ALLMedicine™ Canavan Disease Center

Feb 16th, 2023 - Canavan disease is an ultra-rare, profoundly disabling and fatal disease with no approved therapy. The Sponsor is developing BBP-812, an investigational gene therapy product for systemic delivery in participants with Canavan disease. BBP-812 is a ...

Feb 16th, 2023 - The CANinform natural history study is the first multinational effort to rigorously gather both retrospective and prospective data from this patient population. Data collection includes extraction of retrospective data from medical records of livi...

Feb 8th, 2023 - 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...

Nov 2nd, 2022 - On Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: Genomic signatures of a founder event.|2022|Das R,|

Oct 7th, 2022 - Mild/juvenile Canavan disease (M/JCD) is less frequently reported in the literature and little is known about its pathogenetic mechanisms. We report a comprehensive investigation into the pathogenetic mechanism of a novel NM_000049.4(ASPA):c.526G>...

Feb 16th, 2023 - Canavan disease is an ultra-rare, profoundly disabling and fatal disease with no approved therapy. The Sponsor is developing BBP-812, an investigational gene therapy product for systemic delivery in participants with Canavan disease. BBP-812 is a ...

Feb 16th, 2023 - The CANinform natural history study is the first multinational effort to rigorously gather both retrospective and prospective data from this patient population. Data collection includes extraction of retrospective data from medical records of livi...

Feb 8th, 2023 - 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...

Apr 8th, 2022 - A recombinant virus vector constructed from adeno-associated virus (AAV) has been engineered to carry the human aspartoacylase (ASPA) gene expressed from a modified CMV-enhancer chicken β-actin (CB6) promoter. The construct has been shown to produ...

Nov 1st, 2019 - For this study, families of subjects will fill out a Canavan Patient Survey which asks questions about disease development, symptoms and progression. Patients will be seen in Dr. Eichler's Leukodystrophy clinic for standard of care appointments. T...

Dec 5th, 2020 - Mark Capone As precision medicine continues to evolve in cancer care, the development of highly sophisticated tests that leverage the explosion of knowledge about the molecular and protein characteristics of an individual patient’s tumor has emer...

Jul 24th, 2017 - Photo by Graham Colm Blood samples Quest Diagnostics has announced the US launch of QHerit™, a genetic screening service that helps people of multiple ethnicities identify their risk of passing on heritable disorders to their offspring. The QHerit.

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.

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.

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...