Treatment Trials

122 Clinical Trials for Various Conditions

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RECRUITING
A Study of a Potential Disease Modifying Treatment in Individuals at Risk for or With a Type of Early Onset AD Caused by a Genetic Mutation
Description

The purpose of this research study is to test the study drug, referred to as remternetug, to determine its effectiveness for the study treatment of asymptomatic (at risk) Alzheimer disease in individuals with AD-causing mutations. This study will also investigate the effects of remternetug on biomarkers (measures of the disease including brain scans, blood and spinal fluid tests), examine safety data to identify any potential benefits or risks, and examine how well participants can tolerate remternetug. Stage 1 will determine if treatment with the study drug prevents or reverses amyloid beta (Aβ) accumulation compared with placebo in participants with dominantly inherited Alzheimer's disease (DIAD). Stage 2 will evaluate the effect of early anti-amyloid treatment on downstream biomarkers of AD in treated participants compared to external control groups.

RECRUITING
A Study to Learn About the Study Medicine PF-07934040 When Given Alone or With Other Anti-cancer Therapies in People With Advanced Solid Tumors That Have a Genetic Mutation.
Description

The purpose of this study is to learn about the safety and effects of the study medicine alone or when given together with other anti-cancer therapies. This study also aims to find the best dose. This study is seeking participants who have solid tumors (a mass of abnormal cells that forms a lump or growth in the body) that: * are advanced (cancer that doesn't disappear or stay away with treatment) and * have a KRAS gene mutation (a change in the DNA of the KRAS gene that can cause cells to grow in very high numbers). This includes (but limited to) the following cancer types: Non-Small Cell Lung Cancer (NSCLC): It's a type of lung cancer where the cells grow slowly but often spread to other parts of the body. Colorectal Cancer (CRC): This is a disease where cells in the colon (a part of large intestine) or rectum grow out of control. Pancreatic ductal adenocarcinoma (PDAC): This is a cancer that starts in the ducts of the pancreas but can spread quickly to other parts of the body. Pancreas is a long, flat gland that lies in the abdomen behind the stomach. Pancreas creates enzymes that help with digestion. It also makes hormones that can help control your blood sugar levels. All participants in this study will take the study medication (PF-07934040) as pill by mouth twice a day repeating for 21-day or 28-day cycles. Depending on which part of the study participants are enrolled into they will receive the study medication (PF-07934040 alone or in combination with other anti-cancer medications). These anti-cancer medications will be given in the study clinic by intravenous (IV) that is directly injected into the veins at various times (depending on the treatment) during the 21-day or 28-day cycle. Participants can continue to take the study medication (PF-07934040) and the combination anti-cancer therapy until their cancer is no longer responding. The study will look at the experiences of people receiving the study medicines. This will help see if the study medicines are safe and effective. Participants will be involved in this study for up to 4 years. During this time, they will come into the clinic between 1 to 4 times in each 21-day or 28-day cycle. After they have stopped taking the study medication (at about at 2 years) they will be followed for another two years to see how they are doing.

TERMINATED
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia: A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation
Description

The purpose of this study is to assess the safety, tolerability, biomarker, cognitive and clinical efficacy of investigational products in participants with an Alzheimer's disease-causing mutation by determining if treatment with the study drug slows the rate of progression of cognitive/clinical impairment or improves disease-related biomarkers.

RECRUITING
A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset AD Caused by a Genetic Mutation
Description

The purpose is to evaluate the biomarker effect, safety, and tolerability of investigational study drugs in participants who are known to have an Alzheimer's disease (AD)-causing mutation. Stage 1 will determine if treatment with the study drug prevents or slows the rate of amyloid beta (Aβ) pathological disease accumulation demonstrated by Aβ positron emission tomography (PET) imaging. Stage 2 will evaluate the effect of early Aβ plaque reduction/prevention on disease progression by assessing downstream non-Aβ biomarkers of AD (e.g., CSF total tau, p-tau, NfL) compared to an external control group from the DIAN-OBS natural history study and the DIAN-TU-001 placebo-treated participants.

ACTIVE_NOT_RECRUITING
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation (DIAN-TU)
Description

To assess the safety, tolerability, biomarker, cognitive, and clinical efficacy of investigational products in participants with an Alzheimer's disease-causing mutation by determining if treatment with the study drug improves disease-related biomarkers and slows the rate of progression of cognitive or clinical impairment.

