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The Gut, Liver And Metabolome in Human Immunodeficiency Virus and Non Alcoholic Fatty Liver Disease
HIV
Non-Alcoholic Fatty Liver Disease
Metabolic-Associated Steatotic Liver Disease
Persons with human immunodeficiency virus (HIV) have higher risk of developing fatty liver
disease (NAFLD) than HIV-negative persons but the reasons for this discrepancy are not known.
Changes in the intestinal microbiome may contribute to the development of NAFLD in persons... expand
Persons with human immunodeficiency virus (HIV) have higher risk of developing fatty liver disease (NAFLD) than HIV-negative persons but the reasons for this discrepancy are not known. Changes in the intestinal microbiome may contribute to the development of NAFLD in persons with HIV (PWH) through impairment of barrier function of the intestinal wall and by producing metabolites that are harmful to the liver. This project will test the hypothesis that HIV-related NAFLD is associated with differences in the intestinal microbiome and that supplementation with probiotic and prebiotic fiber will lead to improvements in markers of NAFLD in PWH. Type: Interventional Start Date: Apr 2024 |
Estradiol Therapy In Transgender Women to Research Interactions With HIV Therapy
HIV I Infection
Transgender women (TW) are a key population and priority for HIV treatment. More research is
needed to develop evidence-based clinical guidance when it comes to choosing antiretroviral
treatment (ART) regimens for TW on feminizing hormonal therapy (FHT). Concerns about ART... expand
Transgender women (TW) are a key population and priority for HIV treatment. More research is needed to develop evidence-based clinical guidance when it comes to choosing antiretroviral treatment (ART) regimens for TW on feminizing hormonal therapy (FHT). Concerns about ART interacting with FHT and decreasing its effectiveness can lead to decreased ART adherence and increased viral loads. The GET IT RiGHT trial aims to address concerns about drug-drug interactions (DDIs) between ART and FHT while providing access to hormonal therapy to TW living with HIV. Data suggest that access to FHT improves adherence to HIV treatment and decreases treatment interruptions. This is an open-label, non-randomized, 3-group trial of adult TW and other individuals identifying as female or transfeminine but with male sex assigned at birth living with HIV. Participants will be on ART at entry and receive study-supplied 17-β estradiol for FHT for 48 weeks. The primary objectives of the study are to 1) assess whether TW continue to achieve therapeutic concentrations of ART while receiving FHT for 48 weeks and 2) assess whether serum estradiol concentrations on FHT (across a range of estradiol doses) vary between boosted and un-boosted ART regimens. Type: Interventional Start Date: Jan 2024 |
Amulet™ ADVANCE LAA
Atrial Fibrillation
Stroke
Bleeding
This is a prospective, multicenter, observational study intended to characterize real-world
outcomes on the commercially available Amulet device in the United States. The study will
enroll approximately 1000 subjects at up to 50 US clinical sites. Subjects will be followed... expand
This is a prospective, multicenter, observational study intended to characterize real-world outcomes on the commercially available Amulet device in the United States. The study will enroll approximately 1000 subjects at up to 50 US clinical sites. Subjects will be followed through 24 months in accordance with each site's standard care practices. Type: Observational Start Date: Jul 2023 |
Study to Evaluate Efficacy and Safety of Romosozumab Compared With Bisphosphonates in Children and Adolescents...
Osteogenesis Imperfecta
The primary objective of this study is to evaluate the effect of romosozumab treatment for
12-months compared with bisphosphonate(s) on the number of clinical fractures at 12-months;
the number of any fractures at 12-months and change in lumbar spine bone mineral density
(BMD)... expand
The primary objective of this study is to evaluate the effect of romosozumab treatment for 12-months compared with bisphosphonate(s) on the number of clinical fractures at 12-months; the number of any fractures at 12-months and change in lumbar spine bone mineral density (BMD) Z-score at 6-months. Type: Interventional Start Date: Apr 2024 |
Open-Label Extension Study to Assess Safety, Efficacy, and Tolerability of Lorundrostat in Subjects With...
