Clinical trials · Maryland
Genetic Disease clinical trials in Maryland
We’re tracking 33 recruiting genetic disease studies with a site in Maryland — including Phase 2 studies, each written for real people, not researchers.
Recruiting studies in Maryland
- NCT00001405Recruiting
Blood Cell Collection Study for Immune and Blood Disorders
This study collects blood cells and bone marrow from people with immune system or blood disorders, and from healthy volunteers. Researchers will study these cells and may convert them into special stem cells (iPS cells) to better understand diseases and develop treatments.
Bethesda, MarylandAges 18–70 - NCT05432349Recruiting
Rett syndrome genetic registry for MECP2 changes
This trial is a registry that collects health and genetic information from people with Rett syndrome. It may help researchers better understand how MECP2 loss-of-function changes lead to symptoms and how to support patients.
Baltimore, MarylandAges birth–99 years - NCT02471287Recruiting
Genetics study for inherited eye conditions
This study looks at genes in people with inherited eye conditions and in close family members who may or may not have the condition. It helps researchers understand what causes these eye diseases and how they might be better studied in the future.
Bethesda, MarylandAges 1–120 - NCT00001373Recruiting
Understanding the genetics of autoinflammatory diseases
This study collects genetic samples and medical histories from people with autoinflammatory diseases (like Familial Mediterranean Fever), their relatives, and healthy volunteers to understand how these conditions run in families and what causes them. Participation mainly involves providing a mail-in DNA sample.
Baltimore, MarylandAges 2 months–115 years - NCT02450851Recruiting
Find answers for undiagnosed medical conditions using genetic testing
This study helps look for causes of health problems when no one has been able to give a diagnosis. It tests and shares medical and genetic information (with privacy protections) so researchers can better match findings to possible causes.
Bethesda, MarylandAges 1 month–100 years - NCT03624374Recruiting
Study of LBSL in people with DARS2 mutations
This trial is a natural history study, meaning it tracks how LBSL (a genetic condition) affects the brain, brainstem, and spinal cord over time. It may help researchers better understand disease patterns and provide information that could support future treatments.
Baltimore, MarylandAges Any age - NCT04994015RecruitingTeam says not enrolling
Genetic registry for people with Parkinson’s
This study builds a genetics “registry” of people diagnosed with Parkinson’s disease who agree to genetic testing. Your information may help researchers understand why Parkinson’s happens and improve future treatments.
Baltimore, MarylandAges 18 years+ - NCT01631617RecruitingPhase 2
Atopic dermatitis treatments and how they affect skin
This Phase 2 study tests different treatments for atopic dermatitis (eczema) by looking at changes in skin health. It may help people find safer, more effective ways to control moderate to severe eczema and related skin infections.
Bethesda, MarylandAges 2–50 - NCT06948110Recruiting
Searching for genes linked to autoimmune diseases
This study looks for genes that may be linked to autoimmune diseases by comparing the DNA of people with these conditions to healthy family members or volunteers. If you have an autoimmune disease or are a healthy person interested in helping research, this study may help scientists understand why these diseases run in families.
Bethesda, MarylandAges 18–115 - NCT00246857Recruiting
Screening study for inherited immune system conditions
This study screens people who may have an inherited immune system condition (like problems with immune cell growth or death) and their blood relatives. The goal is to understand the condition better by collecting blood samples for testing.
Bethesda, MarylandAges 1 month–100 years - NCT02077894Recruiting
Genetic testing to help identify inherited eye conditions
This study uses whole exome and whole genome genetic tests to look for DNA changes linked to inherited or congenital eye problems. It may help families and doctors better understand the cause of the eye condition and guide future care.
Bethesda, MarylandAges 1 day–120 years - NCT05589714Recruiting
Study your rare eye gene and track retinal disease over time
This study builds a registry and tracks the natural history of rare retinal dystrophies while also testing people for disease-causing gene variants. It may help researchers better understand what causes retinal degeneration and how it progresses.
Baltimore, MarylandAges 4 years+ - NCT03538639Recruiting
Study blood and tissue samples for vascular disease discovery
This study collects blood (and sometimes tissue samples) from people who may have vascular (blood vessel) problems and from certain pregnant participants. Researchers use the samples to better understand vascular disease and to help guide future research.
Bethesda, MarylandAges 2–100 - NCT06278337Recruiting
Moesin-associated immunodeficiency study
This study looks at a rare immune system condition caused by changes in the MOESIN gene. It aims to better understand the condition and may help develop future treatments.
Bethesda, MarylandAges 4–80 - NCT01316783Enrolling by invitation
Genetics study of obesity, diabetes, and heart risk
This study looks at genetic differences in adults from African diaspora groups to better understand risks for obesity, type 2 diabetes, and heart disease. You may help scientists learn why these conditions are more common in certain communities.
Bethesda, MarylandAges 18–120 - NCT00001532Recruiting
How Genes Affect Lung Disease Development
This research study examines how genetic factors contribute to various lung diseases, including alpha-1 antitrypsin deficiency, cystic fibrosis, and chronic obstructive pulmonary disease. Researchers want to understand why some people develop lung disease and how genetics plays a role, which may help improve treatment in the future.
