Recent research in Spain suggests that home-based infusion may be necessary to minimize patient exposure to COVID-19 in the clinic. The full text of the article, as published in the journal Blood Cells, Molecules & Diseases , is available here.
The National Tay-Sachs and Allied Diseases (NTSAD) Association has released a statement on their website discussing their ongoing operations and available patient resources during the COVID-19 crisis.
The Fabry Support & Information Group (FSIG) features an Appointment Companion portal on its website – to help patients remotely inform Fabry care teams during the COVID-19 crisis about their treatment goals and challenges, browse clinical trials, and compare treatment centers.
The National MPS Society USA has posted recommendations for patients and families concerned about COVID-19.
On Oct. 3, 2019, NIH announced awards to expand the RDCRN.
The RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing.
Currently, the RDCRN consists of 20 distinct clinical research consortia and a Data Management and Coordinating Center (DMCC). Each consortium focuses on at least three related rare diseases, participates in multisite studies and actively involves patient advocacy groups as research partners. The DMCC enables uniform high-quality data collection and analysis and facilitates information sharing across the network. This robust data source helps scientists better understand the common elements of rare diseases so they may apply that knowledge to improving diagnosis and treatment for these conditions.
Lysosomal Disorders Network headed by Chester B. Whitley, M.D., Ph.D., University of Minnesota, Minneapolis was the recipient of one of the awards.
U.S.-based biotechnology company Phoenix Nest, Inc. has signed a license agreement with the University of Manchester in the U.K. to use the product of research conducted by Professor Brian Bigger’s laboratory at the University of Manchester, working in collaboration with Dr. Els Henckaerts’ laboratory at King’s College London. Dr. Bigger is Professor of Cell and Gene Therapy at the University of Manchester. Dr. Henckaerts is Lecturer in the Department of Infectious Diseases at King’s College London. Phoenix Nest, Inc. plans to take the licensed research product to clinical trial for patients with Sanfilippo syndrome type C (MPS IIIC). This license agreement is an important early step on the long journey to an FDA-approved clinical trial of this gene therapy.
The research product which has been licensed by Phoenix Nest, Inc. is based on the discovery of a novel adeno-associated viral vector (AAV) with an altered protein coat, which appears to make the virus work better within the brain. This new vector, called AAV-TT (AAV-true type), has been altered to efficiently deliver the missing HGSNAT gene to the brain to treat MPS IIIC. Comprising an international group of scientists, the research teams concluded that they had demonstrated complete behavioral and brain correction of Sanfilippo syndrome type C in mice. Dr. Bigger said, “This gene therapy technology, recently published in the journal Brain, will be used by Phoenix Nest to treat Sanfilippo syndrome type C.”
The Sanfilippo Children’s Foundation (in Australia), an LDN-associated patient advocacy group, was one of eight foundations who helped co-fund this research project. The other co-funding foundations included: Jonah’s Just Begun, another LDN-associated patient advocacy group; King’s College London Commercialization Institute; Sanfilippo Barcelona; Sanfilipo Portugal; Sanfilippo Brasil; Le Combat de Haitem-Contre Sanfilippo; JLK Sanfilippo Research Foundation; and VML Foundation. Additional funding sources are listed near the end of the article in Brain.
Abeona Therapeutics, Inc. is enrolling individuals aged 6 months and older who have MPS IIIB and evidence of neurologic dysfunction in its Phase I/II non-randomized clinical trial of a one-time gene therapy with ABO-101. ABO-101 is Abeona’s designation for rAAV9.CMV.hNAGLU. The clinical trial is an open-label, dose-escalation trial of ABO-101 injected intravenously through a peripheral limb vein. Trial participants will receive a one-time intravenous injection of either high- or low-dose ABO-101. Researchers will then assess the treatment’s safety and effectiveness at six, 12, and 24 months after gene therapy administration. There are two clinic locations for this clinical trial: Nationwide Children’s Hospital in Columbus, Ohio, USA; and Hospital Clínico Universitario de Santiago, in Santiago De Compostela, Spain.
