Barth Syndrome

This trial studies males aged 5 to 55 years with genetically confirmed Barth Syndrome BTHS, a rare condition affecting muscles and heart function. It is a Phase 3b4 randomized, double-blind, placebo-controlled clinical trial designed to confirm the effectiveness and safety of elamipretide, a drug approved in the US under the name FORZINITY11, for improving muscle strength in both adults and children with BTHS weighing at least 30 kg. The study aims to verify its impact on knee extensor muscle strength, an important clinical measure. Participants will receive either a daily subcutaneous injection of elamipretide or a matching placebo for 72 weeks. The study compares these two groups to evaluate the drugs pharmacokinetics, safety, and efficacy over this period. Elamipretide is administered via sterile multi-dose vials, and the trial follows a parallel design with random assignment to treatment arms. During the trial, participants undergo various assessments including echocardiograms to measure heart function, functional tests, and evaluations of muscle strength. Researchers will monitor safety, drug effects, and adherence throughout the 72-week treatment. The main outcome is effectiveness at 72 weeks, with additional secondary endpoints also evaluated. The study is sponsored by Stealth BioTherapeutics Inc. and continues to monitor participants until late 2029.

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 participants 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.

This research aims to create a global registry for mitochondrial disorders to unify previous national registries, allowing worldwide participation and supporting studies on the natural history of these diseases. The project is part of the EU-funded GENOMIT initiative, coordinated by Dr. Holger Prokisch at Technische Universitt Mnchen, and intends to improve the design and execution of clinical trials while promoting the translation of basic research into clinical practice. The study collects data from existing networks such as mitoNET in GermanyAustria and Mitocon in Italy, with the possibility of including other countries. Participants with suspected or confirmed mitochondrial diseases are followed with annual assessments using standardized scales like the Newcastle Mitochondrial Disease Scale for Adults and Children, the Scale for the Assessment and Rating of Ataxia, and measures of disease progression. Participants are monitored over a long period, up to 30 years or until discontinuation or death. Annual evaluations assess disease status and progression. The registry complies with national ethics and data protection rules, managing data access accordingly. This setup aims to support natural history studies and facilitate future clinical trials for mitochondrial disorders worldwide.

Researchers are evaluating a new family health communication tool called Lets 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 Lets 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 tools 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.