RECRUITING
Study of LY3537982 in Cancer Patients With a Specific Genetic Mutation (KRAS G12C)
Description

The purpose of this study is to find out whether the study drug, LY3537982, is safe and effective in cancer patients who have a specific genetic mutation (KRAS G12C). Patients must have already received or were not able to tolerate the standard of care, except for specific groups who have not had cancer treatment. The study will last up to approximately 4 years.

COMPLETED
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation.
Description

The purpose of this study is to assess the safety, tolerability, biomarker and cognitive efficacy of investigational products in subjects who are known to have an Alzheimer's disease-causing mutation by determining if treatment with the study drug slows the rate of progression of cognitive impairment and improves disease-related biomarkers. This is an analysis study for an MPRP: DIAN-TU-001 Master NCT01760005

TERMINATED
A Study to Assess the Safety, Tolerability, and Effect on Disease Progression of BIIB105 in Participants With Amyotrophic Lateral Sclerosis (ALS) and Participants With the ALS Ataxin-2 (ATXN2) Genetic Mutation
Description

The ALSpire Study is a clinical trial evaluating the investigational drug BIIB105 in adults living with amyotrophic lateral sclerosis (ALS). The ALSpire Study consists of two parts: * Part 1: 6-month placebo-controlled study. During Part 1, participants are randomly assigned to receive either BIIB105 or placebo in a 3:1 or 2:1 ratio (depending on the participant's assigned Cohort). * Part 2: up to 3-year long-term open-label extension. During Part 2, all participants receive BIIB105. The objectives of the study are to evaluate: * The safety and tolerability of BIIB105 in people with ALS * What the body does to BIIB105 (also called "pharmacokinetics") * What BIIB105 does to the body (also called "pharmacodynamics") * Whether BIIB105 can slow the worsening of clinical function

TERMINATED
Targeted Therapy in Treating Patients With Incurable Non-Small Cell Lung Cancer With Genetic Mutations
Description

This phase II trial studies how well targeted therapy works in treating patients with incurable non-small cell lung cancer with a genetic mutation. Giving drugs that target other genetic mutations or other specific proteins may work better when a patient has cancer caused by a driver mutation and the treatment that targets that mutation stops working.

ACTIVE_NOT_RECRUITING
Surgery in Preventing Ovarian Cancer in Patients With Genetic Mutations
Description

This phase II trial studies how well surgery works in preventing ovarian cancer in patients with genetic mutations at risk of ovarian cancer. Risk reducing salpingo oophorectomy (RRSO) is surgery to remove the fallopian tubes and ovaries at the same time. Interval salpingectomy with delayed oophorectomy (ISDO) is surgery to remove the fallopian tubes. It is not known whether ISDO works better than RRSO at lowering risk of ovarian cancer and improving the sexual function and psychosocial well-being in patients with genetic mutation.

COMPLETED
Genetic Mutations in Blood and Tissue Samples in Predicting Response to Treatment in Patients With Locally Advanced Rectal Cancer Undergoing Chemoradiation
Description

This research trial studies genetic mutations in blood and tissue samples to see if they can be used to predict treatment response in patients with locally advanced rectal cancer undergoing chemoradiation. Studying samples of blood and tumor tissue in the laboratory from patients with cancer may help doctors learn more about genetic mutations or changes that occur in deoxyribonucleic acid (DNA) and help doctors understand how patients respond to treatment.

RECRUITING
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation. Master Protocol DIAN-TU-001
Description

The purpose of this study is to assess the safety, tolerability, biomarker, cognitive and clinical efficacy of investigational products in participants with an Alzheimer's disease-causing mutation by determining if treatment with the study drug slows the rate of progression of cognitive/clinical impairment or improves disease-related biomarkers.

COMPLETED
Genetic Mutations and Environmental Exposure in Young Patients With Retinoblastoma and in Their Parents and Young Healthy Unrelated Volunteers
Description

This laboratory study is looking at genetic mutations and environmental exposure in young patients with retinoblastoma and in their parents and young healthy unrelated volunteers. Gathering information about gene mutations and environmental exposure may help doctors learn more about the causes of retinoblastoma in young patients.

