Clinical trials · Pennsylvania
Genetic Disease clinical trials in Pennsylvania
We’re tracking 23 recruiting genetic disease studies with a site in Pennsylvania — including Phase 2, Phase 2/Phase 3 and Phase 3 studies, each written for real people, not researchers.
Recruiting studies in Pennsylvania
- 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.
Philadelphia, PennsylvaniaAges birth–99 years - NCT06057181Recruiting
Helix research network for adults
This study is a research network that collects health information from adults to better understand health and disease. It is open to most adults who are willing to follow the study procedures.
York, PennsylvaniaAges 18 years+ - NCT04208529Enrolling by invitationPhase 3
Long-term follow-up after receiving CTX001 infusion
This study follows people for a long time after they received CTX001 in an earlier (parent) study. It helps researchers learn about long-term safety and outcomes of the treatment.
Philadelphia, PennsylvaniaAges 2 years+ - 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.
Pittsburgh, PennsylvaniaAges 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.
Philadelphia, PennsylvaniaAges 1 month–100 years - NCT04848090Enrolling by invitation
Genetic testing for newborns in the hospital intensive care unit
This study uses whole-genome sequencing (a DNA test that looks across the genome) for newborns in the intensive care unit when doctors suspect a genetic condition. It aims to help identify possible genetic causes of illness and improve understanding for families and clinicians.
Pittsburgh, PennsylvaniaAges Up to 1 year - 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.
Philadelphia, PennsylvaniaAges 18 years+ - NCT05552157RecruitingPhase 2/Phase 3
Study of treatments for early onset Alzheimer's caused by genetic mutations
This trial tests potential treatments for people who are at risk for or have early onset Alzheimer's disease due to a specific genetic mutation. It aims to find treatments that could slow or prevent symptoms.
Pittsburgh, PennsylvaniaAges 18 years+ - NCT06647498RecruitingPhase 2/Phase 3
Study of a treatment for early-onset Alzheimer's caused by a gene change
This study tests a potential disease-modifying treatment for people who have a specific gene mutation that causes early-onset Alzheimer's disease. The goal is to see if the treatment can delay or prevent symptoms.
Pittsburgh, PennsylvaniaAges 18 years+ - NCT03301038RecruitingPhase 2
Rifampin for a rare calcium disorder caused by CYP24A1
This trial tests rifampin to improve high blood and/or urine calcium that happens in people with CYP24A1 gene changes. It also checks safety by watching liver and kidney blood tests and pregnancy status.
Philadelphia, PennsylvaniaAges 6 months–65 years - NCT06555965Recruiting
STXBP1 and SYNGAP1 natural history study
This study follows people with STXBP1 or SYNGAP1 gene changes over time to learn more about how these conditions affect the body and mind. It does not test a treatment but helps researchers understand the natural course of the disorder.
Philadelphia, PennsylvaniaAges Any age - 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.
Philadelphia, PennsylvaniaAges 4 years+ - NCT06374719Recruiting
TNNT1 myopathy natural history study
This study follows people with a rare genetic muscle condition called TNNT1 myopathy over time. Researchers will track how the disease progresses to better understand it and help plan future treatments.
Gordonville, PennsylvaniaAges Any age - NCT01694940Recruiting
Mitochondrial disease registry and sample collection study
This trial builds a large database and collection of lab results, and possibly tissue samples, from people with suspected or diagnosed mitochondrial conditions. It helps researchers learn more about these disorders and mitochondrial DNA changes, which may improve future diagnosis and treatments.
Pittsburgh, PennsylvaniaAges Any age - 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.
Philadelphia, PennsylvaniaAges 4–80 - NCT06962059Recruiting
Healthy volunteers with ovaries needed for study
This study is looking for healthy volunteers who still have their ovaries and have not had cancer or certain genetic mutations. Researchers want to learn more about ovarian health.
Philadelphia, PennsylvaniaAges 30–50 - NCT04472338Recruiting
Prostate cancer screening for people with higher genetic risk
This study looks at prostate cancer screening for people who may be at higher risk because of a specific inherited (genetic) change. It may help your care team find the best screening approach to catch aggressive prostate cancer earlier.
Philadelphia, PennsylvaniaAges 40 years+ - NCT06377033Recruiting
Using health records to advance genomic medicine for all
This study uses electronic health records to learn how to improve genomic medicine across a diverse health system. It may help make DNA-based healthcare more accessible and effective for people with certain conditions.
Philadelphia, PennsylvaniaAges 18 years+ - NCT02927158Recruiting
Genetic testing study for Amish and Mennonite community members
This study uses genetic testing to learn more about the causes of health conditions in Amish and Mennonite people. It may help researchers understand patterns in this community and improve future care.
Pittsburgh, PennsylvaniaAges Up to 100 years - NCT03056794Recruiting
Study of genetic and natural history of PDC deficiency
This study looks at how pyruvate dehydrogenase complex (PDC) deficiency affects people over time and what genes are involved. It mainly helps by building genetic and health data, which may improve future care and understanding of the condition.
Pittsburgh, PennsylvaniaAges Any age - 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.
Philadelphia, PennsylvaniaAges 12 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.
Philadelphia, PennsylvaniaAges 18–75 - NCT01193088Recruiting
Study genetics to find who modifies Charcot-Marie-Tooth (CMT)
This study looks at DNA changes in families with Charcot-Marie-Tooth (CMT), especially a known gene duplication called PMP22. It aims to understand what other genetic factors may change how CMT shows up, which could help future diagnosis and care.
Philadelphia, PennsylvaniaAges Any age
Genetic Disease trials by city in Pennsylvania
Where these studies are running in Pennsylvania
Institutions with a site for the recruiting genetic disease studies listed above.
- University of Pennsylvania · 8 studies
- Children's Hospital of Philadelphia · 7 studies
- University of Pittsburgh · 4 studies
- UPMC Children's Hospital of Pittsburgh · 3 studies
- Clinic for Special Children
- Geisinger Medical Center
- Penn State Milton S Hershey Medical Center
- Perelman Center for Advanced Medicine
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 Pennsylvania?
- Yes. We're currently tracking 23 recruiting genetic disease studies with a site in Pennsylvania, 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 Pennsylvania?
- 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 Pennsylvania to take part?
- Not necessarily. These studies have a site in Pennsylvania, 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 Pennsylvania 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.