The National MPS Society USA has posted recommendations for patients and families concerned about COVID-19.
Lysosomal Disease Network
10 present and former LDN members to present latest research at WORLDSymposium
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”
WORLDSymposium 2020
16th Annual WORLDSymposium is February 10 – 13, 2020 in Orlando, Florida, USA. This symposium is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest discoveries related to lysosomal diseases and the clinical investigation of these advances.
Ongoing Sanfilippo Syndrome Type A (MPS IIIA) Gene Therapy Clinical Trial Enrolling Patients
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 infotrials@nullabeonatherapeutics.com.
Enroll in the LDN’s Gaucher Disease Research Study
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!
RDCRN to expand
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.
Funded Rare Disease Clinical Research Training Program
“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.
Sanfilippo Syndrome type A (MPS IIIA) Gene Therapy Trial is Enrolling Participants
Lysogene is excited to announce the launch of its phase 2-3, single-arm trial to assess the efficacy of direct-to-CNS delivery of LYS-SAF302 in improving or stabilizing the neurodevelopmental status of MPS IIIA patients.
The search is on for MPS IIIA patients who fit the eligibility criteria for this trial, which is entitled “Multi-Center Study of AAVrh10-h.SGSH Gene Therapy in Patients with MPS IIIA (AAVance).” Details are available on ClinicalTrials.gov under its study number NCT03612869, or contact: patientadvocacy@nullnulllysogene.com.
Progress Towards Clinical Trial for Treatment of MPS IIIC
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.
2019 AGSD Patient / Family / Professional Conference
SEPTEMBER 20-21, 2019 IN HOUSTON, TEXAS, USA
Join the Association for Glycogen Storage Disease for their 41st Annual Patient/Family/Professional Conference for those affected with GSD, their families, and medical professionals involved in treatment or research of any type of GSD. The focus of this annual conference is meeting other people and families affected by GSD, gaining a better understanding of the GSDs and their implications, and learning about the latest research findings and upcoming studies.
The 2019 AGSD Patient/Family/Professional Conference will convene at the Hilton Houston NASA Clear Lake, and August 30, 2019 is the deadline for the special AGSD Conference room-rate of $109/night + taxes. Conference registration is now active. After August 30th, a late fee of $50.00 will be added to all conference registrations. Hotel reservations are attendees’ responsibility. The hotel parking fee is waived. Please call the Hilton Houston NASA Clear Lake at 1-866-577-1156 to make your reservation. You must identify yourself as part of the “AGSD Annual 2019 Conference” to get their discounted rate by the August 30th deadline.
If traveling by air, Hobby Airport [HOU] is the closest airport to the conference location. There is no free airport-shuttle offered by the hotel.
The AGSD Conference costs include the registration fee and the meal costs for Friday evening dinner and Saturday lunch. The Saturday evening dinner and entertainment is provided free for all conference registrants. The 1-mile Fun Run/Walk will be held at the completion of the Conference on Saturday; Fun Run/Walk registration is now open. The Fun Run/Walk is the main fundraiser for the Association for Glycogen Storage Disease this year, and participants are encouraged to enroll sponsors of their run/walk (pledge sheets are available). For further information about the Fun Run/Walk, please contact Jessica Knepler (or by phone at 815-483-1244).