Clinical trials · Pennsylvania
Down Syndrome clinical trials in Pennsylvania
We’re tracking 139 recruiting down syndrome studies with a site in Pennsylvania — including Early Phase 1, Phase 1/Phase 2, Phase 2, Phase 2/Phase 3 and Phase 3 studies, each written for real people, not researchers.
Recruiting studies in Pennsylvania
- NCT01238250Recruiting
Online autism genetics study for families with certain genetic changes
This study asks people with specific genetic changes linked to autism and their family members to complete online tasks and questionnaires. It may help researchers better understand how these genetic differences relate to autism traits.
Lewisburg, PennsylvaniaAges Any age - NCT03396562Recruiting
Study of early development in babies with extra sex chromosomes
This study follows infants and young children with conditions caused by having an extra sex chromosome (like XXY, XYY, or XXX) to learn how health and development unfold over time. It may help families and doctors understand what to expect and what support could be helpful.
Philadelphia, PennsylvaniaAges 1 month–1.1 years - NCT03047369Recruiting
Myelin brain disorder research biobank for samples and data
This study collects brain-related medical information and biological samples to help researchers better understand leukodystrophies and other white-matter brain disorders. It may help future diagnosis and treatments by building a valuable “biobank” of patient data and samples.
Philadelphia, PennsylvaniaAges Any age - NCT07003100Recruiting
Studying mogamulizumab rash in mycosis fungoides or sezary syndrome
This study looks at a common skin rash caused by the drug mogamulizumab in patients with certain types of lymphoma. It aims to learn more about the rash and how to manage it, so your experience can help future patients.
Philadelphia, PennsylvaniaAges 18 years+ - NCT01401998Recruiting
Study collecting information from people with ARPKD
This study looks at medical records, imaging, and genetic testing for people with autosomal recessive polycystic kidney disease (ARPKD). It may help researchers better understand the condition and how it affects the liver and kidneys.
Philadelphia, PennsylvaniaAges Up to 18 years - NCT05702645Recruiting
Down syndrome long-term study after leukemia treatment
This study follows children and young adults with Down syndrome who have survived acute leukemia (ALL or AML) to learn about their longer-term health after treatment ends. It may help families and doctors understand what health problems to watch for and how to provide better follow-up care.
Philadelphia, PennsylvaniaAges 6–39 - 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 - NCT07519395RecruitingPhase 2
Camlipixant for IBS with diarrhea or mixed symptoms
This study tests an investigational drug, camlipixant, to see if it can reduce belly pain and diarrhea or mixed bowel symptoms in adults with irritable bowel syndrome (IBS). If you've tried other IBS treatments without enough relief, this might be an option.
Harrisburg, PennsylvaniaAges 18–80 - NCT07523581RecruitingPhase 2
Study of an experimental drug for Alport syndrome
This study tests an experimental medicine for people with Alport syndrome caused by a specific type of gene change (nonsense mutation). The drug may help reduce protein in the urine and slow kidney decline. It is a blinded study, so you won't know if you get the real drug or a placebo.
Philadelphia, PennsylvaniaAges 12 years+ - NCT07284641RecruitingPhase 2
Stem cell transplant for immune disorders
This trial tests a stem cell transplant to treat common variable immunodeficiency (CVID) and other immune problems. It aims to replace a faulty immune system with a healthy one from a donor.
Pittsburgh, PennsylvaniaAges 5–40 - NCT06930417Recruiting
Williams syndrome and related 7q11.23 changes study
This study follows people with Williams syndrome, 7q11.23 duplication, or related genetic changes over time to understand how these conditions affect health and development. It also includes close family members to learn about the genetics.
Philadelphia, PennsylvaniaAges Any age - NCT06789913RecruitingPhase 2
Testing RLY-2608 for growth disorders linked to PIK3CA mutations
This trial tests a new medicine, RLY-2608, that targets the specific genetic change (PIK3CA mutation) causing overgrowth conditions. It aims to see if the drug can slow or stop the growth of affected tissues.
Philadelphia, PennsylvaniaAges 2 years+ - NCT05932589Recruiting
Study of brain signals as signs of Rett syndrome
This study measures brain and nerve activity (brain signals) to find patterns that match Rett syndrome. It may help researchers better track Rett changes over time and develop more precise ways to measure response in future treatments.
Philadelphia, PennsylvaniaAges 1–18 - NCT05937594Recruiting
Testing microRNA markers to spot newborn opioid withdrawal
This study looks at tiny genetic signals (microRNA) in newborn samples to identify neonatal opioid withdrawal syndrome. It may help doctors recognize withdrawal sooner, so babies can get the right care faster.
