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  1. Article ; Online: Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care.

    Henderson, Marian L / Zieba, Jacob K / Li, Xiaopeng / Campbell, Daniel B / Williams, Michael R / Vogt, Daniel L / Bupp, Caleb P / Edgerly, Yvonne M / Rajasekaran, Surender / Hartog, Nicholas L / Prokop, Jeremy W / Krueger, Jena M

    Biotech (Basel (Switzerland))

    2024  Volume 13, Issue 1

    Abstract: Gene therapy holds promise as a life-changing option for individuals with genetic variants that give rise to disease. FDA-approved gene therapies for Spinal Muscular Atrophy (SMA), cerebral adrenoleukodystrophy, β-Thalassemia, hemophilia A/B, retinal ... ...

    Abstract Gene therapy holds promise as a life-changing option for individuals with genetic variants that give rise to disease. FDA-approved gene therapies for Spinal Muscular Atrophy (SMA), cerebral adrenoleukodystrophy, β-Thalassemia, hemophilia A/B, retinal dystrophy, and Duchenne Muscular Dystrophy have generated buzz around the ability to change the course of genetic syndromes. However, this excitement risks over-expansion into areas of genetic disease that may not fit the current state of gene therapy. While in situ (targeted to an area) and ex vivo (removal of cells, delivery, and administration of cells) approaches show promise, they have a limited target ability. Broader in vivo gene therapy trials have shown various continued challenges, including immune response, use of immune suppressants correlating to secondary infections, unknown outcomes of overexpression, and challenges in driving tissue-specific corrections. Viral delivery systems can be associated with adverse outcomes such as hepatotoxicity and lethality if uncontrolled. In some cases, these risks are far outweighed by the potentially lethal syndromes for which these systems are being developed. Therefore, it is critical to evaluate the field of genetic diseases to perform cost-benefit analyses for gene therapy. In this work, we present the current state while setting forth tools and resources to guide informed directions to avoid foreseeable issues in gene therapy that could prevent the field from continued success.
    Language English
    Publishing date 2024-01-03
    Publishing country Switzerland
    Document type Journal Article ; Review
    ISSN 2673-6284
    ISSN (online) 2673-6284
    DOI 10.3390/biotech13010001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Remission of Childhood-onset Epilepsy.

    Krueger, Jena M / Nordli, Douglas R

    Pediatric neurology briefs

    2016  Volume 29, Issue 1, Page(s) 4

    Abstract: Investigators from the Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago IL and the Yale School of Medicine, New Haven, CT have conducted a prospective cohort study of 613 children with newly diagnosed epilepsy to evaluate the occurrence of ...

    Abstract Investigators from the Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago IL and the Yale School of Medicine, New Haven, CT have conducted a prospective cohort study of 613 children with newly diagnosed epilepsy to evaluate the occurrence of complete remission and predictive factors. Of the 613 patients recruited, 516 were followed for greater than 10 years and of those, 328 (63.5%) attained complete remission.
    Language English
    Publishing date 2016-02-22
    Publishing country United States
    Document type Journal Article
    ISSN 1043-3155
    ISSN 1043-3155
    DOI 10.15844/pedneurbriefs-29-1-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Ketone Bodies Mediate Antiseizure Effects.

    Krueger, Jena M / Nordli, Douglas R

    Pediatric neurology briefs

    2016  Volume 29, Issue 9, Page(s) 67

    Abstract: Investigators from The Barrow Neurological Institute, Creighton University, University of Kentucky and the University of Calgary Faculty of Medicine investigated the effect of ketone bodies and the ketogenic diet on epileptic Kcna1-null mice. ...

    Abstract Investigators from The Barrow Neurological Institute, Creighton University, University of Kentucky and the University of Calgary Faculty of Medicine investigated the effect of ketone bodies and the ketogenic diet on epileptic Kcna1-null mice.
    Language English
    Publishing date 2016-02-22
    Publishing country United States
    Document type Journal Article
    ISSN 1043-3155
    ISSN 1043-3155
    DOI 10.15844/pedneurbriefs-29-9-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.

