congenital Heart Surgery Programs Across The World: Assessment By A Global Multi-Societal Consortium., Eleftherios M. Protopapas, Mauro Lo Rito, Vladimiro L. Vida, George E. Sarris, Christo I. Tchervenkov, Bohdan J. Maruszewski, Zdzislaw Tobota, Bistra Zheleva, Hao Zhang, Jeffery P. Jacobs, Joseph A. Dearani, Elizabeth H. Stephens, James S. Tweddell, Nestor F. Sandoval, Emile A. Bacha, Erle H. Austin, Kisaburo Sakamoto, Sachin Talwar, Hiromi Kurosawa, Zohair Y Al Halees, Marcello B. Jatene, Krishna S. Iyer, Cheul Lee, Rajesh Sharma, Yasutaka Hirata, Frank Edwin, Jorge L. Cervantes, James O'Brien, James D. St Louis, James K. Kirklin, Covid-19 International Congenital Heart Surgery Taskforce

Manuscripts, Articles, Book Chapters and Other Papers

The coronavirus disease 2019 (COVID-19) pandemic currently gripping the globe is impacting the entire health care system with rapidly escalating morbidities and mortality. Although the infectious risk to the pediatric population appears low, the effects on children with congenital heart disease (CHD) remain poorly understood. The closure of congenital heart surgery programs worldwide to address the growing number of infected individuals could have an unintended impact on future health for COVID-19-negative patients with CHD. Pediatric and congenital heart surgeons, given their small numbers and close relationships, are uniquely positioned to collectively assess the impact of the pandemic on surgical practice ...


South Dakota Parents’ Knowledge Of Congenital Cytomegalovirus, Its Long-Term Health Effects, And Methods For Minimizing Exposure, Felicia Reimann, Jessica Messersmith, Hannah Williams, Emily Riley 2020 University of South Dakota

South Dakota Parents’ Knowledge Of Congenital Cytomegalovirus, Its Long-Term Health Effects, And Methods For Minimizing Exposure, Felicia Reimann, Jessica Messersmith, Hannah Williams, Emily Riley

Journal of Early Hearing Detection and Intervention

Congenital CMV (cCMV) is acknowledged as one of the most common causes of nonhereditary sensorineural hearing loss and an important cause of neurodevelopmental delay in children. Despite the danger cCMV poses, many parents are unaware of the virus, its sequelae, mode of transmission, and preventative behaviors. The purpose of the study was to determine South Dakota parents’ knowledge of cCMV, its sequelae, and ways to minimize exposure.

An electronic survey was utilized for data collection. Parents of children born in South Dakota from 2011 to 2018 were asked about their knowledge of CMV and cCMV, including common sequelae and ways ...


Identifying Genetic Factors That Contribute To The Increased Risk Of Congenital Heart Defects In Infants With Down Syndrome., Cristina E. Trevino, Aaron M. Holleman, Holly Corbitt, Cheryl L. Maslen, Tracie C. Rosser, David J. Cutler, H Richard Johnston, Benjamin L. Rambo-Martin, Jai Oberoi, Kenneth J. Dooley, George T. Capone, Roger H. Reeves, Heather J. Cordell, Bernard D. Keavney, A J Agopian, Elizabeth Goldmuntz, Peter J. Gruber, James O'Brien, Douglas C. Bittel, Lalita Wadhwa, Clifford L. Cua, Jennifer G. Mulle, Michael P. Epstein, Stephanie L. Sherman, Michael E. Zwick 2020 Children's Mercy Hospital

Identifying Genetic Factors That Contribute To The Increased Risk Of Congenital Heart Defects In Infants With Down Syndrome., Cristina E. Trevino, Aaron M. Holleman, Holly Corbitt, Cheryl L. Maslen, Tracie C. Rosser, David J. Cutler, H Richard Johnston, Benjamin L. Rambo-Martin, Jai Oberoi, Kenneth J. Dooley, George T. Capone, Roger H. Reeves, Heather J. Cordell, Bernard D. Keavney, A J Agopian, Elizabeth Goldmuntz, Peter J. Gruber, James O'Brien, Douglas C. Bittel, Lalita Wadhwa, Clifford L. Cua, Jennifer G. Mulle, Michael P. Epstein, Stephanie L. Sherman, Michael E. Zwick

Manuscripts, Articles, Book Chapters and Other Papers

Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in individuals with Down syndrome (DS) at a > 2000-fold increased prevalence compared to the general population. This study aimed to identify risk-associated genes and pathways and to examine a potential polygenic contribution to AVSD in DS. We analyzed a total cohort of 702 individuals with DS with or without AVSD, with genomic data from whole exome sequencing, whole genome sequencing, and/or array-based imputation. We utilized sequence kernel association testing and polygenic risk score (PRS) methods to examine rare and common variants. Our findings suggest that the Notch pathway ...


