Genetic Disorders

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58 Genetic Disorders Trials Near You

Power is an online platform that helps thousands of Genetic Disorders patients discover FDA-reviewed trials every day. Every trial we feature meets safety and ethical standards, giving patients an easy way to discover promising new treatments in the research stage.

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No Placebo
Highly Paid
Stay on Current Meds
Pivotal Trials (Near Approval)
Breakthrough Medication

PGN-EDODM1 for Myotonic Dystrophy

Richmond, Virginia
This trial is testing the safety and tolerability of a drug called PGN-EDODM1, given through an IV, in people with Myotonic Dystrophy Type 1 (DM1). The drug aims to address the underlying issues causing muscle problems in these patients. The study includes initial assessments followed by a period of receiving the drug and monitoring.

Trial Details

Trial Status:Recruiting
Trial Phase:Phase 1
Age:18 - 60

32 Participants Needed

Educational Game vs Genetic Counseling for Prenatal Screening Education

Chapel Hill, North Carolina
Advancements in prenatal genetic screening have significantly improved the identification of chromosomal abnormalities and heritable conditions during pregnancy, yet current standards for patient education in this domain are largely ineffective. The most effective approach to education about prenatal screening is one-on-one genetic counseling, but due to the limited number of counselors this is not feasible, especially in rural and frontier areas. The investigators will address this national problem using a novel education game that can more effectively address this gap in healthcare decision-making.
No Placebo Group

Trial Details

Trial Status:Recruiting
Trial Phase:Unphased

1125 Participants Needed

Exercise for Early Parkinson's Disease

Rochester, New York
The goal of this clinical trial is two-fold. First to investigate the feasibility of whether a remotely administered smartphone app can increase the volume and intensity of physical activity in daily life in individuals with a LRRK2 G2019S or GBA1 N370S genetic mutation over a long period of time (24 months). Second, to explore the preliminary efficacy of exercise on markers for prodromal Parkinson's disease progression in individuals with a LRRK2 G2019S or GBA1 N370S genetic mutation. Participants will be tasked to achieve an incremental increase of daily steps (volume) and amount of minutes exercised at a certain heart rate (intensity) with respect to their own baseline level. Motivation with regards to physical activity will entirely be communicated through the study specific Slow Speed smartphone app. A joint primary objective consists of two components. First to determine the longitudinal effect of an exercise intervention in LRRK2 G2019S or GBA1 N370S variant carriers on a prodromal load score, comprised of digital biomarkers of prodromal symptoms. The secondary component of the primary outcome is to determine the feasibility of a remote intervention study. The secondary objective is the effect of a physical activity intervention on digital markers of physical fitness. Exploratory outcomes entail retention rate, completeness of remote digital biomarker assessments, digital prodromal motor and non-motor features of PD. Using these biomarkers, the investigators aim to develop a composite score (prodromal load score) to estimate the total prodromal load. An international exercise study with fellow researchers in the United Kingdom are currently in preparation (Slow-SPEED-UK) and active in the Netherlands (Slow-SPEED-NL). Our intention is to analyse overlapping outcomes combined where possible through a meta-analysis plan, to obtain insight on (determinants of) heterogeneity in compliance and possible efficacy across subgroups
No Placebo Group

Trial Details

Trial Status:Not Yet Recruiting
Trial Phase:Unphased
Age:50+

600 Participants Needed

EHR-Based Interventions for Breast and Ovarian Cancer Genetic Testing

Philadelphia, Pennsylvania
The goal of this sequential study design is to increase genetic testing in those meeting national clinical guidelines. The main question it aims to answer is: which intervention is most effective in uptake of genetic testing for the target population? Participants will receive genetic testing and counseling that may initiate life-saving screenings.
No Placebo Group

Trial Details

Trial Status:Enrolling By Invitation
Trial Phase:Unphased
Age:25 - 100
Sex:Female

3000 Participants Needed

Sitagliptin for Type 2 Diabetes with Genetic Mutation

Philadelphia, Pennsylvania
This is a pilot clinical trial to test the hypothesis that during sitagliptin (DPP4 inhibitor), individuals heterozygous for DPP4 loss of function variants will have a reduction in DPP4 activity and antigen, lower glucose after a mixed meal, and higher levels of intact DPP4 substrates compared to during placebo and compared to matched controls.

