24 Clinical Trials for Various Conditions
This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative of symptoms. Researchers are creating a biobank (library) of samples and information to learn more about treating rare and undiagnosed diseases.
Background: People with conditions that are unknown or hard to diagnose may be helped by a genetic technique. It is called exome sequencing. It helps diagnose disease by unlocking all the data in a person s genetic code. But the results from it are often unclear. Uncertain results can pose problems for doctors and patients. Researchers want to learn more about how people respond when they get uncertain results. Objective: To study the psychological and behavioral effects of getting uncertain results from exome sequencing. Eligibility: Adults who have: Had a diagnostic odyssey for at least 6 months. An example is having clinical symptoms but no diagnosis. And had exome sequencing to try to reach a diagnosis. Design: Participants will choose a date and time for their interview. They will sign a form to give consent and authorization. Participants will fill out 2 forms. One is the Intolerance of Uncertainty Short Form Scale. The other is the Perceptions of Uncertainties in Genome Sequencing Scale. Both scales ask about what it is like to get clinically uncertain results from exome sequencing. They focus on coping and other behavioral responses. Participants will have a phone interview. It will last for 45-60 minutes. It will be recorded and transcribed. At the start of the call, the researcher will review the consent form with the participant. Participants will give data such as race, education, income, and how long they have been looking for a diagnosis. Participants will read their responses to the 2 scales during the interview.
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical records and admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and several new conditions. The success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the Undiagnosed Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases.
This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do population genetic studies looking at genetic drift and founder mutations in this unique population.
The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions. The primary goal of the research is to better understand the genes and proteins (gene products) involved in rare diseases. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with rare disease in the future. Individuals with any rare/undiagnosed condition are eligible to enroll. Enrollment includes: * Providing DNA and tissue samples (when available) * Access to participants' medical records * Access to genomic data (when available) Samples are used for genetic analysis (primarily exome and genome sequencing or reanalysis) to identify the genetic cause for the individual's illness. Individual research results are returned to families through their health care provider after confirmation in a clinical lab. If a cause is identified, that can be reported back to the family through their health care provider and the study's genetic counselor. When possible, the investigators also collect samples from parents and full-siblings as well as any other affected family members.
Background: Studies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases. Objective: To collect blood and tissue samples for studies to identify underlying causes of disease. Eligibility: People of all ages Design: Participants will have blood and/or tissue samples collected. Samples can be collected at the NIH Clinical Center. Participants doctors can collect the samples and send them to NIH. NIH staff can collect samples off site. For blood samples, blood is taken from an arm vein using a needle. Tissue collection may involve: Buccal smear: Cells are collected by scraping the inside of the cheek with a cotton swab. Saliva collection: Participants spit into a cup. Skin biopsy: A special needle takes a very small skin sample. Surgical waste tissue: If participants have surgery, NIH may receive samples of tissue that would routinely be removed. Umbilical cord or cord blood collection: If a participant has a baby, NIH may receive a small piece of the umbilical cord or blood from the cord once the baby is delivered.
Background: - Parents of a child with an undiagnosed medical condition face a lot of uncertainty. They may not know how to take care of their child or how the illness will affect their family life. Researchers want to study how these parents cope with and adapt to their child s condition in light of this uncertainty. Being uncertain can make it hard for parents to adapt. But it also might give them hope. Researchers want to study how uncertain the parents think their situation is and how that affects the way they think they can cope. Personality traits, like being able to handle uncertainty and being resilient, might also affect coping. Objectives: - To understand how having a child with an undiagnosed illness affects the way their parents think they can cope. Eligibility: - Adults with a child who has a medical condition that has not been diagnosed for at least 2 years and involves at least 2 parts of the body. Design: * Participants will answer survey questions for about 30 minutes. The questions are about their thoughts and feelings about having a child with an undisclosed illness. * Participants can take the survey on paper or online.
Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of inherited conditions. Previous studies have not examined caregiving from a network perspective, nor have they considered how cognitive and emotional responses, such as caregivers worry for themselves and relatives acquiring the disease or guilt related to the genetic etiology of their child s illness, as possible stressors; the current project fills this literature gap. Caregiving processes may vary across type of illness and the life course. In illnesses that impact children, parents and grandparents may take on caregiving roles whereas in conditions that impact adults, spouses and adult children may provide care. Caregivers must adapt to the strain of caring for their affected relatives and this adaptation may differ depending on caregiver roles. The caregiver s support network may influence adaptation, impacting the health and well-being of patients, their caregivers, and other relatives. This project, comprised of 5 substudies, will examine social contexts surrounding families involved in caring for individuals with chronic inherited conditions from a relational perspective. Surveys and interviews will assess participants cognitions and emotions about the disease, caregiving burden and caregiving/support network systems. In addition, biomarkers will be considered in 2 substudies to examine how caregiving roles and expectations impact health among caregivers. As part of our current inquiry, we have developed an assessment tool aimed at understanding caregiver experiences related to dietary practices in the context of metabolic conditions. To evaluate the psychometric properties of this scale, we propose a fifth substudy under the current protocol. We aim to recruit at least 5550 participants through residential/daycare centers, advocacy groups, and the NIH Clinical Center. We will recruit formal caregivers, multiple biological and non-biological adult relatives of affected individuals and typically developing controls to construct and evaluate caregiving/support network systems. This project will use a social network framework to develop and adapt common measures of caregiving roles to evaluate burden, perceptual bias, and unmet expectations in caregiving. The psychometric properties of these new measures, characteristics of family caregiving and support networks, and how these network characteristics are associated with caregiving strain and well-being, including biomarkers of physical health, will be investigated. The moderating role of family members cognitions and emotions and disease context will be considered. Findings will guide future research to develop network-based interventions promoting positive adaptation to the presence of inherited conditions in families through improved social environments and coping skills....
