Fatty Acid Oxidation Disorder

This randomized, triple-blind, placebo-controlled study will evaluate the efficacy of Diaberine, a berberine-based nutraceutical, in aiding blood sugar regulation and metabolism in 80 participants over 24 weeks.

This is a multinational, multicenter, double-blind, placebo-controlled study in approximately 60 participants, who will be randomized 1:1 to receive a single infusion of either nexiguran ziclumeran or placebo. To ensure all participants will have the potential to receive nexiguran ziclumeran, participants will have the option to cross over to the opposite study arm at Month 12 or Month 18, depending on study criteria.

Data will be abstracted through medical record review ensuring inclusion only of data from participants meeting all the inclusion criteria and none of the censoring criteria. Data will be collected retrospectively from study sites, including medical clinics, hospitals and academic medical centers.

The study will assess long-term safety of mRNA-3927. Participants with PA who were previously enrolled and completed the end-of-treatment (EOT)/early termination (ET) visit of the mRNA-3927-P101 study will have the option to enroll into this extension study provided all eligibility criteria have been met. The study will include 2 periods: 1) Treatment Period and 2) Follow-up Period (90 days after the EOT visit). All participants will enter the study receiving mRNA-3927 at the same dose and at the same dosing interval last received in the mRNA-3927-P101 study.

This study is being conducted to obtain short-term and long-term clinical safety information from adult and pediatric patients treated for hyperammonemia due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA). This is an observational/non-interventional study. Patients will be treated per the prescribing information and routine medical practice. Only available data will be collected as part of the study including developmental outcomes, details of treatment with Carbaglu® and other treatments for hyperammonemia including dietary and protein management, plasma ammonia levels, pregnancy and maternal complications, adverse effects on the developing fetus and neonate, adverse effects on the infant through first year of life.

Study Description: Caregivers will be invited to participate in surveys and interviews to assess their cognitions and emotions about caregiving, caregiving burden, and caregiving or support network systems during the life of the Care Recipient. The study will also include a bereavement component, in which families who have experienced the death of a Care Recipient may choose to participate. In addition, biomarkers may be evaluated in consenting individuals to assess genetic susceptibility to stress and stress-related dysregulations in the endocrine and immune systems. Objectives: The primary objective of this study is to investigate the natural history of family caregiver stress over time, providing opportunity to understand the social, psychological, behavioral, and biological factors that characterize caregivers response to long-term caregiving during the life and after death of a Care Recipient with a chronic medical condition. Endpoints: To assess the change over time in terms of social, psychological, behavioral, and biological factors associated with caregiving.

Polycystic Ovarian Syndrome is a point of concern these days in female population around the world.The patients feel psychological and mentally unhealthy. PCO effects around 6- 14% of women worldwide. PCOS is characterized by hormonal dis-regulation and hyperinsulinemia. Improvements in sex hormones and insulin sensitivity in PCOS women, either through lifestyle changes or through pharmaceutical intervention, have consistently resulted in a marked improvement in the reproductive and metabolic abnormalities in PCOS Commonly prescribed treatment for PCOS include oral contraceptives (OCPs), metformin, pioglitazone, estrogen, GnRH agonist, myo-inositol, letrozole and clomiphene citrate. Despite their effectiveness in symptom relief and ovulation induction, these treatments are associated with adverse effects including weight gain, cardiac issues, lactic acidosis, dysmenorrhea, and abdominal discomfort (Hussain et al., 2022). Given the limitations of conventional drugs, Herbal therapies are gaining attention for their multi-targeted ability to restore natural hormonal balance, improve ovulation and offer symptom relief with minimal side effects (Hussain et al., 2022). In this context, the present study is designed to explore the therapeutic benefits of a novel polyherbal formulation that includes Momordica charantia L., Linum usitatissimum, Symplocos racemose bark, Allium cepa L., Tribulus terrestris, and eggshell. These ingredients were selected based on their various pharmacological properties that are relevant to the pathophysiology of PCOS. This study will evaluate the safety and effectiveness of Melats P in achieving a successful menstruation regulation in PCOS women.We will recruit 3 groups , First group with conventional treatment (Metformin ) , Second with Alternative medicine having a herbal Formulation ( Melats P) and Third group patients will receive both Conventional (Metformin) and Herbal Formulationn (Melats P).

This is a single-arm study to investigate 1-year treatment related mortality (TRM) in patients with life threatening non-malignant and malignant hematologic disorders who do not have a matched related donor for allogeneic transplantation.

Hematopoietic stem cell transplantation (HSCT) from a healthy donor can cure or alleviate a broad spectrum of non-malignant disorders (NMD). Although reduced-intensity conditioning (RIC) regimens promise decreased treatment-related morbidity and mortality, graft failure and infections are limiting the use of RIC in chemotherapy-naive patients. Dr. Szabolcs have completed several trials to evaluate a novel RIC regimen of alemtuzumab, hydroxyurea, fludarabine, melphalan, and thiotepa. The last trial at UPMC Children's Hospital of Pittsburgh of a highly effective and biologically rational chemotherapy-based RIC regimen paired with simple alemtuzumab dosing strata was tested and resulted in outstanding survival and remarkably low rates of graft failure. The favorable outcome described may serve as a toxicity and efficacy reference for emerging gene therapy strategies as well. This prospective collection of clinical data will allow the investigators to further assess engraftment, GVHD, immunosuppressant use and overall survival in this patient population.

The primary clinical objective of the clinical study is to determine and compare cardiac microstructural phenotypes by cardiac MRI in patients and healthy controls and their relationship to cardiac structure/function with our MRI technologies. Aim 1: What are the myocardial microstructure phenotypes in both patients with cardiovascular disease and healthy cohorts? Are they linked to other prevalent macro structure and functional abnormalities? The hypothesis is that the investigators can develop the next generation cardiac MRI exam that is faster, more robust, and more efficient for clinic use. The enrolled subjects will do ONE of the following: • Receive an extended clinical cardiac MRI exam. An MRI is an imaging technique used in radiology to make an accurate picture of the body. In this study the investigators will be focusing on the heart. The participant's routine clinical cardiac MRI exam will be extended by up to 25 min to perform a truncated research cardiac MRI protocol. The extended clinical cardiac MRI will take approximately one hour in total. The investigators may review the medical records to follow-up their medical status up to 5 years after start of the study. OR: • Receive a research cardiac non-contrast MRI exam. An MRI is an imaging technique used in radiology to make an accurate picture of the body. In this study the investigators will be focusing on the heart. The research cardiac MRI will take approximately one to two hours in total. The investigators may review the medical records to follow-up their medical status up to 5 years after start of the study Optionally, if the subjects agree, the blood samples will be collected: • Give blood sample for research purpose only. The blood draw is used to correlate the clinical blood biomarkers to the cardiac MRI data to help us better understand and validate the clinical utility of the novel cardiac MRI techniques. The blood draws should approximately take 20 minutes. The blood draw will take place in the doctor's office or at Mellen center private preparation by a registered nurse or approved technician. The blood will be stored with a unique code at Cleveland Clinic BioRepository for up to 10 years, and disposed following Cleveland Clinic guidelines. It may be used for future research in the Cleveland Clinic. Only members of the research team will have access to the participant's samples. For healthy control: • Only one cardiac MRI is needed, and it will be non-contrast MRI.