Trial Details

Trial Status:Recruiting

20 Participants Needed

Educational Video for Childhood Cancer

Philadelphia, Pennsylvania
This trial aims to develop and test an informational video about genetic testing for children and adolescents newly diagnosed with cancer or tumors. The video explains why both cancer tissue and normal tissue are tested, helping families understand the process and its benefits. By providing this information, the trial seeks to support families and improve their experience during a challenging time.
No Placebo Group

Trial Details

Trial Status:Active Not Recruiting
Trial Phase:Unphased
Age:12+

359 Participants Needed

Rifampin for Genetic Disorders Related to High Calcium Levels

Philadelphia, Pennsylvania
This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and/or hypercalciuria in participants with at least one inactivating mutation of the CYP24A1 gene. Eligible subjects will receive rifampin for a total of 16 weeks during this study.
No Placebo Group

Trial Details

Trial Status:Recruiting
Trial Phase:Phase 2
Age:6 - 65

60 Participants Needed

eHealth Disclosure for Genetic Disorder Results

Philadelphia, Pennsylvania
The goal of this hybrid type 1 effectiveness-implementation study is to evaluate and compare different ways of delivering genetic research results to participants. The main questions the study aims to answer are: * Is sharing actionable genetic research results with participants through a multimedia patient-informed eHealth intervention (e.g. patient portal) no worse than sharing results by telephone or videoconference with a genetic counselor? * Will research participants access an eHealth educational intervention or chatbot education to learn about research results being offered and the option to decline learning their individual research results and how frequently participants choose to decline actionable research results? * Who benefits less and more from digital intervention with return of actionable research results and what barriers exist to using these tools for return of research results outside this study? Participants in the biobank will be offered digital tools to learn about research results being offered and the option to decline receiving these results. Those who don't decline and have an actionable result will be randomly assigned to receive their results with a genetic counselor or through an eHealth portal. Participants will complete surveys before and after receipt of results to understand patient experiences with these methods of education and return of results to determine if digital tools can be used to help ensure more patients get access to research results which could impact their health.
No Placebo Group

Trial Details

Trial Status:Enrolling By Invitation
Trial Phase:Unphased

2500 Participants Needed

Sepofarsen for Leber Congenital Amaurosis

Philadelphia, Pennsylvania
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A\>G (p.Cys998X) mutation in the CEP290.
Pivotal Trial (Near Approval)

Trial Details

Trial Status:Recruiting
Trial Phase:Phase 3
Age:6+

32 Participants Needed

ECUR-506 for Ornithine Transcarbamylase Deficiency

New York, New York
Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for detoxification of ammonia. Individuals with OTC deficiency can build-up excess levels of ammonia in their blood, potentially resulting in devastating consequences, including cumulative and irreversible neurological damage, coma and death. The severe form of the condition emerges shortly after birth and is more common in boys than girls. This is a Phase 1/2/3, open-label, multicenter, safety, efficacy, and dose finding study of ECUR-506 in male babies with neonatal onset OTC deficiency. The primary objective of this study is to evaluate the safety, tolerability, and efficacy of up to three dose levels of ECUR-506 following intravenous (IV) administration of a single dose.
No Placebo Group

Trial Details

Trial Status:Recruiting
Trial Phase:Phase 1, 2
Age:24 - 7
Sex:Male

8 Participants Needed

VX-670 for Myotonic Dystrophy

Ottawa
The purpose of the study is to evaluate the long-term safety and tolerability, efficacy and pharmacokinetics of VX-670 in participants with Myotonic Dystrophy Type I (DM1).
No Placebo Group

