San Carlos

This research aims to study the safety, tolerability, pharmacokinetics, and pharmacodynamics of the drug VX-670 in adults who have Myotonic Dystrophy Type 1 (DM1). The trial involves participants aged 18 to 64 years with a confirmed diagnosis of DM1, including a genetic test showing a specific CTG repeat count. The study is a Phase 1/2 trial designed to assess how the drug behaves and how well it is tolerated in this population. Participants will receive VX-670 or a placebo, both administered intravenously, in single and multiple dose escalations. The study is randomized, double-blind, and placebo-controlled to compare the effects of the drug against a non-active treatment. The treatment periods include initial dosing and extended follow-up to evaluate responses over time. During the study, researchers will monitor participants closely for any adverse events from the start up to 42 days in the initial phase and up to 168 days in the extended phase. Safety and tolerability will be the main focus, alongside collecting data on how the drug is processed by the body and its biological effects. Participants will undergo assessments to track these outcomes throughout their involvement in the trial.

Researchers are evaluating the effect of the study drug ZT-01 on low blood sugar events during the night in adults with type 1 diabetes who frequently experience nighttime hypoglycemia. ZT-01 works by increasing glucagon, a hormone that helps raise blood sugar, and the study aims to find out if ZT-01 reduces the number of these low blood sugar episodes and how it affects overall blood sugar levels. The safety of ZT-01 will also be monitored throughout the trial. Participants will self-inject either ZT-01 or a placebo before bedtime during two separate 4-week treatment periods. They will receive one of three doses of ZT-01 (7 mg, 15 mg, or 22 mg) during one period and placebo during the other, with neither participants nor study staff knowing which treatment is given when. Participants will wear a study-provided continuous glucose monitor (CGM) during both periods to track blood sugar levels, and those not using their own CGM or unwilling to share their CGM data will wear the study CGM for an extra 4 weeks before treatment begins. Throughout the study, participants will attend six visits and two phone calls over about 16 weeks. They will provide blood and urine samples, have their blood pressure and temperature checked, and receive ECG tests at four visits. Some participants may join a sub-study measuring blood levels of ZT-01 and glucagon, requiring overnight stays at the study site. Participants will also complete daily diaries and upload CGM data to a study phone each day. The main outcome measured is the number of nighttime low blood sugar events during each treatment period.

Researchers are developing and validating a single-gene Non-Invasive Prenatal Test (sgNIPT) to detect serious health conditions in unborn babies. This test focuses on conditions such as cystic fibrosis, spinal muscular atrophy, sickle cell disease, alpha thalassemia, and beta thalassemia. The goal is to provide information about the possibility that a child will be born with one of these disorders, even when reproductive partner screening is not available or prenatal diagnostic testing is not an option. The study evaluates the investigational sgNIPT device, which is intended for pregnant people whose fetus or fetuses are at increased risk for a single-gene disorder. This includes cases where there is no paternal screening, positive partner screening but no prenatal diagnostic testing available, or concern based on fetal ultrasound findings. Participants will have blood samples collected at 9 or more weeks of pregnancy, and newborn cheek swabs will be collected within six months after delivery. During the study, researchers will collect medical information from pregnant women and, in some cases, their reproductive partners. They will also gather genetic testing results or cheek swab samples from newborns. The main outcome measured is the performance of the sgNIPT assay in detecting the targeted single-gene disorders, with results expected about two years after the study launch. Participants will be monitored through blood draws, ultrasound findings, and newborn tests to assess the test's accuracy and safety.

Researchers are evaluating whether stereotactic body radiotherapy (SBRT) aimed at all sites of disease in adults with 1 to 5 metastatic cancer lesions can extend the time before their cancer worsens. This phase II randomized study focuses on patients with metastatic breast or non-small cell lung cancer, including those with specific molecular alterations or triple negative breast cancer, assessing the benefit of adding SBRT to their standard treatment. The study explores the potential of SBRT in combination with systemic therapies, considering patients who have newly diagnosed or stable metastatic disease under systemic treatment. Participants receive SBRT targeted at each metastatic lesion with doses tailored by the radiation oncologist, typically around 30 Gy in 3 to 5 fractions depending on the site. Preferred dosing regimens vary for lung and bone metastases, and the primary tumor or local disease may be treated with SBRT or conventional radiotherapy if needed. Standard systemic therapies, such as chemotherapy, targeted drugs, immunotherapy, or hormonal treatments, continue at the doctor’s discretion, with guidelines on temporarily holding chemotherapy or biologics during radiation. The study allows prior palliative radiation or treatment of brain metastases before enrollment. During the study, participants undergo imaging to confirm measurable disease and monitoring to assess progression-free survival up to two years. Researchers track the safety and effectiveness of SBRT combined with standard care, including evaluating organ function and performance status. Patients provide informed consent and meet criteria regarding disease sites and previous treatments to ensure suitability for SBRT. The study includes regular assessments to measure cancer control and monitor any side effects or complications from therapy.

Researchers are evaluating surgical and minimally invasive treatments for lumbar spinal stenosis (LSS) by comparing Medicare patients who received the MILD procedure against those who had interspinous process decompression (IPD). The study focuses on outcomes such as the rate of harms related to the initial procedure and the frequency of additional surgical or minimally invasive interventions within 24 months after treatment. Enrollment includes patients treated from January 1, 2017, onward, with continuation until the sponsor decides to stop. The MILD procedure involves percutaneous image-guided lumbar decompression, performed under fluoroscopy through a dorsal approach to partially remove tissue and bone at the affected spinal level. The control group receives the IPD procedure for LSS. Both groups are monitored for a 24-month period post-index procedure using Medicare claims data to track reoperations and any harms. Participants contribute data through Medicare claims without needing prior enrollment or consent, as the study is exempt from IRB oversight. Researchers collect and analyze information on procedure-related harms and subsequent interventions over two years. This approach allows evaluation of long-term safety and effectiveness outcomes for patients treated with either MILD or IPD.