TERMINATED
Studying Common Genetic Mutations Related to Mucositis in Patients With Multiple Myeloma Receiving High-Dose Melphalan
Description

RATIONALE: Studying blood or mouthwash samples in the laboratory from patients receiving melphalan for cancer may help doctors learn more about changes that occur in DNA, identify biomarkers related to cancer, and help predict how patients will respond to treatment. PURPOSE: This clinical trial is studying common genetic mutations related to mucositis in patients with multiple myeloma receiving high-dose melphalan.

COMPLETED
Study of Muscle Abnormalities in Patients With Specific Genetic Mutations
Description

Hypertrophic cardiomyopathy (HCM) is a genetically inherited disease affecting the heart. It causes thickening of heart muscle, especially the chamber responsible for pumping blood out of the heart, the left ventricle. This condition can cause patients to experience symptoms of chest pain, shortness of breath, fatigue, and heart beat palpitations. Researchers believe the disease may be caused by abnormalities in the genes responsible for producing proteins of the heart muscle. Oculopharyngeal muscular dystrophy (OPMD) is another genetically inherited disease. This condition affects the muscles of the eyes and throat causing symptoms of weak eye movements, difficulty swallowing and speaking, and weakness of the arms and legs. In previous studies researchers have found that several patients with hypertrophic cardiomyopathy (HCM) also had oculopharyngeal muscular dystrophy (OPMD). Researchers are interested in learning more about how these two diseases are associated with each other. In this study, researcher plan to collect samples of muscles (skeletal muscle biopsies) from patients belonging to families in which several members have inherited one or both of these diseases. The muscle samples will be used to link the muscle abnormalities with the specific genetic mutations. Patients participating in this study may not be directly benefited by it. However, information gathered because of this study may be used to develop better techniques for diagnosing and treating these conditions.

ACTIVE_NOT_RECRUITING
Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma
Description

This research trial studies genetic mutations in saliva or buccal mucosa samples from patients with embryonal or alveolar rhabdomyosarcoma. Identifying gene mutations may help doctors learn about the prognosis of patients with embryonal or alveolar rhabdomyosarcoma.

ACTIVE_NOT_RECRUITING
Overall and Disease Specific Survival in Patients With Confirmed MEN1 With or Without PNET (Pancreatic Neuroendocrine Tumors)
Description

OBJECTIVES: The primary objective of this study is to evaluate the effect of estrogen on the development of the PNET in MEN1 patients. The secondary objective is to evaluate the overall survival and disease specific survival in patients who have confirmed MEN1 with or without PNET and a pancreatic neuroendocrine tumor in relation to their hormone status. The secondary objective is to evaluate clinicopathologic features in relation to hormone status.

NO_LONGER_AVAILABLE
Expanded Access With ABT-888 (Veliparib) to Treat Metastatic Breast Cancer
Description

This is an expanded access protocol to allow continued maintenance therapy with ABT-888 (veliparib) for three patients with metastatic triple negative breast cancer who are currently receiving the investigational product in association with clinical trial participation. Additionally, the protocol will enroll up to 7 new patients with metastatic BRCA associated or triple negative breast cancer to allow for additional access to veliparib monotherapy, or at the investigator's discretion, veliparib in combination with cisplatin and/or vinorelbine.

RECRUITING
Vascular Disease Discovery Protocol
Description

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

RECRUITING
Pancreas Registry and High Risk Registry
Description

The purpose of this study is to establish a registry of patients with pancreatic diseases. Patients included in the registry may include those with: pancreatic cancer, precancerous lesions of the pancreas, inflammatory lesions of the pancreas, cystic lesions of the pancreas, and patients at high-risk of pancreatic cancer such as those with a family history of pancreatic cancer or with a family history of a syndrome known to be associated with pancreatic cancer. Pancreatic cancer is the fourth leading cause of death from cancer in the United States. However, little is known about the development of pancreatic cancer and pancreatic diseases in individuals with the above conditions. Knowledge of how family history, environmental exposures, and inflammatory lesion of the pancreas contribute to the development of pancreatic cancer and pancreatic diseases is essential. You may qualify to take part in this research study because you have inflammation in the pancreas, a pancreatic cyst, pre-cancerous lesions of the pancreas, pancreatic cancer, a family history of pancreatic cancer, or a family history of a syndrome known to be associated with pancreatic cancer. We will also be collecting a blood sample from all participants for DNA isolation. Sometimes we are born with genes or DNA that give us an increased or decreased chance of developing an illness later in life. Genetic material will be isolated from your blood for further study. You may also choose to provide additional blood samples for serum and plasma extraction. Serum and plasma are components of the blood which can be used to measure indicators of disease in the blood, called biomarkers,for pancreatic diseases. Clinical data and biological specimens contained in this study may be used for a wide variety of future related studies to the cause, diagnosis, outcome and treatment of pancreatic cancer. Funds for conducting this research are provided by Mount Sinai.