Trial Details

Trial Status:Enrolling By Invitation
Trial Phase:Phase 2

36 Participants Needed

DNA Sequencing for Genetic Disorders

Rochester, Minnesota
This clinical trial collects information on how sequencing a patient's deoxyribonucleic acid (DNA) (i.e., the genetic material) could impact their health care. This study also develops and improves ways to include genomic information from DNA sequencing into the electronic health record to create a more complete "Health Tapestry" for each participant. Sequencing of a patient's DNA leads to the detection of genetic variants some of which determine risk for disease development. Discovery of those genetic variants in a patient could result in prevention, earlier diagnosis or better therapy of disease.
No Placebo Group

Trial Details

Trial Status:Active Not Recruiting
Trial Phase:Unphased

110000 Participants Needed

Metformin for Fragile X Syndrome

Montreal, Quebec
This trial tests metformin in people with fragile X syndrome aged 6 to 35 years. Metformin, a diabetes medication, may help improve their behavior, language skills, and control their appetite by balancing brain signals. The study will assess its safety and effectiveness over several months. Metformin, commonly used for diabetes, has shown promise in improving cognitive and behavioral issues in fragile X syndrome based on preliminary studies.

Trial Details

Trial Status:Recruiting
Trial Phase:Phase 2
Age:6 - 35

120 Participants Needed

Trihexyphenidyl for Cerebral Palsy

Kansas City, Missouri
This study looks at how a medicine called trihexyphenidyl works in children with dystonic cerebral palsy. The study aims to understand how trihexyphenidyl is broken down and used in the body of pediatric patients and whether this is impacted by a person's genetics. Information from this study will also be used to design future clinical trials.
No Placebo Group

Trial Details

Trial Status:Recruiting
Trial Phase:Phase 1
Age:5 - 17

40 Participants Needed

Stem Cell Transplantation for Blood Cancers

Minneapolis, Minnesota
This is a phase II, open-label, prospective study of T cell receptor alpha/beta depletion (TCR α/β TCD) peripheral blood stem cell (PBSC) transplantation for children and adults with hematological malignancies. This is a safety/feasibility study of the investigational procedure/product.
No Placebo Group

Trial Details

Trial Status:Recruiting
Trial Phase:Phase 2
Age:< 60

70 Participants Needed

Genetic Counseling for Inherited Disorders

Minneapolis, Minnesota
The goal of the GC-PRO study is to try to make genetic counseling better for people of all backgrounds. We are asking participants to complete two surveys and to allow audio recording of their genetic counseling visit. The purpose of the study is to understand whether trying different ways of doing genetic counseling will lead to better experiences for patients. The research team is also working with partners from the Somali, Latino/Hispanic, Black/African American, and Hmong communities to make sure the research is being done in a way that will benefit underserved communities.
No Placebo Group

Trial Details

Trial Status:Recruiting
Trial Phase:Unphased

994 Participants Needed

Gene Therapy for Spastic Paraplegia

Boston, Massachusetts
Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration. The goal of this clinical trial is to evaluate whether a gene therapy can safely treat children with SPG47, a rare genetic condition that causes progressive spasticity and developmental delays. The main questions it aims to answer are: * Is the gene therapy safe and well tolerated? * Does the gene therapy improve motor function and developmental outcomes? Participants will: * Undergo screening assessments to confirm eligibility * Receive a single dose of the gene therapy vector * Attend follow-up visits for safety monitoring and developmental assessments over the course of five years
No Placebo Group

Trial Details

Trial Status:Not Yet Recruiting
Trial Phase:Phase 1, 2
Age:12 - 60

5 Participants Needed

Stress Management Program for Von Hippel-Lindau Syndrome

Boston, Massachusetts
The Relaxation Response Resiliency Program (3RP) has shown efficacy in improving coping and resilience across diverse populations; however, little is known about how it helps individuals manage the challenges of living with a chronic illness. This study proposes to pilot test an adapted version of the 3RP among patients living with VHL.
No Placebo Group