    Strauss, Kevin A / Farrar, Michelle A / Muntoni, Francesco / Saito, Kayoko / Mendell, Jerry R / Servais, Laurent / McMillan, Hugh J / Finkel, Richard S / Swoboda, Kathryn J / Kwon, Jennifer M / Zaidman, Craig M / Chiriboga, Claudia A / Iannaccone, Susan T / Krueger, Jena M / Parsons, Julie A / Shieh, Perry B / Kavanagh, Sarah / Wigderson, Melissa / Tauscher-Wisniewski, Sitra /
    McGill, Bryan E / Macek, Thomas A

    Nature medicine

    2022  Volume 28, Issue 7, Page(s) 1390–1397

    Abstract: Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT ( NCT03505099 ), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for ... ...

    Abstract Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT ( NCT03505099 ), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated within six postnatal weeks. Of 15 children with three SMN2 copies treated before symptom onset, all stood independently before 24 months (P < 0.0001; 14 within normal developmental window), and 14 walked independently (P < 0.0001; 11 within normal developmental window). All survived without permanent ventilation at 14 months; ten (67%) maintained body weight (≥3rd WHO percentile) without feeding support through 24 months; and none required nutritional or respiratory support. No serious adverse events were considered treatment-related by the investigator. Onasemnogene abeparvovec was effective and well-tolerated for presymptomatic infants at risk of SMA type 2, underscoring the urgency of early identification and intervention.
    MeSH term(s) Child ; Humans ; Infant ; Muscular Atrophy, Spinal/genetics ; Spinal Muscular Atrophies of Childhood/genetics ; Spinal Muscular Atrophies of Childhood/therapy ; Survival of Motor Neuron 2 Protein/genetics
    Chemical Substances SMN2 protein, human ; Survival of Motor Neuron 2 Protein ; Zolgensma
    Language English
    Publishing date 2022-06-17
    Publishing country United States
    Document type Clinical Trial, Phase III ; Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 1220066-9
    ISSN 1546-170X ; 1078-8956
    ISSN (online) 1546-170X
    ISSN 1078-8956
    DOI 10.1038/s41591-022-01867-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4212: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  5. Article ; Online: Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.

    Strauss, Kevin A / Farrar, Michelle A / Muntoni, Francesco / Saito, Kayoko / Mendell, Jerry R / Servais, Laurent / McMillan, Hugh J / Finkel, Richard S / Swoboda, Kathryn J / Kwon, Jennifer M / Zaidman, Craig M / Chiriboga, Claudia A / Iannaccone, Susan T / Krueger, Jena M / Parsons, Julie A / Shieh, Perry B / Kavanagh, Sarah / Tauscher-Wisniewski, Sitra / McGill, Bryan E /
    Macek, Thomas A

    Nature medicine

    2022  Volume 28, Issue 7, Page(s) 1381–1389

    Abstract: SPR1NT ( NCT03505099 ) was a Phase III, multicenter, single-arm study to investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated at ≤6 weeks of life. Here, we report final results ... ...

    Abstract SPR1NT ( NCT03505099 ) was a Phase III, multicenter, single-arm study to investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated at ≤6 weeks of life. Here, we report final results for 14 children with two copies of SMN2, expected to develop spinal muscular atrophy (SMA) type 1. Efficacy was compared with a matched Pediatric Neuromuscular Clinical Research natural-history cohort (n = 23). All 14 enrolled infants sat independently for ≥30 seconds at any visit ≤18 months (Bayley-III item #26; P < 0.001; 11 within the normal developmental window). All survived without permanent ventilation at 14 months as per protocol; 13 maintained body weight (≥3rd WHO percentile) through 18 months. No child used nutritional or respiratory support. No serious adverse events were considered related to treatment by the investigator. Onasemnogene abeparvovec was effective and well-tolerated for children expected to develop SMA type 1, highlighting the urgency for universal newborn screening.
    MeSH term(s) Child ; Humans ; Infant ; Infant, Newborn ; Muscular Atrophy, Spinal/drug therapy ; Muscular Atrophy, Spinal/genetics ; Neonatal Screening ; Spinal Muscular Atrophies of Childhood/drug therapy ; Spinal Muscular Atrophies of Childhood/genetics ; Survival of Motor Neuron 2 Protein/genetics
    Chemical Substances SMN2 protein, human ; Survival of Motor Neuron 2 Protein
    Language English
    Publishing date 2022-06-17
    Publishing country United States
    Document type Clinical Trial, Phase III ; Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 1220066-9
    ISSN 1546-170X ; 1078-8956
    ISSN (online) 1546-170X
    ISSN 1078-8956
    DOI 10.1038/s41591-022-01866-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4212: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
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    Zs.MG 39: Show issues

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  6. Article ; Online: A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male.

