The Lysosomal Storage Disorders Support Society appeals to Prime Minister Narendra Modi for urgent funding to support patients facing treatment interruptions due to exhausted financial assistance under the National Policy for Rare Diseases. The letter emphasizes the necessity for a ... The Lysosomal Storage Disorders Support Society appeals to Prime Minister Narendra Modi for urgent funding to support patients facing treatment interruptions due to exhausted financial assistance under the National Policy for Rare Diseases. The letter emphasizes the necessity for a continuity-of-treatment mechanism to aid those suffering from life-threatening conditions, particularly children with ultra-rare diseases. It said 164 patients had exhausted the financial assistance available under NPRD, 2021, of whom around 115 were patients suffering from ultra-rare LSDs, including Gaucher and Pompe disease. ... Many of these patients are children as young as two, three, four or five years of age, it added. LSDSS appealed to urgently reinstate treatment for all clinically eligible patients and to establish an interim funding arrangement until the matter is sub judice before the Supreme Court. It added that a continuity-of-treatment mechanism must be established under NPRD to fill a structural gap in the implementation of the policy. LSDSS said, “A mechanism is urgently required so that a patient requiring lifelong or long-term therapy is not abruptly rendered ineligible merely because the prescribed financial ceiling has been reached.” · It also urged that children and patients at high clinical risk must be prioritised for treatment and that all concerned Centres of Excellence must be directed to identify and report such patients immediately. LSDSS said patients with progressive, potentially life-threatening conditions were facing treatment interruptions after exhausting their sanctioned financial assistance.

Original title: “Patients with Rare Diseases Urge Prime Minister Modi for Additional Treatment Funding, ETHealthworld”

novel splice site variants in gba1 are associated with gaucher disease and genotype phenotype correlations

Original title: “Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.”

multiplex msms measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for gaucher disease

Original title: “Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.”

diagnostic challenge of pediatric gaucher disease in a low resource south asian setting a case report

Original title: “Diagnostic Challenge of Pediatric Gaucher Disease in a Low-Resource South Asian Setting: A Case Report.”

fetal perinatal lethal gaucher disease a case series

Original title: “Fetal/Perinatal Lethal Gaucher Disease: A Case Series.”

family studies in gaucher disease a key resource for early diagnosis and personalized treatment strategies

Original title: “Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies.”

In observance of Rare Disease Day, held annually on February 28, catch up on some of the latest data updates from clinical trials for rare diseases. In observance of Rare Disease Day, held annually on February 28, catch up on some of the latest data updates from clinical trials for rare diseases. ... Over the past few weeks, CGTLive has covered news and updates from clinical trials of cell and gene therapies in development for patients with a number of rare diseases, including data that were presented at AVROBIO’s AVR-RD-02, an investigational hematopoietic stem cell (HSC) gene therapy, has demonstrated sustained improvements in a 12-year-old male patient with type 3 Gaucher disease.5 Following myeloablative conditioning with busulfan, the patient received AVR-RD-02, which is comprised of autologous CD34+ cells that have been modified ex-vivo to express functional glucocerebrosidase, the disease-targeted enzyme, in 2 infusions lots. All patients achieved hematological recovery, stable engraftment, and restoration of arylsulfatase A enzyme to normal or supranormal levels by 3 months in peripheral blood mononuclear cells and by 3 to 12 months in cerebrospinal fluid. FBX-101 (Forge Biologics) gene therapy restored galactocerebrosidase (GALC) activity and supported normal white matter development in the first 2 patients with infantile Krabbe disease dosed in the phase 1/2 RESKUE clinical trial (NCT04693598).7 Efficacy signals included GALC levels 174-fold above normal controls in plasma and 3-to-10 fold above normal in cerebrospinal fluid. For Rare Disease Day, which is observed annually on February 28, the CGTLive team has gathered some of the latest updates on rare disease research below: Passage Bio’s PBGM01, an investigational adeno-associated virus (AAV) vector-based gene therapy currently being evaluated in the phase 1/2 Imagine-01 clinical trial (NCT04713475) for the treatment of infantile GM1 gangliosidosis, was shown to have a favorable safety profile and demonstrated dose-dependent changes in biomarkers.1 PBGM01 is intended to provide a functional copy of GLB1, the disease-targeted gene, via AAVhu68, and is administered to the central nervous system (CNS) with an intra-cisterna magna injection.