Trial Details

Trial Status:Enrolling By Invitation
Trial Phase:Unphased

40 Participants Needed

Genetic Counseling for Genetic Disorders

Boston, Massachusetts
To learn about patient barriers to accessing genetic medicine, we will analyze anonymous posts from a membership-based online community \[Inspire.com\], and investigate how these barriers differ for various populations. We will then test whether these barriers can be addressed by providing online access to a genetic counselor to answer patient questions for one group of patients (virtual advisory board group) and compare to that of a control group who does not have access to a genetic counselor (virtual peer-to-peer board group).
No Placebo Group

Trial Details

Trial Status:Active Not Recruiting
Trial Phase:Unphased

70 Participants Needed

Oral Semaglutide for Type 2 Diabetes

Boston, Massachusetts
The goal of this research study is to evaluate the pathophysiologic mechanisms by which genetic variation impacts response to an FDA-approved medication commonly used to treat type 2 diabetes called oral semaglutide (Rybelsus) and to characterize the physiological response to a mixed meal tolerance test (MMTT) before and after a 14-day treatment with oral semaglutide. The investigators will do this by measuring factors in the blood, such as sugars, fats, metabolites, and proteins, after eating a standardized breakfast meal at the first visit and after taking 14 doses of oral semaglutide over two weeks before the second study visit. The food (mixed meal breakfast) we will be studying is specially prepared to contain a set amount of protein, carbohydrates, and fat. The investigators hypothesize that understanding how the acute biochemical response to oral semaglutide differs by genetic variation will generate insight into drug mechanisms and type 2 diabetes pathophysiology.
No Placebo Group

Trial Details

Trial Status:Recruiting
Trial Phase:Phase 4
Age:18 - 50

125 Participants Needed

Why Other Patients Applied

"I have dealt with voice and vocal fold issues related to paralysis for over 12 years. This problem has negatively impacted virtually every facet of my life. I am an otherwise healthy 48 year old married father of 3 living. My youngest daughter is 12 and has never heard my real voice. I am now having breathing issues related to the paralysis as well as trouble swallowing some liquids. In my research I have seen some recent trials focused on helping people like me."

AG
Paralysis PatientAge: 50

"My orthopedist recommended a half replacement of my right knee. I have had both hips replaced. Currently have arthritis in knee, shoulder, and thumb. I want to avoid surgery, and I'm open-minded about trying a trial before using surgery as a last resort."

HZ
Arthritis PatientAge: 78

"I was diagnosed with stage 4 pancreatic cancer three months ago, metastatic to my liver, and I have been receiving and responding well to chemotherapy. My blood work revealed that my tumor markers have gone from 2600 in the beginning to 173 as of now, even with the delay in treatment, they are not going up. CT Scans reveal they have been shrinking as well. However, chemo is seriously deteriorating my body. I have 4 more treatments to go in this 12 treatment cycle. I am just interested in learning about my other options, if any are available to me."

ID
Pancreatic Cancer PatientAge: 40

"I changed my diet in 2020 and I’ve lost 95 pounds from my highest weight (283). I am 5’3”, female, and now 188. I still have a 33 BMI. I've been doing research on alternative approaches to continue my progress, which brought me here to consider clinical trials."

WR
Obesity PatientAge: 58

"I've been struggling with ADHD and anxiety since I was 9 years old. I'm currently 30. I really don't like how numb the medications make me feel. And especially now, that I've lost my grandma and my aunt 8 days apart, my anxiety has been even worse. So I'm trying to find something new."