This project is part of the ACHIEVE GREATER (Addressing Cardiometabolic Health Inequities by Early PreVEntion in the GREAT LakEs Region) Center (IRB 100221MP2A), the purpose of which is to reduce cardiometabolic health disparities and downstream Black-White lifespan inequality in two cities: Detroit, Michigan, and Cleveland, Ohio. The ACHIEVE GREATER Center will involve three separate but related projects that aim to mitigate health disparities in risk factor control for three chronic conditions, hypertension (HTN, Project 1), heart failure (HF, Project 2) and coronary heart disease (CHD, Project 3), which drive downstream lifespan inequality. All three projects will involve the use of Community Health Workers (CHWs) to deliver an evidence-based practice intervention program called PAL2. All three projects will also utilize the PAL2 Implementation Intervention (PAL2-II), which is a set of structured training and evaluation strategies designed to optimize CHW competence and adherence (i.e., fidelity) to the PAL2 intervention program. The present study is Project 1 of the ACHIEVE GREATER Center
The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Researchers want to learn more about this stress and its effects. Objective: To learn how the caregiving process affects the health and well-being of caregivers over time. Eligibility: Adults aged 18 years and older who are caregivers for a person with a chronic medical condition and who have already given consent to take part in other study activities. Design: Participants will be put in different groups. They will complete some or all of the following tasks over 1 year. They may repeat these tasks once a year for up to 5 years. Participants will fill out 2 online surveys. One will ask about their health and their caregiving experience. The other will ask them to list people in their social network and their care recipient s social network who give them support. Participants will have a 2-part phone interview. It will be audio recorded. In part 1, they will be asked about the people they listed in the survey. In part 2, they will be asked about their caregiving experience and events in the care recipient s life. Participants may fill out a weeklong diary every 3 months. It will ask about their daily social activities, well-being, and stress levels. It will also ask about their thoughts and feelings about caregiving. Participants may give a blood sample each year they are in the study. ...
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through conventional clinical means, learning more about the pathobiology of genetic disorders, and developing novel diagnostic technologies and analytics. 500 participants with undiagnosed and suspected genetic disorders will be recruited.
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels. They want to collect data and specimens from affected people, their family members, and healthy people. Objective: To study diseases of the heart and/or blood vessels. Eligibility: People age 2 and older who may have genetic disease affecting the heart and/or blood vessels Their relatives Healthy volunteers Design: Participants will be screened with a medical history, physical exams, and imaging tests. Participants may have a few visits or visits for 2 weeks or more. This will depend on their age and disease status. Visits may include: Photographs of the face and body Heart tests Samples taken of blood, urine, saliva, skin, and/or tissue Scans. For some, a dye may be injected into a vein. A six-minute walk test Lung tests. For some, participants will blow into a tube. For others, they will breathe in a gas from a mask, have a small injection, then have a scan. Stress tests while walking on a treadmill or riding a stationary bike Ultrasound of veins and arteries Devices outside the body testing the stiffness and function of arteries Eye exam and eye tests. For some, a dye may be injected in a vein. Blood pressure tests Measurements of blood flow under the skin and in the arms and fingernail blood vessels Devices outside the body testing flexibility of the blood vessels and skin, and skin temperature
The purpose of this study is to: 1. define novel homogeneous groups of patients with LDs and 2. work toward finding the cause of these disorders.
This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray. Identifying patients at high predicted probability of needing a test in clinical settings will be examined to determine if it decreases the duration of time to testing and increases diagnostic yield. SIGHT requires only data already collected in routine clinical encounters and is calculated prior to a clinical visit at VUMC.
Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient encounters at Partners HealthCare facilities. We intend to utilize the PDR to identify groups of patient who are of high clinical suspicion for undiagnosed Gaucher disease. A group of potential participants will be identified through the PDR. Detailed records will be requested to further narrow to ideal participants based upon previously existing diagnoses and symptoms. Participants will be invited to partake in the study via a letter from their Partners care provider with supporting study details. Study participants will be evaluated in a one-time visit. A complete family and medical history will be collected. A physical exam will be performed, and up to 20cc of blood will be drawn. All participants will be notified of their disease status via letter and phone call from the study staff. If the study participant is diagnosed with GD through this evaluation, proper follow-up recommendations and referrals will be provided. Our intent is to determine if existing patient data can successfully be utilized to aid in the identification of patients with rare genetic disease.
