Barth Syndrome

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.

Primary Mitochondrial diseases are a group of disorders caused by mutations in genes from nuclear DNA or mitochondrial DNA, affecting one or multiple organs. Pearson Syndrome is one such mitochondrial disease that can present with various symptoms and progresses over time. This Phase II open-label study evaluates the safety and therapeutic effects of MNV-201, a cell therapy developed by Minovia Therapeutics Ltd., designed to treat patients diagnosed with Pearson Syndrome. MNV-201 is made by enriching a participant's own CD34+ hematopoietic stem and progenitor cells with mitochondria derived from donated placental tissue. The study involves a single intravenous infusion of these enriched cells. Participants undergo mobilization and leukapheresis to collect their cells, which are then processed and infused back. The trial monitors treatment effects over months and includes follow-ups up to 24 months after treatment. Participants will be involved in regular assessments including monitoring treatment-related adverse events for 12 months and measuring height standard deviation scores (SDS) at 12 and 24 months, plus kidney function through calculated glomerular filtration rate slope over 24 months. The study includes evaluations of growth and safety, requiring participants to have prior growth and kidney function data for at least 12 months before treatment. Parent or guardian consent and ongoing cooperation with study visits and assessments are essential during the trial period.

Researchers are conducting a global registry and natural history study to improve understanding of mitochondrial disorders. This project aims to combine existing national registries into a worldwide network to support natural history studies, define outcome measures, and facilitate future clinical trials. It is part of the EU-funded GENOMIT project, coordinated by Dr. Holger Prokisch at the Technische Universität München, and helps translate basic research into clinical practice. The study includes patients with suspected or confirmed mitochondrial diseases from various networks such as mitoNET in Germany and Austria, and Mitocon in Italy. Other countries and networks are welcome to join the registry, which helps reduce time, effort, and costs for participants and researchers. This observational study collects data without providing experimental treatments. Participants are followed with yearly assessments using scales like the Newcastle Mitochondrial Disease Scale for Adults and Children, and the Scale for the Assessment and Rating of Ataxia. These assessments continue annually for up to 30 years or until participants discontinue or pass away. The study tracks disease progression over time to better understand mitochondrial disorders and prepare for clinical trials.

Researchers are evaluating a new family health communication tool called Let's Get REAL designed to increase youth involvement in real-time decisions about stem cell transplant and cellular therapy (SCTCT). This pilot trial focuses on pediatric patients aged 8 to 17 years who are referred for SCTCT due to malignant or nonmalignant disorders. The study aims to assess the feasibility, acceptability, and appropriateness of this communication tool in helping families discuss treatment decisions. Participants, including youth in two age groups (8-12 and 13-17 years) and their parents, will receive the Let's Get REAL tool to use up to one month before their SCTCT consultation visit. They will complete surveys before using the tool, up to one month after the consultation, and up to one month post-discharge from SCTCT. The consultation visits will be audio-recorded, and participants may opt to take part in a semi-structured interview within eight weeks after the consultation. During the study, participants will provide demographic and baseline information and complete several questionnaires measuring decision-making involvement, anxiety, communication, and satisfaction. Researchers will analyze both quantitative survey data and qualitative feedback to evaluate the tool's impact. The total study participation spans from before the consultation through up to eight weeks after, with ongoing monitoring of youth-parent communication and decision-making processes.

Calciphylaxis, also called uremic calcifying arteriolopathy (UCA), is a rare condition causing painful skin lesions due to small blood vessel calcification and clotting. This disease mainly affects patients with end-stage renal disease (ESRD) who require hemodialysis. Researchers are evaluating the safety and effectiveness of adding rheopheresis, a special blood filtration treatment, to the standard care for calciphylaxis in these patients through a prospective randomized controlled trial. In this study, participants will be randomly assigned to one of two groups. The experimental group will receive rheopheresis in addition to standard care, involving an induction phase of 3 sessions in the first week followed by 2 sessions weekly for 3 weeks, then a maintenance phase with 1 session per week up to week 11. The comparator group will receive sham-apheresis sessions on the same schedule, which mimics the procedure without actual filtration. Rheopheresis uses a machine to remove certain high molecular weight proteins from plasma to help treat microcirculation problems. Participants will be followed for 12 weeks during treatment with regular assessments of wound healing, pain levels, quality of life, antibiotic usage, hospital discharge days, survival, and inflammatory protein changes. The primary outcome is the percentage of patients achieving complete healing of calciphylaxis lesions after 12 weeks. Secondary outcomes include partial healing, new lesion occurrence, pain and analgesic use, and overall survival at 12 weeks and one year. Safety and efficacy data will help determine the added value of rheopheresis in calciphylaxis care.