Zellweger 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.

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.

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.

Researchers are studying Peroxisome Biogenesis Disorders (PBD), a group of inherited conditions caused by defects in peroxisome assembly that lead to complex developmental and metabolic problems. The natural history of these disorders is not well understood, and the study aims to better define the clinical, biochemical, and genetic characteristics of affected individuals. This observational study follows patients from Canada, the US, and internationally to improve understanding and management of PBD. Participants may be seen yearly at the McGill University Health Centre in Montreal for consultations in genetics, nutrition, neurology, and ophthalmology, including special eye exams (OCT and FAF). Medical records and images such as ultrasounds, X-rays, MRIs, CT scans, and ophthalmic images are collected both retrospectively and prospectively for up to 10 years. Biospecimens are collected to identify new biomarkers, and candidate drugs are evaluated in laboratory tests. Throughout the study, medical data and images are entered anonymously into a database and carefully monitored. Researchers review clinical findings annually, assess peroxisome function, track disease complications, and study genotype-phenotype correlations. The study also aims to develop care guidelines for adolescents and adults with PBD. Participants' involvement can last up to 10 years, with ongoing collection of medical information and evaluation of disease progression and management.

This research aims to understand how retinal degeneration progresses in patients with Zellweger Spectrum Disorder (ZSD). The study will evaluate which tests best track this progression and gather information to predict vision loss in this patient group. It is an observational study focused on following participants over time to learn more about their eye health related to ZSD. Participants will take part in yearly visits where they will complete vision-related questionnaires and undergo a wide range of vision tests. These tests include refraction, visual acuity, contrast sensitivity, visual fields, color vision, eye exams, pupil dilation, microperimetry, fundus photography, optical coherence tomography, and others that assess different aspects of retinal health and function. Blood samples will also be taken to analyze peroxisome function. Before the first visit, a virtual interview will help determine which tests each participant can perform. During the study, participants will be evaluated annually with detailed eye exams and questionnaires about their functional vision. Researchers will collect medical history and conduct physical exams and blood tests to support their assessments. The main outcomes measured over five years include the number of participants showing retinal degeneration progression and common patterns observed. The study will provide financial support for travel and accommodation to attend these visits, with the total study duration spanning multiple years to monitor changes over time.

Researchers are evaluating a reduced-intensity conditioning (RIC) regimen for patients with non-malignant disorders who need a hematopoietic stem cell transplant (HSCT). This study focuses on diseases such as thalassemia, sickle cell disease, primary immunodeficiencies, metabolic disorders, and other inherited conditions. The goal is to assess if RIC before transplant can improve outcomes by reducing complications and transplant-related mortality compared to the standard myeloablative conditioning. The treatments being studied include a conditioning regimen with Alemtuzumab, Hydroxyurea, Fludarabine, Melphalan, and Thiotepa given before stem cell transplants from umbilical cord blood, bone marrow, or peripheral blood stem cells. Two groups are involved: one receiving double cord blood transplants for transfusion-dependent anemia or higher rejection risk, and another receiving bone marrow or peripheral blood transplants. The study uses lower chemotherapy doses to prepare patients, aiming to help donor stem cells engraft successfully while decreasing side effects on organs. Participants will be monitored for transplant success and side effects over time, including immune recovery, rates of infections, graft-versus-host disease, organ toxicity, and neurodevelopmental progress for up to one year after transplant. Researchers will also track donor cell engraftment and blood counts. The total participation may last several months to years, with follow-up visits to evaluate long-term outcomes and transplant effectiveness.

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.

Researchers are collecting and analyzing clinical information and biological samples from people worldwide who have leukodystrophies, a group of genetic white matter brain disorders. The study aims to improve understanding of these diseases, find new genetic causes, develop biomarkers, and track the natural history of leukodystrophies to support future research and treatment development. This project is one of the largest biorepositories for leukodystrophy patients, with nearly 2,000 participants enrolled over more than ten years. Participants include individuals with suspected or confirmed leukodystrophies or related genetic white matter disorders, as well as healthy controls. The study involves collecting clinical data, standardized assessments, and biological samples to achieve multiple goals, such as defining new patient groups, evaluating next-generation genetic testing, understanding disease mechanisms, and following patients' care and outcomes over time. Consent and assent are required for participation, and participants may be contacted for future studies. During the study, researchers gather clinical information, imaging data, and biological samples to track disease progression and care over a period of up to ten years from enrollment. The main outcome is to identify new homogeneous patient groups with unclassified leukodystrophies. Secondary outcomes include evaluating genetic testing methods, understanding disease biology, and maintaining contact with participants for ongoing research. Participation involves providing data and samples and completing assessments to help advance diagnosis and treatment for leukodystrophy patients globally.