The 18th ANNUAL WORLDSymposium took place in San Diego, and as an online meeting last week, 7-11 February. IGA CEO Tanya Collin-Histed attended the meeting virtually and reports on several posters and presentations relevant to the Gaucher community.
A total of 406 eposters were accepted to WORLD, and 80 of those made some reference to Gaucher disease.
The IGA were delighted to have a poster accepted on the work we are doing to understand the Gaucher Patients and Family Members Perceptions of Gene Therapy as a Treatment Option. In addition, IGA were an author on a joint poster with the International Working Group on Gaucher Disease (IWGGD) ‘A COLLABORATIVE APPROACH TO DEVELOPING INTERNATIONAL CLINICAL PATIENT CENTRIC GUIDELINES FOR GAUCHER DISEASE’
Some interesting posters included:
Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment. Early symptoms at 3 months of age, started on Ambroxol at 4 months and then due to peripheral biomarkers as well as hepatosplenomegaly, progressive anaemia and thrombocytopenia, enzyme replacement therapy was started at 15 months old. The conclusion was that the combination of high dose Ambroxol and ERT has proven to be a promising approach for GD2 patients with certain mutations.
Charlotte Aries, International Center for Lysosomal Disorders, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany: Mass spectrometry analysis of the vitreous fluid from a Gaucher disease type 3 patient, discussed a patient whose vison deteriorated with flecks in the eyes, later incurring larger white deposits in both eyes, followed by blurred vison and orbs. The patient underwent a surgical procedure which improved the patient visual acuity. The poster concluded that patients that with GD should be carefully screened and monitored for this ocular complication since vision can be improved with vitrectomy, hopefully long term.
Christiane Auray-Blais, Université de Sherbrooke, Sherbrooke, QC, Canada: Prenatal enzyme replacement therapy for lysosomal disorders: launching a phase 1 clinical trial, seeking to treat several diseases, including neuronopathic Gaucher disease (nGD) in utero, with ERT when there is a known family history. This study has treated a Pompe patient and at 3 months; the infant continues to do well, feeding well with age-appropriate motor milestones. The trial is recruiting patients with several other diseases including an nGD patient.
Tippi C. Mackenzie, University of California, San Francisco, CA, USA: An 18 – month report on the safety and efficacy of repaid velaglucerase alfa infusions in naïve patients with Gaucher disease, discussed this study that was borne out of Gaucher patients independently reducing their infusion time and on follow up having no adverse effects. The study initiated at the Gaucher unit, Shaare Zedek Medical Centre, Jerusalem, Israel, saw treated patients and naive patients undertake a controlled reduction in their infusion time. To date, under the centre’s study, Gaucher patients continue to receive their ERT infusions over a ten-minute period.
Michael Becker-Cohen, Gaucher unit, Shaare Zedek Medical Centre, Jerusalem, Israel: Newborn Screening. There were several posters and presentation on newborn screening at the meeting, highlighting pilot projects in Ohio, US; Brazil and Latin America.
The symposium also saw presentations on new approaches to treat Gaucher disease including:
Several presentations on the development of a next-generation enzyme replacement and gene therapies for a number of lysosomal disorders including Gaucher disease - M6P
The development of a therapy that identifies and optimises structurally targeted binding sites for the treatment of neuronopathic Gaucher disease. Study results demonstrate an increase in Glucocerebrosidase protein levels, a reduction in the production of inflammatory cytokines, and improvement in key lysosomal functions - Gain Therapeutics
High-resolution cellular and molecular follow-up of lysosomal disease patients treated with hematopoietic stem cell lentiviral gene therapy - Avrobio
The design of a phase1/2 safety and efficacy study of FLT201 (their gene therapy) in adults with Gaucher disease type 1 - Freeline
PR001 gene therapy increased Glucocerebrosidase activity and improved GD type 1 phenotype in mouse models - Prevail
Pharmacokinetics and biomarker responses (GL-1, Lyso-GL -1, and CSF) in patients with Gaucher disease type 3 (LEAP trial) or GBA-associated Parkinson disease treated with venglustat. The LEAP study demonstrated that venglustat crossed the blood-brain barrier and steady state was achieved on or before 4 weeks of treatment. Venglustat treatment resulted in marked reductions in GL-1 and Lyso-GL1 levels in CSF and plasma - Sanofi
Please note that this is a snapshot of the topics that were presented at WORLD.
No comments:
Post a Comment