FF
ADHD PatientAge: 31

Motivational Interviewing for High Cholesterol

Duluth, Minnesota
This trial aims to help patients with suspected Familial Hypercholesterolemia (FH) by using motivational interviews. These interviews educate patients about their health risks and encourage them to inform their family members. The goal is to improve disease management and early detection in relatives.
No Placebo Group
Pivotal Trial (Near Approval)

Trial Details

Trial Status:Recruiting
Trial Phase:Phase 3
Age:2 - 75

300 Participants Needed

Genetic Counseling for Mental Health Risks Associated with Cannabis Use

Halifax, Nova Scotia
Severe mental illness (SMI) refers to the most burdensome psychiatric conditions. The need to pre-empt the onset of SMI is pressing because once SMI develops, quality of life is poor and available treatments have limited efficacy. Most risk factors for SMI are either unchangeable (e.g., genetics) or difficult to alter (e.g., low socio-economic status). In contrast, cannabis use is one specific risk factor that could be avoided. Certain individuals are more vulnerable to the harmful effects of cannabis. Genetic factors can help us identify these high-risk individuals. One in three individuals are carriers of a higher-risk genetic variant, and cannabis users with this genotype are at up to 7-fold increased risk of developing schizophrenia. In our study, genetic counselling will be provided to participants by a board-certified genetic counsellor. During the genetic counselling session, participants will have the option to receive their genotype. Participants will be counselled regarding their individualized risk of developing and of not developing SMI based on family history, whether or not they choose to use cannabis, and genotype (if the participants accept the genetic test results). The investigators hypothesize that this intervention will reduce exposure to cannabis compared to the youth who are not offered the intervention.
No Placebo Group

Trial Details

Trial Status:Recruiting
Trial Phase:Unphased
Age:12 - 21

120 Participants Needed

Genomic Biorepository for Genetic Disorders

San Diego, California
Rady Children's Institute for Genomic Medicine (RCI) will collect biological samples (such as blood), derived genomic sequences (from DNA and RNA), and clinical features in a Biorepository as a standardized resource for future research studies. The purpose of the Genomic Institute Biorepository is to provide consented samples and data for basic and clinical research related to the genomic cause and treatment of childhood disease, and, in the future, as reference (Quality Control) data to improve the ability to make clinical diagnoses or clinical decisions. In addition, the Biorepository will provide a mechanism for making a diagnosis of a genetic disease. That is, once genomic sequences have been derived from biological samples, they will be immediately analyzed. If a genetic disease is identified that appears to explain an affected child's clinical features, then those results will be confirmed by the medically accepted standard, and placed in the electronic health record.
No Placebo Group

Trial Details

Trial Status:Recruiting
Trial Phase:Unphased

102000 Participants Needed

Genome Sequencing for Genetic Disorders

San Diego, California
The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Parents will be approached to provide informed consent to enroll their newborns in prenatal, postnatal, and outpatient settings. The main questions this study aims to answer are: What is the utility of BeginNGS as compared to state newborn screening? What is the acceptability and feasibility of BeginNGS as compared to state newborn screening? What is the cost effectiveness of BeginNGS as compared to state newborn screening? Enrolled newborns will have a blood sample taken and will receive the BeginNGS test. Newborns will have also had the state newborn screening test.
No Placebo Group

Trial Details

Trial Status:Recruiting
Trial Phase:Unphased
Age:1 - 28

10000 Participants Needed

Genomic Sequencing for Genetic Disorders

San Diego, California
Rapid Whole Genome Sequencing (rWGS) has proven to provide much faster diagnoses than traditional clinical testing, including clinical Whole Exome Sequencing (WES) and standard Whole Genome Sequencing (WGS). This collaborative study seeks to provide rWGS as a research test to additional pediatric hospitals nationwide to assist in the rapid diagnosis of acutely ill children suspected of a genetic condition. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, and health economics including potential cost-effectiveness of rWGS. This study will also serve as a biorepository for future research on samples and data generated from genomic sequencing.
No Placebo Group

