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 supplement's 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 (mNIS+7) 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 PA's 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 1/2, 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 sponsor's 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.

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 exploring how the stress of caregiving affects the health and well-being of adults who care for people with chronic medical conditions. This observational study aims to understand the social, psychological, behavioral, and biological factors involved in caregiving over time, including during and after the death of the care recipient. The study includes caregivers of various chronic conditions such as inherited metabolic disorders, undiagnosed diseases, Batten's disease, Tay Sachs, and diabetes. Participants may be grouped as active caregivers or bereaved caregivers who have lost their care recipient. Over one year, and possibly up to five years, participants will complete online surveys about their health, caregiving experiences, and social support networks. They will also take part in two-part phone interviews about their caregiving and social connections. Some may keep a diary every three months to record daily social activities, stress, and feelings. Blood samples may be collected annually for biological analysis. During the study, participants will provide information through surveys, interviews, and diaries, with some giving yearly blood samples. Researchers will assess changes in social, psychological, behavioral, and biological factors related to caregiving. The primary outcome is to track the natural history of caregiver stress over time. Participation involves various tasks and assessments done online or by phone, with follow-ups possible for up to five years to understand long-term effects.

Researchers are evaluating the effects of a new herbal formulation called Melats P for women with Polycystic Ovarian Syndrome (PCOS), a common metabolic disorder affecting women of childbearing age. PCOS causes problems such as hormonal imbalance, irregular ovulation, infertility, obesity, excessive hair growth, acne, and metabolic issues like insulin resistance and type 2 diabetes. This study aims to compare the herbal formulation against conventional treatment and their combination in improving infertility and menstrual cycle regulation in women with PCOS. Participants will be divided into three groups: one receiving the herbal formulation Melats P at 500 mg twice daily, another receiving Metformin XR 750 mg twice daily, and a third group receiving both treatments together. Each treatment is given for 4 months. The herbal formulation contains plant-based ingredients chosen for their potential to restore hormonal balance and improve ovulation with fewer side effects compared to standard drugs. The study includes a phase 1 clinical trial design with randomized assignment and no masking. During the study, participants will have their menstrual cycle regulation monitored from baseline to 4 months. Additional assessments include blood tests for hormones such as follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone, as well as metabolic measures like glycated hemoglobin (HbA1c), fasting insulin levels, insulin resistance (HOMA-IR), and body weight. These evaluations will occur at the start and after 4 months of treatment to assess safety and effectiveness. The total participation duration is approximately 4 months, with the study scheduled to start in February 2025 and end by March 2026.

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.

Researchers are collecting clinical data from patients with various non-malignant disorders undergoing hematopoietic stem cell transplantation (HSCT) using a reduced-intensity chemotherapy-based regimen. This regimen includes alemtuzumab and other drugs and aims to reduce graft failure and help immune system recovery. The study follows patients with conditions like primary immunodeficiency, inherited metabolic disorders, hereditary anemias, and inflammatory diseases to better understand treatment outcomes. Participants will receive one of three types of stem cell transplants: umbilical cord blood, bone marrow, or peripheral blood stem cells. All receive a reduced-intensity conditioning regimen that involves alemtuzumab, melphalan, thiotepa, fludarabine, and hydroxyurea, administered according to the treating physician's guidance at the UPMC Children's Hospital of Pittsburgh. This observational study gathers medical data without altering standard care. During the study, researchers will monitor outcomes such as the occurrence of acute graft versus host disease (GVHD) and overall survival for up to five years after transplantation. They will also assess engraftment levels, the timing of immune system recovery, the use of immunosuppressant medications, and donor leukocyte infusions. Medical information will be collected from patients' charts after informed consent, with follow-up extending up to five years to evaluate long-term results.