Hershey, PennsylvaniaAges 1 day–5 days - NCT05306080RecruitingEarly Phase 1
Rescue treatment for CAR T side effects in adults
This trial tests a rescue medicine given to treat severe immune over-reactions that can happen after CAR T cell therapy, such as cytokine release syndrome and an HLH-like syndrome. It may help calm the immune response if you are already enrolled in a specific CAR T study.
Philadelphia, PennsylvaniaAges 18 years+ - NCT04726241RecruitingPhase 1/Phase 2
Testing blood and bone marrow samples in young leukemia patients
This trial looks at blood and bone marrow samples from children and teens whose leukemia has come back or is hard to treat. The goal is to better understand the disease and guide future options for these patients.
Hershey, PennsylvaniaAges Up to 22 years - NCT04571658Recruiting
NEPTUNE Match study linking you to possible kidney research trials
This study is an add-on process that uses information from the NEPTUNE kidney study to see whether you might be able to join other kidney research trials. It may help connect eligible people with appropriate new treatment studies when they become available.
Philadelphia, PennsylvaniaAges 1–80 - NCT06776783RecruitingPhase 3
Testing a new surfactant for breathing problems in premature babies
This study tests a new medicine called APC-0101, a type of surfactant, for premature babies with breathing problems (respiratory distress syndrome). It may help their lungs work better and reduce the need for more breathing support.
Pittsburgh, PennsylvaniaAges 1 hour–1 day - NCT07503444RecruitingPhase 3
Fenfluramine for Rett syndrome symptoms
This study tests whether fenfluramine, a medication already used for seizures, can help people with Rett syndrome. It aims to see if it improves daily life and reduces symptoms.
Philadelphia, PennsylvaniaAges 5–35 - NCT07860021RecruitingPhase 2/Phase 3
Vyvgart for stiff person syndrome
This trial tests whether a drug called Vyvgart (hyaluronidase-fjjo) can help people with stiff person syndrome who still have symptoms like stiffness, painful muscle spasms, and trouble walking despite other treatments. The goal is to see if it improves these symptoms and how well it works.
Philadelphia, PennsylvaniaAges 25–80 - NCT07742735RecruitingPhase 3
Study of apraglutide for short bowel syndrome with intestinal failure
This study tests a new medicine called apraglutide, given as a shot, to see if it can help adults with short bowel syndrome and intestinal failure reduce their need for intravenous nutrition (parenteral support). The study compares apraglutide to a placebo (a shot with no medicine) to check if it is safe and effective.
Philadelphia, PennsylvaniaAges 18 years+ - NCT06690801Recruiting
Nitric oxide breathing gas for children with lung failure
This trial tests whether adding a breathing gas called nitric oxide to standard care helps children with severe lung failure (ARDS) recover faster. It is for children on a breathing machine who still have low oxygen levels.
Philadelphia, PennsylvaniaAges birth–21 years - NCT07625579Recruiting
Collaboration for Down Syndrome Progress Research Study
This research study aims to better understand Down syndrome by collecting health information, family history, and sometimes brain imaging or sleep data from children and adults with Down syndrome and their families. The goal is to advance knowledge that could improve health and development for people with Down syndrome.
Philadelphia, PennsylvaniaAges Any age - NCT07576036Enrolling by invitation
Study of severe low sodium and brain safety during treatment
This is a retrospective study (meaning researchers look back at medical records) of patients who had very low sodium levels in their blood when admitted to the hospital. Researchers want to understand the link between how quickly doctors correct low sodium and a rare brain condition called osmotic demyelination syndrome.
Pittsburgh, PennsylvaniaAges 18 years+
Down Syndrome trials by city in Pennsylvania
Where these studies are running in Pennsylvania
Institutions with a site for the recruiting down syndrome studies listed above.
- Children's Hospital of Philadelphia · 9 studies
- University of Pennsylvania · 4 studies
- UPMC Children's Hospital of Pittsburgh · 3 studies
- Hospital of the University of Pennsylvania · 2 studies
- Ep0247 21003
- Geisinger Health System
- Geisinger Medical Center
- GSK Investigational Site
What taking part in a down syndrome 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.
Down Syndrome trials in other states
Common questions
- Are there down syndrome clinical trials in Pennsylvania?
- Yes. We're currently tracking 139 recruiting down syndrome 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 down syndrome 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 down syndrome 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 down syndrome 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.