KrabbeConnect Disease Publications Library
A library of disease publications to inform patients, caregivers, and others, on the research conducted on Krabbe Disease.
This library was established to inform patients, caregivers, and others, on the research conducted on Krabbe disease. Scientific research enhances diagnostic tools and advances treatments yet, published articles often result in access and medical dialect barriers. The library, currently in the initial stages, will alleviate this obstacle by providing access to published articles, graciously renovated into patient-friendly context by KrabbeConnect, to ensure those living with Krabbe disease are connected to the research.
Improved brain pathology and progressive peripheral neuropathy in a 15 year old survivor of infantile Krabbe disease treated with umbilical cord transplantation
Kofler J, Beltran-Quintero ML, Rugari A, et al. Improved Brain Pathology and Progressive Peripheral Neuropathy in a 15-Year-Old Survivor of Infantile Krabbe Disease Treated With Umbilical Cord Transplantation. Front Mol…
Benefits of Newborn Screening and Hematopoietic Cell Transplant in Infantile Krabbe Disease
Page KM, Ream MA, Rangarajan HG, et al. Benefits of Newborn Screening and Hematopoietic Cell Transplant in Infantile Krabbe Disease [published online ahead of print, 2022 Jan 18]. Blood Adv.…
Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease.
kIsabel C. Yoon, Nicholas A. Bascou, Michele D. Poe, Paul Szabolcs, Maria L. Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease.Blood 2021; 137 (13): 1719–1730 Click…
Krabbe disease successfully treated via monotherapy of intrathecal gene therapy
Bradbury AM, Bagel JH, Nyugen D,et al. Krabbe disease successfully treated via monotherapy of intrathecal gene therapyA type of therapy that offers hope and promise for a cure for many genetic disorders. A working copy of the gene replaces the non-working copy of the gene. Gene therapy is at the forefront of many …. J Clin Invest. 2020. Click here to view publication Background Although effective therapies…
Read More Krabbe disease successfully treated via monotherapy of intrathecal gene therapy
Reduced-intensity single-unit unrelated cord blood transplant with optional immune boost for nonmalignant disorders.
Vander Lugt et al, Reduced-intensity single-unit unrelated cord blood transplantSee Umbilical Cord Blood Transplant (UCBT). with optional immune boost for nonmalignant disorders. Blood Advances 2020; 4 (13): 3041-3052 Click here to view publication Background Historically,…
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM,…
Read More The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Screening for Krabbe disease: The first 2 years’ experience
Pannuzzo, G, Graziano, ACE, Avola, R, Drago, F, Cardile, V. Screening for Krabbe disease: The first 2 years’ experience.Acta Neurol Scand . 2019; 00: 1– 7. Click here to view…
Read More Screening for Krabbe disease: The first 2 years’ experience
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life
Nicholas Bascou, Anthony DeRenzo, Michele D. Poe and Maria L. Escolar Bascouet al. Orphanet Journal of Rare Diseases (2018) 13:126 Click here to view publication Background Natural history studies are…
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months
Maria L. Beltran-Quintero, Nicholas A. Bascou, Michele D. Poe, David A. Wenger, Carlos A. Saavedra-Matiz, Matthew J. Nichols and Maria L. Escolar Orphanet Journal of Rare Diseases 2019 14:46 Click here to view publication Background Krabbe disease is a rare neurological disorder caused by…
Read More Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months
Developmental Outcomes of Cord Blood Transplantation for Krabbe Disease
Matthew D. Wright, Michele D. Poe, Anthony DeRenzo, Shilpa Haldal, Maria L. Escolar. Developmental outcomes of cord blood transplantation for Krabbe disease; a 15-year study Neurology Aug 2017, 10.1212/WNL.0000000000004418; DOI:10.1212/WNL.0000000000004418.…
Read More Developmental Outcomes of Cord Blood Transplantation for Krabbe Disease
Intrathecal Administration of AAV/GALC Vectors in 10-11 Day old Twitcher Mice Improves Survival and is Enhanced by Bone Marrow Transplant.
Download a PDF of this Article Karumuthil-Melethil S, Marshall MS, Heindel C, Jakubauskas B, Bongarzone E, Gray SJ. Intrathecal Administration of AAV/GALC Vectors in 10-11 Day old Twitcher Mic Improves Survival…
Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice.
Rafi MA, et al. Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10 GALC in Twitcher Mice. Molecular Therapy. Volume 23, Issue 11,…
Psychosine, a marker of Krabbe phenotype and treatment effect.
Escolar ML, Kiely BT, Shawgo E, et al. PsychosineDue to the enzyme deficiency in Krabbe disease, psychosine accumulates in the nervous system of affected individuals. Psychosine, a galactolipid, is a cytotoxic type of lipid, that has destructive pr…, a marker of Krabbe phenotype and treatment effect. Mol Genet Metab. 2017;121(3):271-278. Click here to view publication Background Newborn screening (NBS)…
Read More Psychosine, a marker of Krabbe phenotype and treatment effect.