On May 8, 2019 the Minnesota Senate unanimously passed legislation that would create a new rare disease advisory council at the University of Minnesota to facilitate the study and treatment of rare diseases. Erica Barnes, co-founder and Board Chairperson of Chloe’s Fight Rare Disease Foundation, worked tirelessly for the creation and passage of this bill. Chloe’s Fight Rare Disease Foundation is affiliated with the Lysosomal Disease Network.
The bipartisan bill, authored by Sen. Jeremy Miller (R-Winona), created the ‘Chloe Barnes Rare Disease Advisory Council’ at the University of Minnesota. The late Chloe Barnes was born with metachromatic leukodystrophy, and was the daughter of Erica Barnes. Chloe died of metachromatic leukodystrophy at the age of two in 2010.
The work of the Chloe Barnes Rare Disease Advisory Council is to identify best practices to diagnose and treat rare diseases; to educate the public; and to advise state agencies on related policy issues. To facilitate close collaboration with experts at the University of Minnesota Medical School and the Mayo Clinic School of Medicine, the Council will be established within the University of Minnesota. The Council will partner with legislators and other government leaders to provide expert opinion on the provider‐patient relationship, increase access to vital life‐saving medications and therapies, and bring cutting-edge research and technologies to Minnesota. Physicians, nurses, hospital administrators, rare disease advocacy organizations, caretakers, and patients themselves will have a seat at the table.
Senator Miller said, “Creating this new Rare Disease Advisory Council will help families receive faster diagnoses, advance groundbreaking research, and ultimately help find cures. I am especially proud of the amazing grassroots effort behind this bill. This was driven by everyday people who took a difficult situation and channeled their frustration, their grief, and their anxiety into something incredibly positive. This includes the family of Chloe Barnes and the Quimby family from Winona who lost their 5-year-old son Gavin to a rare disease. I’m proud to play a small part in their story.”
The interesting details about the membership of the Chloe Barnes Rare Disease Advisory Council and the members’ appointment-term are here (click on the “Bill Text” tab). Initial appointments to the Chloe Barnes Rare Disease Advisory Council shall be made no later than September 1, 2019.
The Legacy of Angels Foundation, which vigorously supports research into treatments and a cure for Krabbe disease and Cystic Fibrosis, and works to promote the expansion of newborn screening, announces the recipient of the 2019 Sue Rosenau Legacy Award. The award was created to honor the late Co-Founder and Chief Operating Officer of The Legacy of Angels Foundation, Sue Rosenau. This remarkable woman died on July 31st, 2018. To keep Sue’s legacy alive within the Foundation and community at large, The Legacy of Angels Foundation honors an individual for his\her achievements in Sue’s name each year. This legacy award recognizes an inspirational leader who has delivered extraordinary contributions, worked to propel progress towards a better treatment, and continuously gives altruistic support to the patient community; a replica of Sue Rosenau.
This year’s recipient is Dr. David A. Wenger, PhD, Director of the Lysosomal Disease Testing Laboratory at Sidney Kimmel Medical College (formerly Jefferson Medical College), part of Thomas Jefferson University in Philadelphia, Pennsylvania. This laboratory was established in 1973 by Dr. Wenger, and currently receives the largest number of samples for lysosomal diseases in the world. Testing has resulted in the diagnosis of over 4,600 individuals with a lysosomal disease.
Dr. Wenger is known for being the first to purify the missing enzyme in Krabbe disease, GALC, and the first to clone the GALC cDNA gene. He’s also identified over 100 mutations causing Krabbe disease in humans, successfully placed human and mouse GALC cDNA into several viral vectors including retroviral, adeno-associated viruses, lentiviruses and SV40. Dr. Wenger has transduced oligodendrocytes from the twitcher mouse with viral vectors containing human GALC cDNA, and corrected them to a normal phenotype. He has published many prominent peer-reviewed journal articles. Thanks to Dr. Wenger’s five decades of commitment and hard work, the Krabbe disease community remains hopeful that a clinical trial for Krabbe disease will be available by 2020.