The current outbreak of the novel severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), causing coronavirus disease 2019 (COVID-19), has become a worldwide pandemic with high morbidity and mortality in individuals with chronic disorders.1 The pandemic introduced many unanticipated challenges for patients with chronic and rare diseases, such as Gaucher disease (GD).2 GD is the most common inborn error of metabolism, caused by biallelic glucosylceramidase beta (GBA) variants and affecting the recycling of cellular glycolipids; GD manifests as hepatosplenomegaly, thrombocytopenia, anaemia and bone disease.3
The entire article is available here.
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.Thompson-Stone R, Ream MA, Gelb M, Matern D, Orsini JJ, Levy PA, Rubin JP, Wenger DA, Burton BK, Escolar ML, Kurtzberg J.Mol Genet Metab. 2021 Apr 3:S1096-7192(21)00083-4. doi: 10.1016/j.ymgme.2021.03.016. Online ahead of print.PMID: 33832819
Excerpt – “Objective: to provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Disease (LOKD).“
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Scheduled enzyme replacement therapy (ERT) during COVID-19 has often been disrupted. This article considers the possibility of adverse outcomes caused by the disruption in the treatment of patients with lysosomal storage disorders. The full text of the article is available here.
The Sanfilippo Children’s Foundation is now accepting Expressions of Interest for their 2021 Grants Round.
– Wednesday 24 February: Grant round opens (Expression of Interest application forms will be made available on our website)
– Wednesday 24 March: Expression of Interest due
The Sanfilippo Children’s Foundation is particularly interested in three focus areas:
– halt disease progression through therapies such as enzyme replacement, gene therapy and cell therapy and strategies to enhance the effectiveness of such emerging therapies
– repair and reverse the cell damage caused by Sanfilippo Syndrome, which could include the application of neuroregeneration advances made for other neurodegenerative diseases
– improve quality of life through palliative care and symptom management specific to Sanfilippo Syndrome
More information about our research strategy and funding program can be found on our website: https://www.sanfilippo.org.au/research/research-funding-program
The purpose of the Sanfilippo Children’s Foundation is to drive research for a world without Sanfilippo Syndrome.
This will be achieved by:
- Funding research which might halt progression of the condition, reverse damage caused or improve quality of life for patients with the condition;
- Providing clear, accurate and up-to-date information to diagnosed families regarding the disease, therapeutic avenues and current research programs;
- Raising awareness of the disease amongst the community, including the medical profession;
- Advocating for improved outcomes for the Sanfilippo patient community;
- Improving the diagnosis path – more accurate and earlier diagnosis to enable appropriate treatment.
Researchers at the University of Gdańsk, Poland have conducted tests that show certain genes in the DNA of MPS patients render their cells less susceptible to COVID-19 infection than normal cells, though the typical – for storage diseases – narrowing of the respiratory tract and presence of thick mucous are still risk factors for infection. The full text of the article is available here
Recent research from Italy reviews the impact of COVID-19 on patients with lysosomal disease, in a manuscript titled “Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience” published in the journal Molecular Genetics & Metabolism. The complete text of the article is available here.
Present and former LDN Members will present a series of studies and insights relating to lysosomal diseases at the 16th annual WORLDSymposium to be held from February 10-13, 2020 in Orlando, Florida. WORLDSymposium is designed to help researchers and clinicians to better manage and understand diagnostic options for patients with lysosomal diseases, identify areas requiring additional basic and clinical research, public policy and regulatory attention, and identify the latest findings in the natural history of lysosomal diseases.
- Behzad Najafian, LDN Project PI (2:30 pm Monday) to present “Podocyte globotriaosylceramide (GL-3) content in female adult patients with Fabry disease and amenable mutations reduces following 6 months of treatment with migalastat”
- Sarah Kim, LDN Fellow, (4:00 pm Monday) to present “Quantification of cerebrospinal fluid chitotriosidase in a clinical laboratory is validated for use in diagnosis and clinical trials”
- LI Ou, LDN Fellow (1:15 pm Tuesday) to present “Liver-targeting gene editing achieves significant neurological benefits in MPS I mice”
- Paul J.Orchard, LDN Project Co-PI (2:25 pm Tuesday) to present “High dose hematopoietic stem cell transplantation leads to rapid hematopoietic and microglial recovery and disease correction in a mouse model of Hurler syndrome”
- Ankit Desi, LDN Fellow and Project Co-PI (3:45 pm Tuesday) to present “Benefits of prophylactic short-course immunomodulation in patients with infantile Pompe disease: Demonstration of long-term safety and efficacy in a large cohort”
- Raymond Wang, former LDN Project PI (3:30 pm Wednesday) to present “Long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis type VII”
- Marc Patterson, former LDN Project PI, LDN Education Core Director (4:15 pm Wednesday) to present “Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo-controlled trial with a novel treatment”
- Raffi Schiffmann, LDN Project PI (9:15 am Thursday) to present “Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3”
- Stephanie Austin, LDN Project Co-PI (10:45 am Thursday) to present “Extended treatment with VAL-1221, a novel protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease”
- Paul Harmatz, LDN Project site PI (11:00 am Thursday) to present “A new randomized placebo controlled study to establish the safety and efficacy of velmanase alfa (human recombinant alpha-mannosidase) enzyme replacement therapy for the treatment of alpha-mannosidosis”
Abeona Therapeutics, Inc. is enrolling patients in a Phase I/II non-randomized, open-label clinical trial studying a one-time gene therapy for Sanfilippo syndrome type A (MPS IIIA). They have entitled this study ‘The Transpher A Study.’ Caregivers interested in enrolling their children can visit AbeonaTrials.com to take an eligibility survey and learn more about the study. Additional details can be found at ClinicalTrials.gov under study number NCT02716246 or by contacting firstname.lastname@example.org.