Hypertension
This study is to evaluate the long-term safety, efficacy and tolerability of lorundrostat (an
aldosterone synthase inhibitor) in subjects with uncontrolled hypertension.
expand
This study is to evaluate the long-term safety, efficacy and tolerability of lorundrostat (an aldosterone synthase inhibitor) in subjects with uncontrolled hypertension. Type: Interventional Start Date: Jul 2023 |
Study of Edecesertib in Participants With Cutaneous Lupus Erythematosus (CLE)
Cutaneous Lupus Erythematosus (CLE)
The goal of this clinical study is to test how edecesertib (formerly known as GS-5718) can be
useful in treating Cutaneous Lupus Erythematosus (CLE) in participants with CLE. Information
on what is happening in the body relating to CLE, how the body processes, is affected by and... expand
The goal of this clinical study is to test how edecesertib (formerly known as GS-5718) can be useful in treating Cutaneous Lupus Erythematosus (CLE) in participants with CLE. Information on what is happening in the body relating to CLE, how the body processes, is affected by and responds to the study drug, and any study drug side effects will also be collected in this study. Type: Interventional Start Date: Apr 2023 |
Efficacy and Safety of Tezepelumab in Patients With Eosinophilic Esophagitis
Eosinophilic Esophagitis
A randomized, double-blind, placebo-controlled multicenter, phase 3 study to evaluate the
efficacy and safety of tezepelumab administered subcutaneously (SC) using an accessorized
pre-filled syringe (APFS) versus placebo in adult and adolescent patients with eosinophilic
esophagitis... expand
A randomized, double-blind, placebo-controlled multicenter, phase 3 study to evaluate the efficacy and safety of tezepelumab administered subcutaneously (SC) using an accessorized pre-filled syringe (APFS) versus placebo in adult and adolescent patients with eosinophilic esophagitis (EoE). Type: Interventional Start Date: Nov 2022 |
Evaluation of BE1116 in Patients With Traumatic Injury and Acute Major Bleeding to Improve Survival (...
Traumatic Injury
This is a prospective, multicenter, randomized, double-blind, placebo-controlled,
parallel-group, large simple trial to investigate the efficacy and safety of a single
intravenous (IV) infusion of BE1116 in subjects who have traumatic injury, with confirmed or
suspected acute... expand
This is a prospective, multicenter, randomized, double-blind, placebo-controlled, parallel-group, large simple trial to investigate the efficacy and safety of a single intravenous (IV) infusion of BE1116 in subjects who have traumatic injury, with confirmed or suspected acute major bleeding and / or predicted to receive a large volume blood product transfusion. Type: Interventional Start Date: Mar 2023 |
Inhaled Imatinib Pulmonary Arterial Hypertension Clinical Trial - Follow Up Long Term Extension (IMPAHCT-FUL)
Pulmonary Arterial Hypertension
IMPAHCT-FUL: Inhaled Imatinib Pulmonary Arterial Hypertension Clinical Trial - Follow Up Long
Term Extension (LTE) Trial is a follow up study to establish the long-term safety of AV-101.
The long-term effects of AV-101 on efficacy measures will also be assessed. Subjects who... expand
IMPAHCT-FUL: Inhaled Imatinib Pulmonary Arterial Hypertension Clinical Trial - Follow Up Long Term Extension (LTE) Trial is a follow up study to establish the long-term safety of AV-101. The long-term effects of AV-101 on efficacy measures will also be assessed. Subjects who successfully complete the 24-week placebo-controlled parent trial (AV-101-002) will be offered the opportunity to continue into this LTE study. Subjects who enroll in the study will receive one of three active AV-101 doses until such time as the optimal dose has been selected in the parent study. Type: Interventional Start Date: Nov 2022 |
Trial of Indication-Based Transfusion of Red Blood Cells in ECMO
Extracorporeal Membrane Oxygenation
Red Blood Cell Transfusion
Organ Failure, Multiple
TITRE - Trial of Indication-based Transfusion of Red Blood Cells in ECMO, is a multicenter,
prospective, randomized clinical trial. The overarching goal of TITRE is to determine whether
restricting red blood cell (RBC) transfusion according to an indication-based strategy for... expand
TITRE - Trial of Indication-based Transfusion of Red Blood Cells in ECMO, is a multicenter, prospective, randomized clinical trial. The overarching goal of TITRE is to determine whether restricting red blood cell (RBC) transfusion according to an indication-based strategy for those with bleeding and/or deficit of tissue oxygen delivery, compared with transfusion based on center-specific hemoglobin or hematocrit thresholds, can reduce organ dysfunction and improve later neurodevelopment in critically ill children receiving Extracorporeal Membrane Oxygenation (ECMO) support. Type: Interventional Start Date: Apr 2023 |
A Safety and Efficacy Study of Treatment Combinations With and Without Chemotherapy in Adult Participants...