Original title: “Latest News in Gene Therapy for Rare Disease Day 2023 | CGTlive®”

In observance of Rare Disease Day, held annually on February 28, catch up on some of the latest data updates from clinical trials for rare diseases. In observance of Rare Disease Day, held annually on February 28, catch up on some of the latest data updates from clinical trials for rare diseases. ... Over the past few weeks, CGTLive has covered news and updates from clinical trials of cell and gene therapies in development for patients with a number of rare diseases, including data that were presented at AVROBIO’s AVR-RD-02, an investigational hematopoietic stem cell (HSC) gene therapy, has demonstrated sustained improvements in a 12-year-old male patient with type 3 Gaucher disease.5 Following myeloablative conditioning with busulfan, the patient received AVR-RD-02, which is comprised of autologous CD34+ cells that have been modified ex-vivo to express functional glucocerebrosidase, the disease-targeted enzyme, in 2 infusions lots. All patients achieved hematological recovery, stable engraftment, and restoration of arylsulfatase A enzyme to normal or supranormal levels by 3 months in peripheral blood mononuclear cells and by 3 to 12 months in cerebrospinal fluid. FBX-101 (Forge Biologics) gene therapy restored galactocerebrosidase (GALC) activity and supported normal white matter development in the first 2 patients with infantile Krabbe disease dosed in the phase 1/2 RESKUE clinical trial (NCT04693598).7 Efficacy signals included GALC levels 174-fold above normal controls in plasma and 3-to-10 fold above normal in cerebrospinal fluid. For Rare Disease Day, which is observed annually on February 28, the CGTLive team has gathered some of the latest updates on rare disease research below: Passage Bio’s PBGM01, an investigational adeno-associated virus (AAV) vector-based gene therapy currently being evaluated in the phase 1/2 Imagine-01 clinical trial (NCT04713475) for the treatment of infantile GM1 gangliosidosis, was shown to have a favorable safety profile and demonstrated dose-dependent changes in biomarkers.1 PBGM01 is intended to provide a functional copy of GLB1, the disease-targeted gene, via AAVhu68, and is administered to the central nervous system (CNS) with an intra-cisterna magna injection.

Original title: “Latest News in Gene Therapy for Rare Disease Day 2023 | CGTlive®”

maternal and fetal outcomes in imiglucerase treated patients with gaucher disease real world evidence from the international collaborative gaucher group icgg gaucher registry pregnancy sub registry

Original title: “Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry.”

exploring delayed diagnosis in gaucher disease insights from a community survey and potential solutions

Original title: “Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions.”

The efficacy data included 4 patients who had discontinued their SOC therapy in a time frame of 4 to 11 weeks after being treated with FLT201. Newly updated data from Spur Therapeutics’ phase 1/2 GALILEO-1 clinical trial (NCT05324943), which is evaluating the adeno-associated virus (AAV) vector-based gene therapy avigbagene parvec (also known as FLT201) for the treatment of Gaucher disease, has shown that patients who received the gene therapy have maintained clinical benefit for up to 2 years post treatment.1,2 The data were presented at the European Society of Gene & Cell Therapy (ESGCT) 32nd Annual Congress, held October 7 to 10, in Seville, Spain. They still have unmet needs, their bone complications are ongoing, so I don't think as clinicians we should underestimate how it's impacting the patients, and we should always look at better therapies and explore better options.” · Stay at the forefront of cutting-edge science with CGT—your direct line to expert insights, breakthrough data, and real-time coverage of the latest advancements in cell and gene therapy. However, it was noted that even ALT increases within the normal range were considered ADRs because the trial protocol considered such increases an adverse event of special interest. Two patients had ALT increases above the normal range that were considered related to the gene therapy product, but both cases resolved. In one of these patients, it was stated that the antibodies did not have an effect on efficacy. In the other patient, who remains on SOC, early GCase expression and lyso-Gb1 reduction were lost, which was deemed potentially related to anti-GCase antibodies and a COVID-19 infection that occurred in the month before gene therapy treatment.

Original title: “Patients Treated With Spur Therapeutics’ Gaucher Disease Gene Therapy FLT201 Maintain Clinical Benefit for Up to 2 Years | CGTlive®”

investigating the therapeutic profile of velaglucerase alfa in paediatric patients with gaucher disease a systematic review across all paediatric age groups

Original title: “Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups.”

The drug, which has suffered multiple setbacks over the years, could finally reach the market as a treatment for a form of Gaucher disease.

Original title: “Sanofi drug, inherited from Genzyme, goes 1-for-2 in rare disease trials”

Sanofi will take venglustat to regulators for Gaucher disease but an application for Fabry disease is less clear after the failure of a Phase III trial.

Original title: “Sanofi Rare Disease Drug Scores a Hit and a Miss in Phase III Tests”