Association Of Damaging Variants In Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease, Sarah U. Morton, Peter E. Newburger, Christine E. Seidman 2020 Harvard Medical School

Association Of Damaging Variants In Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease, Sarah U. Morton, Peter E. Newburger, Christine E. Seidman

Open Access Publications by UMMS Authors

Importance: Patients with congenital heart disease (CHD), the most common birth defect, have increased risks for cancer. Identification of the variables that contribute to cancer risk is essential for recognizing patients with CHD who warrant longitudinal surveillance and early interventions.

Objective: To compare the frequency of damaging variants in cancer risk genes among patients with CHD and control participants and identify associated clinical variables in patients with CHD who have cancer risk variants.

Design, Setting, and Participants: This multicenter case-control study included participants with CHD who had previously been recruited to the Pediatric Cardiac Genomics Consortium based on presence of ...


Serious Neonatal Morbidities Are Associated With Differences In Dna Methylation Among Very Preterm Infants., Todd M. Everson, T Michael O'Shea, Amber Burt, Karen Hermetz, Brian S. Carter, Jennifer Helderman, Julie A. Hofheimer, Elisabeth C. McGowan, Charles R. Neal, Steven L. Pastyrnak, Lynne M. Smith, Antoine Soliman, Sheri A. DellaGrotta, Lynne M. Dansereau, James F. Padbury, Barry M. Lester, Carmen J. Marsit 2020 Children's Mercy Hospital

Serious Neonatal Morbidities Are Associated With Differences In Dna Methylation Among Very Preterm Infants., Todd M. Everson, T Michael O'Shea, Amber Burt, Karen Hermetz, Brian S. Carter, Jennifer Helderman, Julie A. Hofheimer, Elisabeth C. Mcgowan, Charles R. Neal, Steven L. Pastyrnak, Lynne M. Smith, Antoine Soliman, Sheri A. Dellagrotta, Lynne M. Dansereau, James F. Padbury, Barry M. Lester, Carmen J. Marsit

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Infants born very preterm are more likely to experience neonatal morbidities compared to their term peers. Variations in DNA methylation (DNAm) associated with these morbidities may yield novel information about the processes impacted by these morbidities.

METHODS: This study included 532 infants born < 30 weeks gestation, participating in the Neonatal Neurobehavior and Outcomes in Very Preterm Infants study. We used a neonatal morbidity risk score, which was an additive index of the number of morbidities experienced during the NICU stay, including bronchopulmonary dysplasia (BPD), severe brain injury, serious neonatal infections, and severe retinopathy of prematurity. DNA was collected from buccal cells at discharge from the NICU, and DNAm was measured using the Illumina MethylationEPIC. We tested for differential methylation in association with the neonatal morbidity risk score then tested for differentially methylated regions (DMRs) and overrepresentation of biological pathways.

RESULTS: We identified ten differentially methylated CpGs (α Bonferroni-adjusted for 706,278 tests) that were associated with increasing neonatal morbidity risk scores at three intergenic regions and at HPS4, SRRD, FGFR1OP, TNS3, TMEM266, LRRC3B, ZNF780A, and TENM2. These mostly followed dose-response patterns, for 8 CpGs increasing DNAm associated with increased numbers of morbidities, while for 2 ...


