Fatty Acid Oxidation Disorder

Researchers are evaluating the effects of Diaberine, a berberine-based nutraceutical, on blood sugar regulation and metabolism in adults with metabolism disorder. This randomized, triple-blind, placebo-controlled trial will study 80 participants aged 18 to 70 over 24 weeks to assess how well this dietary supplement may aid in these health areas. Participants will be randomly assigned to one of two groups. One group will take Diaberine capsules containing Vitamin B12, berberine, magnesium citrate, cinnamon bark extract, chromium, and other ingredients three times daily, 15 minutes before meals. The other group will take placebo capsules with similar appearance but without the active ingredients. Both treatments will continue for 24 weeks with regular monitoring. During the study, participants will have their blood sugar regulation and metabolism measured at baseline, week 12, and week 24. Additionally, quality of life and weight changes will be tracked at multiple points throughout the 24 weeks. Participants will be monitored through questionnaires, blood tests, and weight assessments to evaluate the supplements effects and tolerance over time.

Researchers are studying the safety and effectiveness of a single dose of nexiguran ziclumeran NTLA-2001 compared to a placebo in people with hereditary transthyretin amyloidosis with polyneuropathy ATTRv-PN. This phase 3, multinational, randomized, double-blind, placebo-controlled trial involves about 60 participants with this nerve disease and genetic condition affecting the peripheral nervous system. Participants will be randomly assigned to receive a single intravenous infusion of either nexiguran ziclumeran 55 mg or a placebo of normal saline. To give everyone a chance to receive the study drug, participants may switch to the other treatment group at either 12 or 18 months, depending on specific study criteria. The study is designed to compare the effects of the drug and placebo over time. During the study, participants will be monitored for nerve function using the Modified Neuropathy Impairment Score 7 mNIS7 over 18 months and blood levels of serum transthyretin at 29 days and 18 months. Quality of life, body mass index, and other health measures will also be evaluated. The study includes careful safety monitoring and will last up to 18 months with ongoing assessments to track participants nerve health and overall well-being.

This research aims to describe the characteristics, clinical outcomes, and event rates in participants with propionic acidemia PA, a rare metabolic disorder. It is a non-interventional, observational, global, multicenter study that collects data retrospectively from medical records to better understand PA over time. Data will be gathered by reviewing medical records from various study sites, including hospitals, clinics, and academic centers. Participants included will be those diagnosed with PA confirmed by genetic testing, with records documenting specific metabolic events. The study will cover up to 10 years of medical history and events. Participants involvement consists of allowing researchers to review their medical records to collect information about metabolic decompensation events, hospitalizations, and urgent healthcare visits related to PA. Researchers will analyze the number and severity of these events, along with hospitalization data, to understand PAs clinical impact. The study does not involve direct treatment or interventions and focuses on data collection and analysis.

This research aims to evaluate the long-term safety of mRNA-3927 in people with propionic acidemia PA who previously took part in the mRNA-3927-P101 study. It is a phase 12, open-label extension study focusing on monitoring safety and clinical activity over an extended period. Participants will continue receiving mRNA-3927 at the same dose and schedule they had in the earlier study, with dose adjustments possible based on the sponsors recommendation. The study includes two main periods a treatment period where participants receive the study drug, followed by a 90-day follow-up period after the end of treatment. During the study, researchers will monitor participants for adverse events, serious side effects, and any events leading to stopping treatment. They will also track metabolic decompensation events and hospitalizations related to PA over up to eight years. Participants will have regular assessments to evaluate these outcomes and ensure ongoing safety throughout the study duration.

Propionic acidemia is a rare genetic metabolic disorder caused by mutations in the PCCA gene leading to loss of function in the mitochondrial enzyme propionyl-CoA carboxylase. This results in buildup of toxic substances causing symptoms like metabolic acidosis, vomiting, lethargy, cognitive impairment, and risk of death. This trial evaluates a gene therapy using an adeno-associated virus AAV to deliver a healthy copy of the PCCA gene to treat children with genetically confirmed propionic acidemia. The study tests three different single intravenous doses of AAVrh10-PCCA gene therapy in young children aged 6 months to 2 years. Doses include low 2 x 1012 vgkg, middle 8 x 1012 vgkg, and high 3.2 x 1013 vgkg amounts given to separate groups of three patients each. The gene therapy uses a viral vector to introduce the human PCCA gene to potentially restore enzyme function. Participants are closely monitored for safety and treatment effects for up to seven years after infusion. Researchers observe adverse events and conduct follow-up visits to evaluate the therapys impact. Parents or guardians must attend all assessments and consent to their childs participation. This long-term monitoring aims to better understand safety and potential benefits of this gene therapy for propionic acidemia.

