Alagille Syndrome

This research aims to observe the long-term effects and safety of the medicine odevixibat (Bylvay) in patients with Alagille syndrome (ALGS), a rare liver disease that causes itching. The study focuses on patients who are already receiving or starting treatment with odevixibat to better understand its everyday use and impact over time. Participants will continue their usual odevixibat treatment while researchers collect information over approximately five years. The study does not assign treatments but observes patients as they take odevixibat in real life, tracking any need for biliary diversion surgery, liver transplantation, and overall survival. During the study, participants will be monitored for changes in weight and height, adverse events related to vitamin deficiencies, liver toxicity, bleeding, and other side effects. Data collection will include ongoing assessments starting from the first dose through the study duration and safety follow-up up to 180 days after the last dose. This long-term observation will help understand the drug's effectiveness and safety in everyday practice.

Researchers are building a comprehensive registry for Hepato-Renal Fibrocystic Diseases (HRFD), which include rare conditions like Autosomal Recessive Polycystic Kidney Disease (ARPKD) and related disorders such as Joubert syndrome and congenital hepatic fibrosis. The goal is to gather clinical and genetic information and create educational resources to help families, doctors, and genetic counselors better understand these diseases. This observational study is designed to support research progress and community awareness through a shared database and biospecimen resources. Participants may choose to contribute to various parts of the study, including a clinical database, genetic testing, tissue donation, and educational resources. Medical records will be reviewed, with data entered into a secure database after removing personal identifiers. Blood or saliva samples may be collected from patients and their parents for genetic analysis, with samples stored at a specialized biorepository. Tissue samples from procedures like nephrectomy or autopsy may also be collected and stored for research. Participants will provide access to their medical information without needing to visit the study center. Data collection includes past, current, and future medical records, with annual updates for ongoing participation. Genetic and tissue samples will be stored and used to support research. The study team monitors the development of this resource over five years to enhance knowledge and treatment options for HRFD. Participation duration varies depending on continued involvement and consent.

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 treatment in patients diagnosed with either Alagille Syndrome (ALGS) or Progressive Familial Intrahepatic Cholestasis (PFIC). The study focuses on monitoring possible liver toxicity and, for PFIC patients, the potential impact of prolonged exposure to propylene glycol. This open-label, low-intervention trial aims to collect clinical outcomes over an extended period to better understand the treatment's effects. Participants will receive Livmarli as part of their standard care throughout the study. The trial includes a primary cohort of at least 45 treatment-naïve ALGS patients and a supplemental ALGS cohort already using Livmarli. Additionally, a minimum of 130 PFIC patients treated with Livmarli will be enrolled. Treatment and assessments follow a defined schedule during the study period. Participants will undergo regular evaluations every 3 to 4 months for up to 5 years, including liver function tests, fat-soluble vitamin levels, international normalized ratio measurements, and monitoring of propylene glycol toxicity for PFIC patients. Adverse events are tracked up to 7 days after the last dose. Researchers will assess long-term clinical outcomes to understand treatment impact, with participants continuing their care according to standard practice during the study.

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 mcg/kg once daily and 570 mcg/kg 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 evaluating the long-term safety and effectiveness of odevixibat in people with Alagille syndrome (ALGS), a rare genetic disorder affecting multiple organs including the liver, heart, skeleton, eyes, and kidneys. Symptoms often start in the first three months of life and include bile flow blockage, jaundice, poor growth, and severe itching. Odevixibat was authorized by the FDA in June 2023 for treating cholestatic itching in infants with ALGS aged over 12 months. This Phase 3, open-label study includes two groups: Cohort 1, participants from a prior study who meet entry criteria, and Cohort 2, infants under 12 months old with ALGS. The study has up to three periods: a treatment period lasting 72 weeks for Cohort 1 or 12 weeks for Cohort 2, with daily oral doses of 120 mcg/kg odevixibat; an optional extension for continued treatment visits every 16 weeks until commercial availability; and a safety follow-up period lasting 2 to 4 weeks for those not continuing treatment. Participants will attend clinic visits every 4 to 12 weeks during treatment and may continue some other medications with records kept. Assessments include blood and urine sampling, physical exams, and clinical evaluations. Cohort 1 participants will complete electronic diaries and questionnaires. Researchers will measure changes in itching, bile acid levels, lab tests, vital signs, medication use, quality of life, and adverse events. The study continues until late 2026 with ongoing safety and efficacy monitoring.

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.