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About 148 results

ALLMedicine™ Canavan Disease Center

Research & Reviews  51 results

rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease
https://clinicaltrials.gov/ct2/show/NCT04833907

Oct 5th, 2021 - rAAV-Olig001-ASPA is the first gene therapy designed to target the oligodendrocytes, which are critical for myelination and brain development. This study is a Phase 1/2 First-In-Human protocol designed to obtain safety, pharmacodynamics, and effic...

Ablating the Transporter Sodium-Dependent Dicarboxylate Transporter 3 Prevents Leukodys...
https://doi.org/10.1002/ana.26211
Annals of Neurology; Wang Y, Hull V et. al.

Sep 10th, 2021 - Canavan disease is caused by ASPA mutations that diminish brain aspartoacylase activity, and it is characterized by excessive brain storage of the aspartoacylase substrate, N-acetyl-l-aspartate (NAA), and by astroglial and intramyelinic vacuolatio...

The natural history of Canavan disease: 23 new cases and comparison with patients from ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8132415
Orphanet Journal of Rare Diseases; Bley A, Denecke J et. al.

May 21st, 2021 - Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was studied retrospectively and prospective...

Mapping the degradation pathway of a disease-linked aspartoacylase variant.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8084241
PLoS Genetics; Gersing SK, Wang Y et. al.

Apr 30th, 2021 - Canavan disease is a severe progressive neurodegenerative disorder that is characterized by swelling and spongy degeneration of brain white matter. The disease is genetically linked to polymorphisms in the aspartoacylase (ASPA) gene, including the...

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Clinicaltrials.gov  1 results

rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease
https://clinicaltrials.gov/ct2/show/NCT04833907

Oct 5th, 2021 - rAAV-Olig001-ASPA is the first gene therapy designed to target the oligodendrocytes, which are critical for myelination and brain development. This study is a Phase 1/2 First-In-Human protocol designed to obtain safety, pharmacodynamics, and effic...

see more →

News  7 results

University of Pennsylvania Orphan Disease Center Posts RFPs
https://www.mdedge.com/familymedicine/article/113282/rare-diseases/university-pennsylvania-orphan-disease-center-posts-rfps
Neurology Reviews;

Sep 23rd, 2016 - Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.

University of Pennsylvania Orphan Disease Center Posts RFPs
https://www.mdedge.com/neurology/article/113282/rare-diseases/university-pennsylvania-orphan-disease-center-posts-rfps

Sep 23rd, 2016 - Grants made possible by the “Million Dollar Bike Ride” and rare disease patient organizations are now available through the University of Pennsylvania Orphan Disease Center. September 16 is the deadline for letters of intent.

The Perfect Student Is Not A Myth: Genetic Engineering of Embryos Is A Real Probability
https://www.medscape.com/viewarticle/852445

Oct 26th, 2015 - I am Art Caplan from the Division of Medical Ethics at the NYU Langone Medical Center in New York City. Here is a bulletin from the future of medicine. There is a new technique called CRISPR/Cas9, which allows scientists to edit the germ-line info...

Genetic Diagnosis Before IVF Avoids Prion Disease
https://www.staging.medscape.com/viewarticle/820157

Feb 4th, 2014 - A technique called preimplantation genetic diagnosis (PGD) has allowed a woman carrying the gene for Gerstmann-Sträussler-Sheinker syndrome (GSS), a fatal neurodegenerative disorder linked to abnormal prion protein folding, to selectively implant ...

Genetic Diagnosis Before IVF Avoids Prion Disease
https://www.medscape.com/viewarticle/820157

Feb 4th, 2014 - A technique called preimplantation genetic diagnosis (PGD) has allowed a woman carrying the gene for Gerstmann-Sträussler-Sheinker syndrome (GSS), a fatal neurodegenerative disorder linked to abnormal prion protein folding, to selectively implant ...

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