Researchers are evaluating how different medium-chain triglyceride MCT formulations affect beta-hydroxybutyrate levels, lipid metabolism, and glucose responses in healthy adults aged 18 to 40. The study aims to compare natural MCTs from coconut oil, synthetic MCTs, and long-chain triglycerides LCTs to understand their metabolic impacts and whether the form of consumption influences these effects. Participants consume five different lipid-based test products, including beverages and powders containing MCTs or LCTs, as well as an MCT biscuit. Each product is given in amounts adjusted to provide a lipid dose of 0.5 gkg body weight, with a randomized order and a washout period of at least 7 days between visits. Blood samples are collected for up to five hours after each intake to measure metabolic responses. During study visits, participants fast overnight before consuming each test product. Researchers monitor postprandial beta-hydroxybutyrate concentrations, glucose, triglycerides, fatty acid profiles, ghrelin levels, and subjective appetite using visual scales. The study assesses these responses over multiple visits, providing detailed insight into how different lipid formulations affect metabolism over time.

Researchers are collecting both short-term and long-term safety information from adults and children treated for hyperammonemia caused by Methylmalonic Acidemia MMA and Propionic Acidemia PA. This observational study focuses on patients receiving Carbaglu4 as part of their usual medical care, aiming to understand the effects of this treatment in real-world settings. Participants will be treated according to standard medical practices, receiving Carbaglu4 as prescribed by their doctors. The study gathers data on patients treated either as outpatients or inpatients, including details about Carbaglu4 dosing, other treatments for hyperammonemia like diet and protein management, and pregnancy-related outcomes. Data collection continues for about one year after stopping Carbaglu4. During the study, researchers will review plasma ammonia levels and record any adverse events, including their frequency and severity. They will also collect information on pregnancy outcomes and effects on infants up to one year old. No additional treatments or interventions are administered beyond routine care. This allows for monitoring safety and developmental outcomes over time in this patient group.

Researchers are investigating whether people with certain inherited ammonia metabolism disorders can successfully measure their ammonia levels daily at home. The study focuses on understanding participants ability to regularly use a new ammonia measurement device and complete daily health monitoring. This research aims to improve management of conditions like urea cycle disorders and other metabolic diseases that affect ammonia processing in the body. Participants will use an investigational ammonia device that measures total ammonia from a single drop of blood using a reusable instrument and single-use cartridge. They will be asked to measure their ammonia levels daily, along with temperature, heart rate, and blood oxygen. The study includes two in-person clinic visits and an optional extension period, with monitoring lasting approximately 240 days, extendable by another 120 days. During the study, participants will complete daily surveys and record their health measurements to help researchers track adherence and gather data. The main outcome measured is the percentage of daily ammonia tests completed. Researchers will also analyze descriptive statistics and correlations over the study period to better understand home monitoring feasibility and patterns. Participants involvement lasts around 8 months, with optional continued participation for an additional 4 months.

Researchers are studying the health and well-being of adult caregivers who provide informal, unpaid care to people with chronic medical conditions. The study aims to understand how the stress of caregiving affects caregivers over time, including social, psychological, behavioral, and biological factors. It also includes a bereavement component for families who experienced the death of their care recipient. Participants will be grouped and asked to complete various activities over one year, with the option to repeat annually for up to five years. These activities include online surveys about their health, caregiving experiences, and social support networks two-part phone interviews about caregiving and life events optional weeklong diaries every three months about daily activities and stress and optional annual blood samples to study biological markers. During the study, participants will provide information through surveys, interviews, diaries, and blood samples to help researchers measure changes in caregiving burden and related factors. The study tracks these outcomes annually and quarterly to learn about the natural history of caregiver stress. Participants ability to consent and English fluency are required to complete assessments, with ongoing monitoring throughout the study period, which may last up to five years.

Researchers are studying children and young adults with life-threatening blood cancers and non-malignant blood disorders who do not have a matched related donor for allogeneic transplantation. This phase 2 trial aims to investigate the treatment-related mortality one year after receiving a myeloablative cord blood transplant. The study focuses on both malignant and non-malignant hematologic conditions to better understand outcomes in this vulnerable population. Participants with malignant disorders receive chemotherapy drugs including clofarabine, fludarabine phosphate, and busulfan before the transplant. They also receive immune suppression drugs tacrolimus and mycophenolate mofetil starting several days before the transplant to help prevent graft versus host disease GVHD. Patients with non-malignant disorders receive additional treatments such as rituximab and rabbit anti-thymocyte globulin before chemotherapy and transplant. All patients undergo cord blood transplantation on day 0, followed by supportive care including filgrastim injections to aid blood cell recovery and additional rituximab for non-malignant cases. Throughout the study, participants have regular blood tests, and imaging scans including computed tomography CT and positron emission tomography PET to monitor their condition. Researchers track treatment-related mortality and recovery over one year after the transplant. The study involves careful monitoring of organ function, immune response, and overall health status. Participants may have medication adjustments based on their response, with the goal of understanding safety and outcomes in this treatment approach.