Alagille Syndrome

This research aims to observe patients with Alagille syndrome ALGS, a rare liver disease causing itching, as they use the medicine odevixibat Bylvay in their daily lives. The study focuses on evaluating the long-term effectiveness and safety of odevixibat in patients who are already receiving this treatment. It seeks to understand how well the medicine performs over time and monitor important health outcomes related to ALGS. Participants in this study are those diagnosed with ALGS who are either currently on odevixibat treatment or starting it. The study collects data over approximately five years, tracking outcomes such as the need for biliary diversion surgery or liver transplantation, survival without these interventions, and overall survival. Researchers will also monitor changes in weight and height, as well as any adverse events linked to vitamin deficiencies, liver problems, bleeding, or other side effects related to the medicine. During the study, participants will have their health status and treatment effects recorded regularly. This includes monitoring surgery-free and transplant-free survival rates alongside overall survival. Safety information covering side effects and vitamin-related issues will be collected from the start of consent through 180 days after the last dose of odevixibat. The study aims to gather comprehensive, long-term data on how patients fare while using this medication in real-world settings.

Researchers are observing patients with Alagille Syndrome ALGS, a rare liver condition that causes itching, who are using the medication odevixibat in their daily lives. The main goal is to monitor the long-term safety of odevixibat in patients receiving ongoing treatment for ALGS. This is a non-interventional observational study focused on collecting real-world safety information. Participants in this study continue their regular odevixibat treatment as prescribed by their healthcare providers. The study does not involve changing or administering treatments but follows patients over approximately five years to gather safety data. Researchers will track various health aspects, including adverse events, liver function tests, vitamin levels, and hospitalizations related to diarrhea, hepatotoxicity, and vitamin deficiencies. Throughout the study, participants will have their health monitored at regular intervals to assess safety outcomes. Data collected include reports of adverse events, changes in liver enzymes, vitamin deficiencies, and any hospitalizations or treatment discontinuations related to side effects. The study aims to provide a comprehensive picture of how odevixibat affects patients over the long term while they receive usual care for ALGS.

Researchers are studying hepato-renal fibrocystic diseases HRFD, which include rare conditions like Autosomal Recessive Polycystic Kidney Disease ARPKD, Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, congenital hepatic fibrosis, Caroli syndrome, oro-facial-digital syndrome, nephronophthisis, and glomerulocystic kidney disease. The study aims to create a coordinated clinical and genetic database to improve diagnosis, treatment, and research progress by sharing information and biological samples among institutions. Participants can contribute to a clinical database by allowing access to their medical records, which will be anonymized and entered into a shared database. Optional parts of the study include genetic testing through blood or saliva samples from the participant and their parents, as well as donating tissue samples collected during medical procedures or autopsies. These samples will be stored in specialized repositories to support future research. Participants will have their medical records reviewed periodically, with initial data entry and annual follow-ups for the duration of the study or until they choose to withdraw. Genetic and tissue samples will be processed and stored securely. The main outcome is the development and maintenance of a comprehensive translational resource for HRFD over five years. The study does not require clinic visits and involves minimal participant burden while contributing valuable data and materials for ongoing research.

This research aims to improve genetic health for underserved children with rare disorders living along the Texas-Mexico border. It focuses on providing easier access to genetic evaluation and testing for Hispanic minority pediatric patients who often lack these services. The study seeks to shorten the time it takes to diagnose rare genetic diseases and enhance healthcare provider knowledge through education and machine learning support. Participants will receive virtual genetics evaluations through a web-based platform called Consultagene, designed to simplify patient pathways and deliver care remotely in the Rio Grande Valley. All 200 recruited children will undergo whole genome sequencing WGS to detect genetic variants, including copy number variations and single nucleotide variants, which may aid in medical decision-making. The study also aims to build genomic competency among frontline healthcare providers to speed up referrals. Throughout the study, researchers will monitor how long it takes to reach a diagnosis within 12 months. Participants genetic data and diagnostic results will be collected and interpreted to support clinical care. The study involves ongoing education and machine learning tools to improve referrals and outcomes. Participation extends from enrollment through virtual evaluations, genetic testing, and follow-up over the study period ending in January 2027.