Trial Details

Trial Status:Enrolling By Invitation
Trial Phase:Unphased

100000 Participants Needed

Personalized Antisense Therapy for Genetic Disorder

San Diego, California
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with SCN2A associated developmental epileptic encephalopathy
No Placebo Group

Trial Details

Trial Status:Active Not Recruiting
Trial Phase:Phase 1, 2

1 Participants Needed

Gene Therapy for Hemophilia A

Los Angeles, California
This trial is testing a gene therapy called valoctocogene roxaparvovec in patients with severe haemophilia A who have developed antibodies against standard treatments. The therapy aims to provide a working version of the gene needed for proper blood clotting.
No Placebo Group

Trial Details

Trial Status:Active Not Recruiting
Trial Phase:Phase 1, 2
Sex:Male

10 Participants Needed

Large Language Models for Cardiomyopathy

Palo Alto, California
This study evaluates the impact of large language models (LLMs) versus traditional decision support tools on clinical decision-making in cardiology. General cardiologists will be randomized to manage real patient cases from a cardiovascular genetic cardiomyopathy clinic, with or without AI assistance. Each case will be assessed by two cardiologists, and their responses will be graded by blinded subspecialty experts using a standardized evaluation rubric.
No Placebo Group

Trial Details

Trial Status:Recruiting
Trial Phase:Unphased

12 Participants Needed

12

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We started Power when my dad was diagnosed with multiple myeloma, and I struggled to help him access the latest immunotherapy. Hopefully Power makes it simpler for you to explore promising new treatments, during what is probably a difficult time.

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Learn More About Trials
How Do Clinical Trials Work?Are Clinical Trials Safe?What Can I Expect During a Clinical Trial?

Frequently Asked Questions

How much do Genetic Disorders clinical trials pay?

Each trial will compensate patients a different amount, but $50-100 for each visit is a fairly common range for Phase 2–4 trials (Phase 1 trials often pay substantially more). Further, most trials will cover the costs of a travel to-and-from the clinic.

How do Genetic Disorders clinical trials work?

After a researcher reviews your profile, they may choose to invite you in to a screening appointment, where they'll determine if you meet 100% of the eligibility requirements. If you do, you'll be sorted into one of the treatment groups, and receive your study drug. For some trials, there is a chance you'll receive a placebo. Across Genetic Disorders trials 30% of clinical trials have a placebo. Typically, you'll be required to check-in with the clinic every month or so. The average trial length for Genetic Disorders is 12 months.

How do I participate in a study as a "healthy volunteer"?

Not all studies recruit healthy volunteers: usually, Phase 1 studies do. Participating as a healthy volunteer means you will go to a research facility several times over a few days or weeks to receive a dose of either the test treatment or a "placebo," which is a harmless substance that helps researchers compare results. You will have routine tests during these visits, and you'll be compensated for your time and travel, with the number of appointments and details varying by study.

What does the "phase" of a clinical trial mean?

The phase of a trial reveals what stage the drug is in to get approval for a specific condition. Phase 1 trials are the trials to collect safety data in humans. Phase 2 trials are those where the drug has some data showing safety in humans, but where further human data is needed on drug effectiveness. Phase 3 trials are in the final step before approval. The drug already has data showing both safety and effectiveness. As a general rule, Phase 3 trials are more promising than Phase 2, and Phase 2 trials are more promising than phase 1.

Do I need to be insured to participate in a Genetic Disorders medical study?

Clinical trials are almost always free to participants, and so do not require insurance. The only exception here are trials focused on cancer, because only a small part of the typical treatment plan is actually experimental. For these cancer trials, participants typically need insurance to cover all the non-experimental components.

What are the newest Genetic Disorders clinical trials?

Most recently, we added N-Acetylcysteine for Cornelia de Lange Syndrome, Sepofarsen for Leber Congenital Amaurosis and Gene Therapy for Spastic Paraplegia to the Power online platform.

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