Study Locations: University of Minnesota in the Twin Cities; and New York University in New York City.
The search is on for Gaucher disease patients who fit the eligibility criteria for the Lysosomal Disease Network’s ongoing research study entitled “Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications.” (The Rare Diseases Clinical Research Network will make every effort to enroll all the patients it can, but it cannot make any guarantees that it will be able to enroll everyone in a particular study who wants to participate.) Many details about this study can be found at ClinicalTrials.gov under its study number NCT02583672.
Briefly, the purpose of this study is to measure blood and brain chemicals related to oxidative stress and inflammation in healthy volunteers and individuals with type 1 Gaucher disease (“GD1”). The investigators want to learn if these levels are abnormal in patients with GD1. They will also examine if there is a change in these blood and brain chemicals in GD1 patients after treatment with orally-administered N-acetylcysteine (“NAC”). NAC is available both as a prescription medication and as a “natural supplement” product in some retail markets. NAC has antioxidant and anti-inflammatory effects, and has been used for many years for the treatment of lung diseases, such as chronic obstructive pulmonary disease, and cystic fibrosis. The findings from this study may add to our understanding of how Gaucher disease causes tissue damage, and may lead to better treatment options for GD1.
The principal investigator of this study is Reena Kartha, PhD, located at the University of Minnesota in the Twin Cities. To see if you may be eligible to participate, first read the entry at ClinicalTrials.gov, and after that, you may e-mail your questions to Dr. Kartha at the University of Minnesota. Thank you for your time and consideration!
“Rare Opportunity for Young Researchers”
The Rare Diseases Clinical Research Network (RDCRN) annually offers early-career rare disease researchers this excellent training and networking opportunity. This is available to researchers associated with one of the RDCRN’s research consortia. (The Lysosomal Disease Network is one such RDCRN consortium.) The Rare Diseases Training Program is recruiting for the 2019 – 2020 academic year. More information about the Rare Diseases Training Program, as well as the form to complete and submit as part of your application, are available by clicking on the download link on this web page (scroll down). The Rare Disease Clinical Research Training Program accepts applications and sends-out acceptances on a rolling basis.
This academic-year-long course consists of both in-person and remote sessions providing the tools and mentoring needed for a successful career in rare diseases clinical research. Topics include: statistics in small populations, interactions with industry and pharmaceutical companies, successful grant writing, working with patient and family advocates and groups, research career design and planning, and successful publishing in the field of rare diseases.
Participation requires a 10% time-commitment from the applicant’s program chair or department chair for the applicant’s dedicated, focused research time. In addition, the program requires: two 2-day trips to the Washington, D.C. area; two 1-hour webinars per month; completion of a mentored research project with culmination in a poster presentation at the Fall 2020 RDCRN meeting in the Washington, D.C. area; and about 4 hours of projects/reading per month for preparation. Certificates will be awarded to participants completing at least 75% of the course content at or above acceptable levels. The first 2-day trip to the Washington, D.C. area will occur October 21-22, 2019.
Twenty competitive participants will be awarded a “funded” position. This funding will provide $1,000/year reimbursement towards attending the two 2-day trips to the Washington, D.C. area. Applicants can apply for the funded program (the “travel group”), while also indicating that they wish to be considered for the unfunded program if not chosen for funding. Up to twelve additional unfunded positions are available to excellent applicants this year.
Applicants are requested to submit the following: the completed downloadable application form (scroll down); their CV; and a letter of commitment from their supervisor supporting their participation in this Training Program, as well as offering to support any costs that exceed the reimbursed costs (if any) of participation in this Training Program.