    Krueger, Jena M / Piantino, Juan / Smith, Craig M / Angle, Brad / Venkatesan, Charu / Wainwright, Mark S

    Pediatrics

    2015  Volume 135, Issue 1, Page(s) e202–6

    Abstract: Neurologic regression in a previously healthy child may be caused by metabolic or neurodegenerative disorders, many of which have no definitive treatment. We report a case of a previously healthy 8-year-old boy who presented with a month-long history of ... ...

    Abstract Neurologic regression in a previously healthy child may be caused by metabolic or neurodegenerative disorders, many of which have no definitive treatment. We report a case of a previously healthy 8-year-old boy who presented with a month-long history of waxing and waning encephalopathy and acute regression, followed by seizures. Evaluation for a metabolic disorder revealed methylmalonic acidemia and hyperhomocysteinemia of the cobalamin C type due to a single, presumed homozygous pathogenic c.394 C>T mutation in the MMACHC gene. With the appropriate diet restrictions and vitamin replacement, he improved significantly and returned to his premorbid level of behavior. This case illustrates an unusual presentation of a treatable metabolic disorder and highlights the need to consider cobalamin defects in the differential diagnosis of healthy children with neurologic regression.
    MeSH term(s) Brain Diseases, Metabolic/etiology ; Brain Diseases, Metabolic/therapy ; Child ; Humans ; Male ; Vitamin B 12 Deficiency/complications
    Language English
    Publishing date 2015-01
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 207677-9
    ISSN 1098-4275 ; 0031-4005
    ISSN (online) 1098-4275
    ISSN 0031-4005
    DOI 10.1542/peds.2013-1427
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Um IV Zs.131: Show issues Location:
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    Zs.MO 357: Show issues

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  7. Article ; Online: Epilepsy Following Neonatal Seizures Secondary to Hemorrhagic Stroke in Term Neonates.

    Venkatesan, Charu / Millichap, John J / Krueger, Jena M / Nangia, Srishti / Ritacco, David G / Stack, Cynthia / Nordli, Douglas R

    Journal of child neurology

    2016  Volume 31, Issue 5, Page(s) 547–552

    Abstract: Intracranial hemorrhage accounts for about 50% of all pediatric stroke. Studies of term infants with intracranial hemorrhage have shown favorable motor and cognitive outcome. The goal of this study was to examine the risk of developing epilepsy in full- ... ...

    Abstract Intracranial hemorrhage accounts for about 50% of all pediatric stroke. Studies of term infants with intracranial hemorrhage have shown favorable motor and cognitive outcome. The goal of this study was to examine the risk of developing epilepsy in full-term infants with intracranial hemorrhage. A retrospective study was performed of term neonates (greater than or equal to 37 weeks gestation) with intracranial hemorrhage and confirmed seizures. Fifteen patients with intracranial hemorrhage and neonatal seizures were identified. Four patients did not have follow-up information beyond the neonatal period (1 death, 3 lost to follow-up after initial clinic visit). The average follow-up period for the remaining 11 patients was approximately 22 months. Ten out of the 11 patients (91%) who were followed were seizure-free and off antiepileptic medications. One patient required a ventriculoperitoneal shunt and subsequently developed infantile spasms. The authors found that overall outcome was favorable with respect to development of epilepsy.
    MeSH term(s) Disease Progression ; Electroencephalography ; Epilepsy/diagnosis ; Epilepsy/etiology ; Female ; Gestational Age ; Humans ; Infant ; Intracranial Hemorrhages/complications ; Magnetic Resonance Imaging ; Male ; Retrospective Studies ; Stroke/complications ; Stroke/etiology
    Language English
    Publishing date 2016-04
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 639288-x
    ISSN 1708-8283 ; 0883-0738
    ISSN (online) 1708-8283
    ISSN 0883-0738
    DOI 10.1177/0883073815600864
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2301: Show issues Location:
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