Gastrointestinal Tract Malignancies
The purpose of this study is to evaluate the safety and preliminary clinical activity of
treatment combinations with and without chemotherapy in participants with locally advanced
unresectable or metastatic gastric, GEJ, and esophageal adenocarcinoma. Chemotherapy will
consist... expand
The purpose of this study is to evaluate the safety and preliminary clinical activity of treatment combinations with and without chemotherapy in participants with locally advanced unresectable or metastatic gastric, GEJ, and esophageal adenocarcinoma. Chemotherapy will consist of FOLFOX (oxaliplatin, leucovorin, fluorouracil). Type: Interventional Start Date: Jun 2022 |
Testing the Addition of Nivolumab to Standard Treatment for Patients With Metastatic or Unresectable...
Metastatic Colon Adenocarcinoma
Metastatic Rectal Adenocarcinoma
Stage III Colon Cancer AJCC v8
Stage III Rectal Cancer AJCC v8
Stage IV Colon Cancer AJCC v8
This phase II trial tests whether adding nivolumab to the usual treatment (encorafenib and
cetuximab) works better than the usual treatment alone to shrink tumors in patients with
colorectal cancer that has spread to other places in the body (metastatic) or that cannot be... expand
This phase II trial tests whether adding nivolumab to the usual treatment (encorafenib and cetuximab) works better than the usual treatment alone to shrink tumors in patients with colorectal cancer that has spread to other places in the body (metastatic) or that cannot be removed by surgery (unresectable) and whose tumor has a mutation in a gene called BRAF. Encorafenib is in a class of medications called kinase inhibitors. It is used in patients whose cancer has a certain mutation (change) in the BRAF gene. It works by blocking the action of mutated BRAF that signals cancer cells to multiply. This helps to stop or slow the spread of cancer cells. Cetuximab is in a class of medications called monoclonal antibodies. It binds to a protein called EGFR, which is found on some types of cancer cells. This may help keep cancer cells from growing. Immunotherapy with monoclonal antibodies, such as nivolumab, may help the body's immune system attack the cancer, and may interfere with the ability of tumor cells to grow and spread. Giving nivolumab in combination with encorafenib and cetuximab may be more effective than encorafenib and cetuximab alone at stopping tumor growth and spreading in patients with metastatic or unresectable BRAF-mutant colorectal cancer. Type: Interventional Start Date: Jul 2022 |
Microbiome Metabolites and Alcohol in HIV to Reduce CVD RCT
Microtia
Dysbiosis
Alcohol Drinking
HIV Infections
Cardiovascular Diseases
Among people living with HIV, heavy drinking increases the risk of heart disease and death.
Studies suggest that alcohol changes the number and kind of bacteria in your gut and these
changes increase the risk of heart disease and death. This randomized controlled trial will... expand
Among people living with HIV, heavy drinking increases the risk of heart disease and death. Studies suggest that alcohol changes the number and kind of bacteria in your gut and these changes increase the risk of heart disease and death. This randomized controlled trial will determine whether a pill containing healthy gut bacteria can increase the number good bacteria in the gut, lower levels of inflammation, and lower the risk of heart disease and death. Type: Interventional Start Date: Sep 2023 |
Randomized Trial of Sedative Choice for Intubation
Acute Respiratory Failure
Among critically ill adults undergoing emergency tracheal intubation, one in five experience
hypotension, cardiac arrest, or death. The sedatives used to rapidly induce anesthesia for
emergency tracheal intubation have been hypothesized to effect cardiovascular complications... expand
Among critically ill adults undergoing emergency tracheal intubation, one in five experience hypotension, cardiac arrest, or death. The sedatives used to rapidly induce anesthesia for emergency tracheal intubation have been hypothesized to effect cardiovascular complications and patient outcomes, but the optimal sedative medication for intubation of critically ill adults remains unknown. Ketamine and etomidate are the two most commonly used sedatives during intubation of critically ill adults. Data from a randomized clinical trial are urgently needed to determine the effect of ketamine versus etomidate on cardiovascular complications and clinical outcomes of emergency tracheal intubation. Type: Interventional Start Date: Apr 2022 |
A Study of Tucatinib With Trastuzumab and mFOLFOX6 Versus Standard of Care Treatment in First-line HER2+...