Bethesda, MarylandAges 2–90 - NCT00032513Recruiting
Genetic study of chronic active Epstein-Barr virus disease
This research study looks for genetic factors that may explain why some people develop severe, long-lasting Epstein-Barr virus (EBV) infection. Researchers will study blood and tissue samples from patients with this rare condition, their healthy relatives, and unrelated volunteers to understand the disease better.
Bethesda, MarylandAges 1–120 - NCT00001215Enrolling by invitation
Understanding Genetic Lysosomal Storage Disorders
This study aims to understand genetic factors in lysosomal storage disorders—rare conditions where the body cannot break down certain substances. Researchers will collect information from patients with these disorders, their family members, and healthy volunteers to learn how these diseases develop and affect people over time.
Bethesda, MarylandAges 1 week–110 years - NCT04924075RecruitingPhase 2
Belzutifan for cancers linked to VHL or HIF-2α changes
This Phase 2 study tests belzutifan (MK-6482) to treat certain advanced cancers caused by specific gene or disease changes, including VHL-related tumors and HIF-2α related tumors. It may help shrink tumors or slow their growth in people whose cancer matches these genetic or disease patterns.
Baltimore, MarylandAges 12 years+ - NCT03510442Recruiting
Study of joint illness patterns and genes in juvenile and adult diseases
This study follows people with systemic juvenile idiopathic arthritis (sJIA), adult-onset Still’s disease (AOSD), and similar conditions to learn how the illness works over time. It also collects blood and family information to study genetics and explain what causes flare-ups, which may help future care.
Bethesda, MarylandAges 1 day–100 years - NCT00006150Recruiting
Understanding Hyper-IgE Syndrome: Natural History and Genetics
This study follows people with or suspected Hyper-IgE syndrome (a rare immune disorder causing repeated infections and skin problems) to understand how the condition develops, how best to manage it, and which genes are involved. Researchers also welcome healthy relatives of patients to help identify genetic patterns.
Bethesda, MarylandAges 1 month–120 years - NCT05519475RecruitingPhase 2
Gene-silencing medicine trial for adults with MASH and liver scarring
This Phase 2 study tests a gene-silencing treatment to improve chronic liver disease called MASH, especially in people with certain genetic risk. You may be eligible if you have MASH with moderate-to-advanced scarring and specific test results, and if other liver causes and recent substance/alcohol issues don’t apply.
Baltimore, MarylandAges 18–75 - NCT02190266Recruiting
Study genetics and cause of hard-to-treat Valley fever
This study looks at why “Valley fever” is difficult to treat or has spread beyond the lungs, and how a person’s genetics may be involved. You may be asked for blood or other samples for genetic testing and for storing samples for future research.
Bethesda, MarylandAges 2–100 - NCT06944067Recruiting
Genetic risk of immune response after blood transfusions in sickle cell disease
This study looks at whether certain genes make people with sickle cell disease more likely to develop an immune reaction to blood transfusions. It aims to help doctors predict transfusion risks and improve care.
Bethesda, MarylandAges 2–99
Genetic Disease trials by city in Maryland
Where these studies are running in Maryland
Institutions with a site for the recruiting genetic disease studies listed above.
- National Institutes of Health Clinical Center · 18 studies
- Johns Hopkins University · 2 studies
- Kennedy Krieger Institute
- Mercy Medical Center
- National Human Genome Research Institute (NHGRI)
- Sibley Memorial Hospital
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
- Suburban Hospital
What taking part in a genetic disease study involves
A screening visit first
Before anything else, the study team checks whether you fit — usually a visit with some tests. You can stop at any point, and screening is typically free.
Care at a nearby site
Study visits happen at a clinic or hospital taking part. Many studies cover the cost of the study treatment and related visits, and some reimburse travel.
You stay in control
Taking part is voluntary and you can leave a study at any time, for any reason, without affecting your regular care.
The team decides eligibility
Our fit check is a helpful first read, not a decision. The study team makes the final call after reviewing your health history.
Genetic Disease trials in other states
Common questions
- Are there genetic disease clinical trials in Maryland?
- Yes. We're currently tracking 33 recruiting genetic disease studies with a site in Maryland, each rewritten in plain language so you can see what it's testing and who it's for.
- How do I find out if I qualify for a genetic disease study in Maryland?
- Each study lists its eligibility rules — age, diagnosis, prior treatments. On every trial page we explain these in plain language and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Do I have to live in Maryland to take part?
- Not necessarily. These studies have a site in Maryland, but eligibility is about your health, not your address — some people travel to take part, and a few studies reimburse travel. The study team can tell you what's required.
- Does it cost anything to join a genetic disease trial?
- Using Clin2 is always free. Many trials cover the study treatment and related visits; some reimburse travel. The study team explains exactly what's covered before you decide.
Not the right time?
New genetic disease studies open in Maryland regularly. Set up a health profile and we’ll quietly watch for studies that fit you and email you when one opens.
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov. Talk with your doctor about whether a specific trial is right for you.