COMPLETED
National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
Description

The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) was initiated in 2006 by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). GenTAC established a registry of 3706 patients with genetic conditions that may be related to thoracic aortic aneurysms and collected medical data and biologic samples. The study ended in September 2016. Data and samples are available from NHLBI and requests should be made to BioLINCC. See the NHLBI website for more information: https://www.nhlbi.nih.gov/research/resources/gentac/.

RECRUITING
Sapanisertib and Serabelisib (PIKTOR) With Paclitaxel and a Substudy With Diet in Patients With Advanced/Recurrent Endometrial Cancer
Description

This is a Phase 2, multicenter, open-label, single-arm study to evaluate the efficacy and safety of sapanisertib and serabelisib (PIKTOR) with paclitaxel in participants with advanced or recurrent endometrial cancer.

RECRUITING
DIAN-TU Amyloid Removal Trial (ART) in Dominantly Inherited Alzheimer's Disease
Description

This is an open label study to treat dominantly inherited Alzheimer's disease (DIAD) mutation carrier participants from the DIAN-TU-001 gantenerumab Open Label Extension (OLE) period with lecanemab to determine the effects of amyloid removal on age of onset and clinical progression compared to external controls, if amyloid plaque as measured by amyloid PET can be fully removed in DIAD, and the effects of amyloid removal on biomarkers of disease progression.

RECRUITING
Robotic-Assisted da Vinci System Prophylactic Nipple-Sparing Mastectomy
Description

This study evaluates the safety and effectiveness of the da Vinci Surgical Systems in prophylactic Nipple Sparing Mastectomy procedures.

COMPLETED
A Pilot Study of Influenza Viruses Isolated From Immunocompromised Children and Adolescents
Description

The purpose of the proposed study is to gather critical information that may be useful in designing effective prevention and treatment strategies for control of seasonal influenza and an influenza pandemic. In particular, the critical questions are related to the virus' ability to adapt to efficient replication and spread in humans. Influenza is a contagious respiratory illness caused by influenza A and B viruses. Influenza infections result in about 230,000 hospitalizations and 36,000 deaths annually in the United States. Children with cancer are more likely to have serious influenza and complications than those who have no underlying medical problems. They are also more likely to have prolonged influenza illnesses and to shed influenza viruses from their noses for long periods of time (sometimes for months). Recent studies suggest that influenza viruses may also be carried and shed from the gastrointestinal tract. New types of influenza viruses emerge frequently through mutations that occur when the viruses replicate. These mutations allow the virus to escape from killing by the immune system and are, in large part, responsible for seasonal epidemics of influenza that occur in the fall or winter months. It is possible that viruses can mutate when they are carried in the respiratory or gastrointestinal tracts for long periods, potentially giving rise to viruses that spread more easily to other persons, cause more severe disease, lead to new influenza epidemics or make the viruses resistant to drugs used to treat influenza. Researchers at St. Jude Children's Research Hospital want to learn about how influenza viruses mutate in immunocompromised children. They will investigate how long children with cancer carry influenza viruses in their nose, throat and gastrointestinal tract and the characteristics of any mutations that are found in these viruses.

TERMINATED
Metformin in Non Small Cell Lung Cancer (NSCLC)
Description

The goal of this clinical research study is to learn if giving metformin in combination with radiation therapy is more effective than radiation therapy alone. In this study, participants will receive either metformin or a placebo. A placebo is not a drug. It looks like the study drug but is not designed to treat any disease or illness. It is designed to be compared with a study drug to learn if the study drug has any real effect. This is an investigational study. Metformin is FDA approved for the treatment of diabetes. Its use in this study to be given with radiation therapy to treat lung cancer is investigational. The study doctor can explain how the study drug is designed to work. Up to 70 participants will be enrolled in this study. All will take part at MD Anderson.