Colorectal Neoplasms
This study is being done to find out if tucatinib with other cancer drugs works better than
standard of care to treat participants with HER2 positive colorectal cancer. This study will
also test what side effects happen when participants take this combination of drugs. A side... expand
This study is being done to find out if tucatinib with other cancer drugs works better than standard of care to treat participants with HER2 positive colorectal cancer. This study will also test what side effects happen when participants take this combination of drugs. A side effect is anything a drug does to the body besides treating your disease. Participants in this study have colorectal cancer that has spread through the body (metastatic) and/or cannot be removed with surgery (unresectable). Participants will be assigned randomly to the tucatinib group or standard of care group. The tucatinib group will get tucatinib, trastuzumab, and mFOLFOX6. The standard of care group will get either: - mFOLFOX6 alone, - mFOLFOX6 with bevacizumab, or - mFOLFOX6 with cetuximab mFOLFOX6 is a combination of multiple drugs. All of the drugs given in this study are used to treat this type of cancer. Type: Interventional Start Date: Oct 2022 |
Safety Study of CC-93538 in Adult and Adolescent Participants With Eosinophilic Esophagitis
Eosinophilic Esophagitis
This study is an open-label, uncontrolled study design to evaluate the long-term safety and
tolerability of treatment with CC-93538. The study will enroll participants who participated
in the CC-93538-EE-001 or CC-93538-DDI-001 studies.
expand
This study is an open-label, uncontrolled study design to evaluate the long-term safety and tolerability of treatment with CC-93538. The study will enroll participants who participated in the CC-93538-EE-001 or CC-93538-DDI-001 studies. Type: Interventional Start Date: Sep 2021 |
Nivolumab in Combination With Chemo-Immunotherapy for the Treatment of Newly Diagnosed Primary Mediastinal...
Primary Mediastinal Large B-Cell Lymphoma
This phase III trial compares the effects of nivolumab with chemo-immunotherapy versus
chemo-immunotherapy alone in treating patients with newly diagnosed primary mediastinal
B-cell lymphoma (PMBCL). Immunotherapy with monoclonal antibodies, such as nivolumab, may
help the... expand
This phase III trial compares the effects of nivolumab with chemo-immunotherapy versus chemo-immunotherapy alone in treating patients with newly diagnosed primary mediastinal B-cell lymphoma (PMBCL). Immunotherapy with monoclonal antibodies, such as nivolumab, may help the body's immune system attack the cancer, and may interfere with the ability of cancer cells to grow and spread. Treatment for PMBCL involves chemotherapy combined with an immunotherapy called rituximab. Chemotherapy drugs work in different ways to stop the growth of cancer cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading. Rituximab is a monoclonal antibody. It binds to a protein called CD20, which is found on B cells (a type of white blood cell) and some types of cancer cells. This may help the immune system kill cancer cells. Giving nivolumab with chemo-immunotherapy may help treat patients with PMBCL. Type: Interventional Start Date: Oct 2021 |
A Study of a New Way to Treat Children and Young Adults With a Brain Tumor Called NGGCT
Central Nervous System Nongerminomatous Germ Cell Tumor
Choriocarcinoma
Embryonal Carcinoma
Immature Teratoma
Malignant Teratoma
This phase II trial studies the best approach to combine chemotherapy and radiation therapy
(RT) based on the patient's response to induction chemotherapy in patients with
non-germinomatous germ cell tumors (NGGCT) that have not spread to other parts of the brain
or body (localized).... expand
This phase II trial studies the best approach to combine chemotherapy and radiation therapy (RT) based on the patient's response to induction chemotherapy in patients with non-germinomatous germ cell tumors (NGGCT) that have not spread to other parts of the brain or body (localized). This study has 2 goals: 1) optimizing radiation for patients who respond well to induction chemotherapy to diminish spinal cord relapses, 2) utilizing higher dose chemotherapy followed by conventional RT in patients who did not respond to induction chemotherapy. Chemotherapy drugs, such as carboplatin, etoposide, ifosfamide, and thiotepa, work in different ways to stop the growth of tumor cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading. Radiation therapy uses high energy x-rays or high-energy protons to kill tumor cells and shrink tumors. Studies have shown that patients with newly-diagnosed