Direct benefits to the participants, who are diagnosed with celiac disease may be substantial and could include lessening or prevention of GI symptoms, correction of biochemical abnormalities and reduction in risk for malignancies or bone disease which are most common in untreated celiac disease. However, the precise benefit is unknown and the motivation for this proposed study. If these individuals have a positive celiac serology test at the present time there is a high likelihood that they may have celiac disease.
Background: * Rare and undiagnosed conditions are often chronic and disabling, with symptoms affecting different organ systems at various levels of severity. Perhaps the most challenging feature of an undiagnosed medical condition that has lasted 2 or more years is its characteristic uncertainty. In the absence of a diagnosis, health care professionals can provide only limited treatment and prognostic information. * In the case of a child with an undiagnosed condition, the uncertainty that accompanies what is often a chronic, debilitating medical condition and an undefined prognosis may have physical, psychological, social, and spiritual implications for the entire family. Research suggests that parents of a child with an undiagnosed medical condition may be at significantly increased risk of anxiety, depression, poor health, and overall lower quality of life. * It is not well understood how individuals cope with and adapt to chronic uncertainty, and the factors that influence this process. To design future interventions, descriptive studies are needed to reveal predictors that can be manipulated to improve outcomes. Objectives: * To examine whether perceptions of uncertainty, and perceived personal control, are associated with coping and adaptation. * To examine how the length of time elapsed since child was identified as sick and perceptions of uncertainty affect coping and adaptation. * To assess how perceptions of uncertainty, time elapsed since child became sick, optimism, and perceived personal control affect coping and adaptation. Eligibility: * Parents (older than 18 years of age) of children who have an undiagnosed medical condition. * Participants must have a working e-mail address or fixed postal address. Design: * Parents will be recruited from Web-based support networks for parents of undiagnosed children through Web site postings, electronic mailing lists, and printed newsletter postings. * Participants will be asked to complete a questionnaire about their experiences in living with a child who has an undiagnosed but chronic medical condition. The main outcome variable is adaptation to living with one's child's undiagnosed medical condition. * Participants have the option to complete an online or paper version of the questionnaire. The questionnaire should take between 20 and 30 minutes to complete. * No medical treatments are specifically offered as a part of this study.
This is a retrospective, multinational, non-interventional, observational study. A series of cohort studies will be conducted to assess the prevalence of undiagnosed stage 3 CKD in each region. The study will also assess the current state of CKD management in patients with undiagnosed CKD
This study expands and validates the pilot study NCT06381284. It is a fully remote, site-less, prospective, observational study enrolling adults in the United States (excluding U.S. territories) with undiagnosed neuromuscular symptoms. The primary objective is to determine the validity of a self-assessment tool in encouraging undiagnosed participants, recruited through a social media campaign, to seek medical evaluation for suspected myasthenia gravis (MG).
This is a fully remote, site-less, prospective, observational study enrolling adults in the United States (excluding U.S. territories) with undiagnosed neuromuscular symptoms. The main study objective is to evaluate the feasibility of a social media recruitment campaign tied to a participant reported symptom survey and self-administered physical assessment tool to influence undiagnosed participants to seek care for suspected Myasthenia Gravis (MG).
Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient encounters at Partners HealthCare facilities. We intend to utilize the PDR to identify groups of patient who are of high clinical suspicion for undiagnosed lysosomal acid lipase deficiency. A group of potential participants will be identified through the PDR. Detailed records will be requested to further narrow to ideal participants based upon previously existing diagnoses and symptoms. Participants will be invited to partake in the study via a letter from their Partners care provider with supporting study details. Study participants will be evaluated in a one-time visit. A complete family and medical history will be collected. A physical exam will be performed, and up to 20cc of blood will be drawn. All participants will be notified of their disease status via letter and phone call from the study staff. If the study participant is diagnosed with LALD through this evaluation, proper follow-up recommendations and referrals will be provided. Our intent is to determine if existing patient data can successfully be utilized to aid in the identification of patients with rare genetic disease.
The purpose of this study is to see if pralatrexate extends response and survival following CHOP-based chemotherapy (CHOP: cyclophosphamide, doxorubicin, vincristine, and prednisone) and if pralatrexate improves response in patients with partial response following CHOP-based chemotherapy. Patients will either receive pralatrexate or be under observation. All patients will receive vitamins B12 and folic acid and attend regular clinic visits to evaluate their disease and health.
The purpose of this clinical trial is to evaluate the ability of various biomarkers measured in serum and/or pleural fluids to estimate the risk of finding cancer in patients with undiagnosed pleural effusions. An algorithm for prediction of the risk of finding cancer in the patient using an optimal combination of markers will be developed, and patients will be categorized as having a low, moderate, or high risk of finding cancer that might be used to more effectively triage patients.