Bardet-Biedl Syndrome

Researchers are evaluating the safety and effectiveness of combining trametinib and azacitidine in children and young adults newly diagnosed with juvenile myelomonocytic leukemia JMML. This study focuses on two groups lower-risk patients and high-risk patients, defined by specific genetic and molecular features. The trial aims to determine how well these drug combinations work and their safety in treating JMML. Lower-risk patients will receive daily azacitidine for five days combined with daily trametinib for 28 days per treatment cycle, for up to twelve cycles. High-risk patients will receive a combination of azacitidine, fludarabine, and cytarabine for five days along with daily trametinib for 28 days per cycle, for up to two cycles. These treatments are given through oral and intravenous methods, depending on the drug, and are tailored to the patients risk category. Participants will undergo evaluations to monitor safety and treatment effects during and after each treatment cycle. Assessments include blood tests, genetic studies, kidney, liver, and heart function checks, and monitoring for side effects. The study will measure safety outcomes at the end of the first treatment cycle plus 30 days. Patients are followed throughout treatment courses lasting up to twelve cycles for lower-risk or two cycles for high-risk JMML, with ongoing monitoring to ensure their well-being.

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.

Bardet-Biedl Syndrome BBS is a rare genetic disorder with a wide range of symptoms that can vary greatly even among family members. Researchers have created the Clinical Registry Investigating Bardet-Biedl Syndrome CRIBBS to collect detailed health information from people diagnosed with BBS in one secure database. This helps families, doctors, and researchers better understand the disease and supports the development of targeted treatments for BBS. CRIBBS is a confidential, web-based registry where participants provide health details through interviews and surveys, often conducted by phone or online due to geographic distances. Participants or their guardians complete health questionnaires and behavioral surveys initially and annually. Medical records are also collected with permission to enrich the data. The registry operates under strict privacy rules, using unique identifiers instead of names and following HIPAA regulations. Participants help by sharing their health information regularly, which is securely stored and used to study the natural history of BBS and support future research. The registry is overseen by an institutional review board and a board of directors to guide its focus. CRIBBS aims to accelerate research for effective treatments by gathering and sharing de-identified data with approved researchers worldwide.

This research aims to establish a patient group in France for Bardet-Biedl Syndrome BBS and Alstrm Syndrome ALMS, two rare diseases that share features like multiple sensory and metabolic problems, including diabetes. There are currently no specific treatments available, and the study seeks to understand the long-term natural clinical and biological history of these diseases and how their various symptoms affect quality of life. Participants will undergo procedures including skin biopsies, which carry minor risks such as pain and possible scarring. The study focuses on collecting detailed clinical histories over a 5-year period to better characterize these conditions. Both children and adults diagnosed with BBS or ALMS based on clinical or genetic evaluation can take part. During the study, participants will be monitored for changes in their symptoms and quality of life. Researchers will collect and analyze clinical data over 5 years to track disease progression. The study involves signing informed consent and may include translation support for non-French speakers. The total participation duration is at least 5 years, with ongoing health assessments throughout this time.

Researchers are studying adults with rare and complex genetic syndromes that affect multiple body systems and often include intellectual disability. These patients typically receive specialized care from multiple specialists during childhood, but as medical advances have extended life expectancy, many are now living into adulthood. The study aims to understand the medical needs, comorbidities, medication use, and quality of life impacts for adults with these rare syndromes, addressing a gap in adult care and guidelines. This research involves a retrospective review of medical files, including medical history, laboratory results, additional tests, and records of physical and psychological complaints. There is no active treatment or intervention, as the study collects and analyzes existing data to gain insights about health issues and medication adaptations needed for these syndromes. Participants medical records will be analyzed to evaluate the presence of physical health problems, laboratory values, physical and psychological complaints, and medication use over a one-year period. The study uses statistical software for analysis and aims to improve understanding of adult care needs for these rare genetic conditions. The study began in October 2018 and will continue through January 2030.