localized NGGCT, whose disease responds well to chemotherapy before receiving radiation therapy, are more likely to be free of the disease for a longer time than are patients for whom the chemotherapy does not efficiently eliminate or reduce the size of the tumor. The purpose of this study is to see how well the tumors respond to induction chemotherapy to decide what treatment to give next. Some patients will be given RT to the spine and a portion of the brain. Others will be given high dose chemotherapy and a stem cell transplant before RT to the whole brain and spine. Giving treatment based on the response to induction chemotherapy may lower the side effects of radiation in some patients and adjust the therapy to a more efficient one for other patients with localized NGGCT. Type: Interventional Start Date: Jul 2021 |
Study of Selinexor in Combination With Ruxolitinib in Myelofibrosis
Myelofibrosis
This is a global, multicenter Phase 1/3 study to evaluate the efficacy and safety of
selinexor plus ruxolitinib in JAK inhibitor (JAKi) treatment-naïve myelofibrosis (MF)
participants. The study will be conducted in two phases: Phase 1 (open-label) and Phase 3
(double-blind).... expand
This is a global, multicenter Phase 1/3 study to evaluate the efficacy and safety of selinexor plus ruxolitinib in JAK inhibitor (JAKi) treatment-naïve myelofibrosis (MF) participants. The study will be conducted in two phases: Phase 1 (open-label) and Phase 3 (double-blind). Phase 1 (enrollment completed) was an open-label evaluation of the safety and recommended dose (RD) of selinexor in combination with ruxolitinib and included a dose escalation using a standard 3+3 design (Phase 1a) and a dose expansion part (Phase 1b). In Phase 3, JAKi treatment-naïve MF participants are enrolled in 2:1 ratio to receive the combination therapy of selinexor + ruxolitinib or the combination of placebo + ruxolitinib. Type: Interventional Start Date: Mar 2021 |
Avelumab With Binimetinib, Sacituzumab Govitecan, or Liposomal Doxorubicin in Treating Stage IV or Unresectable,...
Stage III Breast Cancer
Stage IIIA Breast Cancer
Stage IIIB Breast Cancer
Stage IIIC Breast Cancer
Stage IV Breast Cancer
This phase II trial studies how well the combination of avelumab with liposomal doxorubicin
with or without binimetinib, or the combination of avelumab with sacituzumab govitecan works
in treating patients with triple negative breast cancer that is stage IV or is not able to be... expand
This phase II trial studies how well the combination of avelumab with liposomal doxorubicin with or without binimetinib, or the combination of avelumab with sacituzumab govitecan works in treating patients with triple negative breast cancer that is stage IV or is not able to be removed by surgery (unresectable) and has come back (recurrent). Immunotherapy with checkpoint inhibitors like avelumab require activation of the patient's immune system. This trial includes a two week induction or lead-in of medications that can stimulate the immune system. It is our hope that this induction will improve the response to immunotherapy with avelumab. One treatment, sacituzumab Govitecan, is a monoclonal antibody called sacituzumab linked to a chemotherapy drug called SN-38. Sacituzumab govitecan is a form of targeted therapy because it attaches to specific molecules (receptors) on the surface of tumor cells, known as Tumor-associated calcium signal transducer 2 (TROP2) receptors, and delivers SN-38 to kill them. Another treatment, liposomal doxorubicin, is a form of the anticancer drug doxorubicin that is contained in very tiny, fat-like particles. It may have fewer side effects and work better than doxorubicin, and may enhance factors associated with immune response. The third medication is called binimetinib, which may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth, and may help activate the immune system. It is not yet known whether giving avelumab in combination with liposomal doxorubicin with or without binimetinib, or the combination of avelumab with sacituzumab govitecan will work better in treating patients with triple negative breast cancer. Type: Interventional Start Date: Jul 2019 |
iKanEat: A Randomized-controlled, Multi-center Trial of Megestrol for Chronic Oral Food Refusal in Children
Feeding Behavior
Feeding Disorder of Infancy or Early Childhood
This is a multi-center, randomized, placebo-controlled, double-blind clinical trial. The
primary focus of the study is the evaluation of the effectiveness of treatment with megestrol
as part of a 24 week behavioral feeding protocol in transitioning from tube to oral feedings... expand