Wild-Type Huntingtin Regulates Human Macrophage Function, Grace C. O'Regan, Sahar H. Farag, Gary R. Ostroff, Sarah J. Tabrizi, Ralph Andre 2020 University College London

Wild-Type Huntingtin Regulates Human Macrophage Function, Grace C. O'Regan, Sahar H. Farag, Gary R. Ostroff, Sarah J. Tabrizi, Ralph Andre

Open Access Publications by UMMS Authors

The huntingtin (HTT) protein in its mutant form is the cause of the inherited neurodegenerative disorder, Huntington's disease. Beyond its effects in the central nervous system, disease-associated mutant HTT causes aberrant phenotypes in myeloid-lineage innate immune system cells, namely monocytes and macrophages. Whether the wild-type form of the protein, however, has a role in normal human macrophage function has not been determined. Here, the effects of lowering the expression of wild-type (wt)HTT on the function of primary monocyte-derived macrophages from healthy, non-disease human subjects were examined. This demonstrated a previously undescribed role for wtHTT in maintaining normal macrophage ...


Ribosome Profiling In Mouse Hippocampus: Plasticity-Induced Regulation And Bidirectional Control By Tsc2 And Fmrp, Annie Hien, Gemma Molinaro, Botao Liu, Kimberly M. Huber, Joel D. Richter 2020 University of Massachusetts Medical School

Ribosome Profiling In Mouse Hippocampus: Plasticity-Induced Regulation And Bidirectional Control By Tsc2 And Fmrp, Annie Hien, Gemma Molinaro, Botao Liu, Kimberly M. Huber, Joel D. Richter

Open Access Publications by UMMS Authors

BACKGROUND: Mutations in TSC2 are the most common cause of tuberous sclerosis (TSC), a disorder with a high incidence of autism and intellectual disability. TSC2 regulates mRNA translation required for group 1 metabotropic glutamate receptor-dependent synaptic long-term depression (mGluR-LTD) and behavior, but the identity of mRNAs responsive to mGluR-LTD signaling is largely unknown.

METHODS: We utilized Tsc2(+/-) mice as a mouse model of TSC and prepared hippocampal slices from these animals. We induced mGluR-LTD synaptic plasticity in slices and processed the samples for RNA-seq and ribosome profiling to identify differentially expressed genes in Tsc2(+/-) and following mGluR-LTD synaptic plasticity.

RESULTS ...


Neuroacanthocytosis, Joshua Feriante, Vikas Gupta 2020 University of Massachusetts Medical School

Neuroacanthocytosis, Joshua Feriante, Vikas Gupta

Open Access Publications by UMMS Authors

Neuroacanthocytosis refers to a group of inherited genetic disorders resulting in a combination of misshapen red blood cells (acanthocytes) and progressive neurological decline.[1] The neurological presentation can vary widely among diseases and can include shared characteristic features of movement disorders, neuropathy, psychiatric symptoms, neurocognitive degeneration, and seizures.[2] Specific diseases are many, including chorea-acanthocytosis (ChAc),[3] McLeod syndrome (MLS),[4] Huntington like-disease 2 (HDL2),[5] pantothenate kinase-associated neurodegeneration (PKAN, also known as Hallervorden Spatz disease),[6][7] HARP Syndrome (considered part of the PKAN spectrum consisting of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), abetalipoproteinemia (ABL),[8] hereditary hypobetalipoproteinemia ...


Meta-Analyses Of Ataluren Randomized Controlled Trials In Nonsense Mutation Duchenne Muscular Dystrophy, Craig Campbell, Brenda L. Wong 2020 Western University

Meta-Analyses Of Ataluren Randomized Controlled Trials In Nonsense Mutation Duchenne Muscular Dystrophy, Craig Campbell, Brenda L. Wong

Open Access Publications by UMMS Authors

Aim: Assess the totality of efficacy evidence for ataluren in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD).

Materials and methods: Data from the two completed randomized controlled trials (ClinicalTrials.gov: NCT00592553; NCT01826487) of ataluren in nmDMD were combined to examine the intent-to-treat (ITT) populations and two patient subgroups (baseline 6-min walk distance [6MWD] > /=300- < 400 or < 400 m). Meta-analyses examined 6MWD change from baseline to week 48.

Results: Statistically significant differences in 6MWD change with ataluren versus placebo were observed across all three meta-analyses. Least-squares mean difference (95% CI): ITT (n = 342), +17.2 (0.2-34.1) m, p = 0.0473; >/=300- < 400 m (n = 143), +43.9 (18.2-69.6) m, p = 0.0008; < 400 m (n = 216), +27.7 (6.4-49.0) m, p = 0.0109.

Conclusion: These meta-analyses support previous evidence for ataluren in slowing ...


Digital Commons powered by bepress