Regulators in Australia are providing hope to thousands of patients around the world that suffer from a rare genetic disease that currently has no approved treatment. Late last month, CAMP4 Therapeutics was given permission by Australia's top drug regulator to initiate a clinical trial for its ... Regulators in Australia are providing hope to thousands of patients around the world that suffer from a rare genetic disease that currently has no approved treatment. Late last month, CAMP4 Therapeutics was given permission by Australia's top drug regulator to initiate a clinical trial for its therapy designed to treat SYNGAP1-related disorders, a rare genetic disease marked by epilepsy and neurodevelopmental delays. CAMP4's trial will deploy a double-blind model, in which half the participants receiving the ASO - a process that involves a lumbar puncture to inject the medication directly into the cerebrospinal fluid - will be given a placebo. Administering placebos in clinical trials involving rare disease patients is sometimes seen as a controversial practice within that community, where patients who desperately need therapies often have very few approved treatment options. CAMP4 is preparing a Phase 1/2 trial of an experimental SYNGAP1 therapy, marking a major milestone for patients with the rare disease. Early results for CAMP4's ASO therapy have been promising. A preclinical study involving primates found the treatment increased protein expression in the brain, and a mouse model showed improved seizure measures. CNBC Cures' Becky Quick - whose daughter Kaylie was diagnosed with SYNGAP1 at age 2 - spoke with CAMP4's CEO, Josh Mandel-Brehm, and asked him about the trial's design and what it means for the thousands living with the devastating rare disease.

Among 19 additional patients with ... treatment to broader use in genetically compatible patients, the researchers said. Kim-McManus said funding and regulatory support are among the main challenges to expanding this approach to more patients in a broader clinical trial. She is working on tackling these obstacles in collaboration with nonprofit and other entities in the hopes of bringing genetic therapies to more patients with rare disease... Among 19 additional patients with SCN2A-related disorders identified through rapid whole-genome sequencing, three (16%) had a genetic configuration that could potentially be targeted by the ASO developed for the older patient, supporting a possible path from single-patient treatment to broader use in genetically compatible patients, the researchers said. Kim-McManus said funding and regulatory support are among the main challenges to expanding this approach to more patients in a broader clinical trial. She is working on tackling these obstacles in collaboration with nonprofit and other entities in the hopes of bringing genetic therapies to more patients with rare disease. Individualized gene therapies reduce seizures and lead to developmental gains in two boys with severe, treatment-resistant SCN2A-related epilepsy. Both therapies were well tolerated, with no treatment-related serious adverse events, abnormal laboratory findings, or clinically significant changes on ECG or EEG. The investigators said long-term follow-up is needed to determine the durability of the safety and efficacy findings. They also noted that some disease effects may be less reversible when treatment begins later, suggesting that early genetic diagnosis and intervention could maximize the benefit. The therapies were designed to reduce production of the disease-causing SCN2A transcript while preserving expression of the healthy copy of the gene. The ASOs were administered by intrathecal injection, with doses generally repeated every 2-3 months and adjusted according to the patients’ clinical response.