Conditions
COMPLETED
Rational Therapeutics Based on Matched Tumor and Normal Tissue
Description

The goal of this laboratory research study is to learn if using molecular information (matched therapy) or not using molecular information and having the study doctor choose the therapy based on your past experience are more effective ways to choose the best cancer treatment for you. This is an investigational study. Up to 200 participants will take part in this study. Up to 50 will be enrolled at MD Anderson.

COMPLETED
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Description

This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.

COMPLETED
Biomarker Analysis for Patients With Metastatic Colorectal Cancer (MCC)
Description

Patients are being asked to participate in this study who have colorectal cancer that has come back after initial treatment. The investigators want to improve treatment in patients with this disease. In other types of cancers, it has been possible to improve treatment by studying the gene mutations (called biomarkers) in a patient's cancer and "matching" these to existing cancer therapies or study drugs which target that specific mutation. Colorectal cancers have not been routinely tested in this way. In this study, investigators will determine whether mutational testing can be successfully done on colorectal cancers and how often mutations are detected for which there are existing drugs (or drugs in development). The results will be used to determine if treating physicians use this information in planning subsequent treatment.

RECRUITING
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Description

Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.

Conditions
16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion1Q21.1 Microduplication Syndrome (Disorder)ACTL6BADNPAHDC1ANK2ANKRD11ARID1BASH1LBCL11ACHAMP1CHD2CHD8CSNK2A1CTBP1CTNNB1 Gene MutationCUL3DDX3XDNMT3ADSCAMDYRK1AFOXP1GRIN2AGRIN2BHIVEP2-Related Intellectual DisabilityHNRNPH2KATNAL2KDM5BKDM6BKMT2C Gene MutationKMT2EKMT5BMBD5MED13LPACS1PPP2R5D-Related Intellectual DisabilityPTCHD1RESTSCN2A EncephalopathySETBP1 Gene MutationSETD5SMARCA4 Gene MutationSMARCC2STXBP1 Encephalopathy With EpilepsySYNGAP1-Related Intellectual DisabilityTBR1ARHGEF9HNRNPUPPP3CAPPP2R1ASLC6A12p16.3 Deletions5q35 Deletions5q35 Duplications7q11.23 Duplications15Q13.3 Deletion Syndrome16p11.2 Triplications16P12.2 Microdeletion16P13.11 Microdeletion Syndrome (Disorder)17Q12 Microdeletion Syndrome (Disorder)17Q12 Duplication Syndrome17Q21.31 Deletion Syndrome17q21.3 DuplicationsACTBADSLAFF2ALDH5A1ANK3ARXATRX Gene MutationAUTS2 SyndromeBCKDKBRSK2CACNA1CCAPRIN1CASKCASZ1CHD3CICCNOT3CREBBP Gene MutationCSDE1CTCFDEAF1DHCR7DLG4EBF3EHMT1EP300 Gene MutationGIGYF1GRIN1GRIN2DIQSEC2-Related Syndromic Intellectual DisabilityIRF2BPLKANSL1KCNB1KDM3BNEXMIFKMT2AMBOAT7MEIS2MYT1LNAA15NBEANCKAP1NIPBLNLGN2NLGN3NLGN4XNR4A2NRXN1NRXN2NSD1 Gene MutationPHF21APHF3PHIPPOMGNT1PSMD12RELNRERERFX3RIMS1RORBSCN1ASETD2 Gene MutationSHANK2SIN3ASLC9A6SONSOX5SPASTSRCAPTAOK1TANC2TCF20TLK2TRIOTRIP12UPF3BUSP9XVPS13BWACWDFY3ZBTB20ZNF292ZNF4622Q37 Deletion Syndrome9q34 Duplications15q15 Deletions15Q24 DeletionNR3C2SYNCRIP2q34 Duplication2q37.3 Deletion6q16 Deletion15q11.2 BP1-BP2 Deletion16p13.3 Deletion17Q11.2 Microduplication Syndrome (Disorder)17p13.3Xq28 DuplicationCLCN4CSNK2BDYNC1H1EIF3FGNB1MED13MEF2CRALGAPBSCN1BYY1Xp11.22 DuplicationPACS2MAOAMAOBHNRNPCHNRNPDHNRNPKHNRNPRHNRNPUL25P Deletion SyndromeTCF7L2 Gene MutationHECW2