Natural history of Tay-Sachs disease in sheep

2021 ◽  
Author(s):  
Brett Story ◽  
Toloo Taghian ◽  
Jillian Gallagher ◽  
Jey Koehler ◽  
Amanda Taylor ◽  
...  
Keyword(s):  
Natural History ◽  
Tay Sachs Disease ◽  
History Of

The Natural History of Late Onset Tay-Sachs Disease

2012 ◽  
Vol 105 (2) ◽  
pp. S67
Author(s):  
Padmaja Yerramilli-Rao ◽  
Ourania Giannikopoulos ◽  
Kim Kublis ◽  
Jessica Pan ◽  
Florian Eichler
Keyword(s):  
Natural History ◽  
Late Onset ◽  
Tay Sachs Disease ◽  
History Of

The Natural History of Late Onset Tay-Sachs Disease (P01.243)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. P01.243-P01.243
Author(s):  
P. Yerramilli-Rao ◽  
O. Giannikopoulos ◽  
K. Kublis ◽  
J. Pan ◽  
F. Eichler
Keyword(s):  
Natural History ◽  
Late Onset ◽  
Tay Sachs Disease ◽  
History Of

scholarly journals First-in-human AAV Gene Therapy for Tay-Sachs Disease

2021 ◽  
Author(s):  
Miguel Sena-Esteves ◽  
Terence Flotte ◽  
Oguz Cataltepe ◽  
Ajit Puri ◽  
Ana Rita Batista ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Natural History ◽  
Post Injection ◽  
Proof Of Concept ◽  
Safety And Efficacy ◽  
Tay Sachs Disease ◽  
Younger Patient ◽  
Hexosaminidase A ◽  
History Of ◽  
Preclinical Work

Abstract Tay-Sachs Disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Preclinical work demonstrated safety and efficacy of CNS gene therapy using AAVrh8-HEXA/HEXB. Here we describe an expanded access trial in two patients with infantile TSD (IND 18225). Case TSD-001 demonstrated neurodevelopmental regression by 8 months of age and severe seizures by 1 year was treated at 30 months. An equimolar mix of AAVrh8-HEXA and AAVrh8-HEXB (now AXO-AAV-GM2) was administered intrathecally (IT), with 75% of the dose (1x1014vg) delivered to the cisterna magna and 25% at the thoraco-lumbar junction. The second patient (TSD-002) was treated at 7 months of age with 4.2x1013 vg by a combination of bilateral thalamic (0.18 mL; 1.5x1012vg per thalamus), and IT infusion (3.9x1013vg). Both patients underwent immunosuppression with sirolimus, corticosteroids, and rituximab. Injection procedures were well tolerated and have shown no vector-related adverse events to date. CSF HexA activity nearly doubled from baseline and remained stable. In TSD-002 (now 16 months of age), MRI showed stabilization of disease by 3 months post-injection and appeared to temporarily deviate from the natural history of infantile TSD but declined again 6 months post-treatment. TSD-001 (now 4.5 years of age remains seizure-free on the same anti-convulsant therapy as pre-therapy, but TSD-002 developed seizures between 13 and 17 months posttreatment (by 2 years of age). Administration of AXO-AAV-GM2 by IT and thalamic injections was safe, HexA activity increased in CSF and ongoing myelination was apparent in the younger patient treated at an early symptomatic stage. This study provides early safety and proof-of-concept in humans for treatment of TSD patients by AAV gene therapy.

How is the moral stance related to the intentional stance and group thinking?

2020 ◽  
Vol 43 ◽  
Author(s):  
Hannes Rakoczy
Keyword(s):  
Natural History ◽  
Social Cognitive ◽  
Intentional Stance ◽  
Cognitive Capacities ◽  
Shared Intentionality ◽  
History Of ◽  
Group Thinking ◽  
Moral Stance

Abstract The natural history of our moral stance told here in this commentary reveals the close nexus of morality and basic social-cognitive capacities. Big mysteries about morality thus transform into smaller and more manageable ones. Here, I raise questions regarding the conceptual, ontogenetic, and evolutionary relations of the moral stance to the intentional and group stances and to shared intentionality.

Natural history of helicobacter pylori infection from infancy to adulthood: A 21-year follow-up cohort study

2001 ◽  
Vol 120 (5) ◽  
pp. A128-A128 ◽  
Author(s):  
H MALATY ◽  
D GRAHAM ◽  
A ELKASABANY ◽  
S REDDY ◽  
S SRINIVASAN ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Cohort Study ◽  
Natural History ◽  
Helicobacter Pylori Infection ◽  
History Of

Incidence and natural history of HCV infection in Northern Italy: Results of an epidemiological study

2001 ◽  
Vol 120 (5) ◽  
pp. A366-A366
Author(s):  
C MAZZEO ◽  
F AZZAROLI ◽  
A COLECCHIA ◽  
S DISILVIO ◽  
A DORMI ◽  
...  
Keyword(s):  
Natural History ◽  
Epidemiological Study ◽  
Northern Italy ◽  
Hcv Infection ◽  
History Of

232: Natural History of Treated Biochemical Recurrence after Radical Prostatectomy for Prostate Cancer

2007 ◽  
Vol 177 (4S) ◽  
pp. 77-78
Author(s):  
Christopher R. Porter ◽  
Jochen Walz ◽  
Andrea Gallina ◽  
Claudio Jeldres ◽  
Koichi Kodama ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Radical Prostatectomy ◽  
Natural History ◽  
Biochemical Recurrence ◽  
History Of
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