This is a multi-center, randomized, placebo-controlled, double-blind clinical trial. The primary focus of the study is the evaluation of the effectiveness of treatment with megestrol as part of a 24 week behavioral feeding protocol in transitioning from tube to oral feedings in a pediatric population. Approximately 60 pediatric subjects matching the criteria for eligibility will be enrolled in the study and randomized to receive either megestrol (n=30) or placebo (n=30). Type: Interventional Start Date: Aug 2019 |
A Comparison of ACL Repair With BEAR Device vs. Autograft Patellar Tendon ACL Reconstruction
Anterior Cruciate Ligament Tear
This study is designed to evaluate bridge-enhanced ACL restoration (BEAR), a new surgical
technique for repairing knees injured by a tear of the anterior cruciate ligament (ACL) that
promotes reattachment and healing of the ACL using a blood-enriched implant. BEAR will be... expand
This study is designed to evaluate bridge-enhanced ACL restoration (BEAR), a new surgical technique for repairing knees injured by a tear of the anterior cruciate ligament (ACL) that promotes reattachment and healing of the ACL using a blood-enriched implant. BEAR will be compared to bone to patellar tendon to bone autograft (BPTB) reconstruction, a standard ACL surgical reconstruction technique that replaces a torn portion of the ACL with transplanted patellar tendon tissue, and thus requires additional invasive patellar tendon removal and reuse as a portion of the ACL surgery, in a two group randomized clinical trial (RCT) in which participants will have equal chance of receiving BEAR or BPTB reconstruction. The BEAR technique is FDA approved and involves surgically placing a sponge (the BEAR implant) between the torn ends of the ACL, providing an absorbable implant for the ligament ends to grow into. The investigators hypothesize that the ACL repair with BEAR technology will achieve results not appreciably worse than BPTB reconstruction, with a reduced burden of invasive surgery, when assessed over the first two post-operative years. Animal studies suggest BEAR may also ameliorate longer-term premature osteoarthritis of the knee, a common consequence of ACL reconstruction surgery. However, no human data yet support that, and this trial will conclude before such a benefit can be observed. All patients 18-55 years of age who are candidates for ACL surgery within 50 days of the ACL injury and who present to surgeons participating in the study will be offered participation in the trial. Patients will be randomized and will undergo specified rehabilitation protocols post-operatively with primary assessments of knee laxity and patient reported measures at 6 months, 1 year, and 2 years. Type: Interventional Start Date: Aug 2021 |
Study of Tenofovir Alafenamide (TAF) in Children and Teen Participants With Chronic Hepatitis B Virus...
Chronic Hepatitis B
The goals of this clinical study are to compare the effectiveness, safety and tolerability of
study drug, tenofovir alafenamide (TAF), versus placebo in teens and children with CHB and to
learn more about the dosing levels in children.
expand
The goals of this clinical study are to compare the effectiveness, safety and tolerability of study drug, tenofovir alafenamide (TAF), versus placebo in teens and children with CHB and to learn more about the dosing levels in children. Type: Interventional Start Date: Nov 2016 |
HDClarity: a Multi-site Cerebrospinal Fluid Collection Initiative to Facilitate Therapeutic Development...
Huntington's Disease
HDClarity will seek at least 2500 research participants at different stages of Huntington's
disease (HD). The primary objective is to collect a high quality CSF sample for evaluation of
biomarkers and pathways that will enable the development of novel treatments for HD. The... expand
HDClarity will seek at least 2500 research participants at different stages of Huntington's disease (HD). The primary objective is to collect a high quality CSF sample for evaluation of biomarkers and pathways that will enable the development of novel treatments for HD. The secondary objective is to generate a high quality plasma sample collection matching the CSF collections, which will also be used to evaluate biomarkers and pathways of relevance to HD research and development. Type: Observational Start Date: Jan 2017 |
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases...
Genetic Disease
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... expand
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. Type: Observational Start Date: Sep 2015 |
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