Researchers are evaluating the long-term safety, tolerability, and effectiveness of Livmarli in patients with Alagille Syndrome ALGS and Progressive Familial Intrahepatic Cholestasis PFIC. The study focuses on monitoring potential liver toxicity and the impact of chronic exposure to propylene glycol in PFIC patients, as well as assessing growth and development over time. This is a phase 4, open-label, low-intervention clinical study conducted across multiple centers in the European Union. Participants diagnosed with ALGS or PFIC will be treated with Livmarli according to standard care throughout the study. The study includes a primary cohort of at least 45 previously untreated ALGS patients and supplemental cohorts of ALGS patients already on Livmarli, along with at least 130 PFIC patients receiving Livmarli. Treatment will continue for the study duration with no placebo group, and patient care follows usual clinical practice. During the study, participants will undergo regular assessments every 3 to 4 months for up to 5 years. These assessments include monitoring adverse events, liver function tests, fat-soluble vitamin levels, international normalized ratio, clinical outcomes, and propylene glycol toxicity for PFIC patients. The study aims to collect long-term data on safety and clinical outcomes while patients remain on Livmarli treatment, with participation potentially lasting several years.

This research aims to evaluate the long-term safety and clinical outcomes of patients with Alagille syndrome ALGS or Progressive familial intrahepatic cholestasis PFIC who are treated with Livmarli. The study is a 5-year, prospective, observational cohort trial designed to monitor these patients in the United States. Livmarli is a novel drug that reduces bile acid levels by inhibiting the ileal bile acid transporter and has been approved for treating cholestatic pruritus in ALGS and PFIC patients of certain ages. Participants prescribed Livmarli and diagnosed with ALGS or PFIC will be observed over five years. Two dosing schedules are noted 380 mcgkg once daily and 570 mcgkg twice daily. The study includes regular assessments of liver transplant waitlist status every six months and annual evaluations of growth and development. The treatment is given as prescribed by healthcare providers, and the study collects data without altering the prescribed therapy. During the study, participants will have their long-term clinical outcomes monitored, including events up to 180 days after stopping Livmarli. Data on liver transplant indications, growth measurements like weight and height z-scores, and events related to fat-soluble vitamin deficiencies will be collected at specified intervals. The trial aims to provide comprehensive safety and outcome information over the full 5-year period.

Researchers are conducting a patient registry and natural history study called Coordination of Rare Diseases at Sanford CoRDS to support research on rare diseases. CoRDS is an international registry that connects patients with rare, undiagnosed, or uncommon diseases to researchers studying over 7,000 rare diseases. This program aims to help advance treatments and cures by facilitating easy collaboration between patients, advocacy groups, and researchers. It is based at Sanford Research in Sioux Falls, South Dakota, and is free for patients to join and for researchers to access. Participants provide contact, sociodemographic, and health information, which is entered into CoRDS and linked to a unique coded identifier. Examples of collected data include name, mailing address, phone number, email, date and place of birth, sex, gender, ethnicity, family history, and diagnosis-related information. De-identified information may be shared with approved researchers after review by an Institutional Review Board and expert panel. Some data may also be shared with other databases and patient advocacy groups, with protections to prevent misuse for research purposes. Participants are contacted yearly to confirm continued participation and to update their information. If a parent or legal guardian consents for a minor, the participant will be contacted at age 18 to provide their own consent. The primary goal is to accelerate research by connecting individuals interested in rare disease research with scientists over a long period of up to 100 years. There is no treatment given, as this is an observational registry study.

Researchers are evaluating the safety and effectiveness of VDPHL01, an investigational oral drug, in female subjects with Androgenetic Alopecia AGA, a genetic condition causing hair loss due to an excessive response to hormones called androgens. This Phase 3, multi-center, double-blind study aims to better understand treatment outcomes for women aged 18 to 65 with mild to moderate AGA. The study is sponsored by Veradermics, Inc. and includes about 13 months of participation with 11 scheduled visits. Participants will be randomly assigned to one of several groups receiving different regimens of VDPHL01 or placebo. Some groups take VDPHL01 twice daily BID for the entire 12 months, while others begin with placebo or a combination of VDPHL01 once daily QD and placebo before switching treatments after 6 months. The study maintains a double-blind design, meaning neither participants nor researchers know who receives the active drug or placebo during the first 6 months. Throughout the study, participants will attend visits for screening, baseline assessment, and follow-ups at weeks 2, months 1, 2, 4, 6, 8, 10, 12, and 13. Researchers will evaluate hair counts in target areas at 6 months and participants own assessment of treatment benefit. Participants agree to maintain consistent hair length, style, and color, and will have a small tattoo placed on their scalp for photographic monitoring. Safety and treatment effects will be carefully monitored during the study period.

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.