Researchers are studying people affected by rare inherited retinal degenerative diseases through the My Retina Tracker Registry. Sponsored by the Foundation Fighting Blindness, this observational study aims to better understand the diversity, prevalence, and natural history of these diseases and gene variants. It also seeks to support research and clinical trials by collecting detailed patient and clinical information over time. Participants create an online profile via a secure portal where they share their own perspective on their retinal disease, including family history, genetic test results, and general health. They can also invite their clinicians to add clinical exam data after each visit to build a comprehensive longitudinal record. The registry uses standardized data entry to maintain consistency and allows participants to compare their data with others. During the study, participants regularly update their profiles with personal and clinical information. Researchers measure the number of participants with rare diagnoses within the inherited retinal degenerative disease category, tracking data for up to 20 years. The registry supports recruitment for research while protecting patient privacy. Participation involves ongoing data entry and clinical updates, contributing to a better understanding of these rare eye diseases.

Researchers are collecting information from patients with rare kidney diseases to support research and improve care. This National Registry of Rare Kidney Diseases RaDaR aims to develop clinical guidelines, audit treatments and outcomes, and help develop future therapies by gathering comprehensive data. Rare kidney diseases often have genetic causes and affect patients from childhood into adulthood, but their rarity makes research and treatment development challenging. The registry gathers clinical data and biological samples from various rare kidney disease groups, each focusing on conditions like Alport Syndrome, APRT Deficiency, Polycystic Kidney Disease, and many others. It connects patients and clinicians and allows patients to contribute information about their quality of life. This infrastructure enables identification of patient groups for clinical trials, biomarker development, and genotype-phenotype studies. Participants provide clinical and disease-specific information over time, which supports epidemiological and translational research. The registry facilitates patient recruitment for studies, improves patient and clinician education, and provides access to current knowledge about rare kidney diseases. The registry is ongoing and primarily includes UK patients but also accepts international participants consented through UK NHS hospitals.

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.

This research aims to evaluate the use of setmelanotide, a melanocortin-4 receptor MC4R agonist, in people with Bardet-Biedl syndrome BBS and other rare genetic disorders causing severe early-onset obesity and excessive hunger. These conditions involve defects in the MC4R pathway, which regulates appetite and energy balance. While clinical trials have shown setmelanotides effects, this study focuses on understanding its impact under real-world clinical conditions, including safety and patient experience. Participants will receive setmelanotide according to approved labeling and their physicians discretion, reflecting routine clinical practice. The study is designed as a registry to collect long-term data on setmelanotide treatment and may include other MC4R agonists as they become available. Data collection occurs during regular outpatient visits at University Hospital Essen, tracking treatment persistence and metabolic outcomes. Throughout the study, participants will have routine clinical assessments including body weight, BMI, lipid profiles, liver fat measurements, and quality of life evaluations. Researchers will also monitor safety, tolerability, cognitive changes, brain connectivity, and hormonal changes over several years, with outcome measurements taken up to 72 months. The study gathers both clinical and patient-reported data to understand treatment effects in everyday care.

Nephronophthisis NPH is a genetic kidney disease caused by mutations in over 20 genes, including NPHP1 and NPHP4. It leads to reduced urine concentration, chronic kidney inflammation, and often progresses to end-stage kidney failure before age 20. NPH can occur alone or with other symptoms like retinal problems and skeletal abnormalities, all linked to ciliary dysfunction. Currently, there is no effective treatment available for this condition. Researchers are studying the proteins and signaling pathways affected by NPHP gene mutations to find new treatment targets. The study collects blood and urine samples from affected patients, healthy relatives, and control groups to analyze urine components through advanced methods like proteome and metabolomics profiling. This helps identify biomarkers and assess drug responses in kidney cells derived from patients. Participants provide samples for multiomics analyses, including protein and microRNA profiling from urine extracellular vesicles. Researchers will monitor these biomarkers to evaluate potential therapeutic targets in urine-derived kidney cells over three years. The main goal is to confirm new targets and support the development of treatments for NPH and related kidney ciliopathies.