Clinical trials · Philadelphia, PA
Down Syndrome clinical trials in Philadelphia
We’re tracking 108 recruiting down syndrome studies with a site in or near Philadelphia — including Early Phase 1, Phase 1, Phase 1/Phase 2, Phase 2 and Phase 3 studies, each written for real people, not researchers.
Recruiting studies near Philadelphia
- NCT03568669Recruiting
Testing thinking and learning in congenital central hypoventilation syndrome
This study looks at thinking and memory in people with congenital central hypoventilation syndrome (CCHS) to better understand how the condition affects the brain. It may help researchers measure changes over time and guide future care.
Philadelphia, PennsylvaniaAges 3–85 - NCT04715399Recruiting
Research study collecting data for neurodegenerative diseases
This study collects health information from people with neurodegenerative diseases, some family members, and healthy controls to help researchers better understand these conditions. It may help future diagnosis and research, and participation may include noninvasive checks and other procedures depending on your situation.
Philadelphia, PennsylvaniaAges 18 years+ - NCT02967068Recruiting
Share your study tissue for future research
This study is a “tissue repository” that collects and stores leftover tissue from other approved VCRC studies. If you already took part in one of those studies, you may be able to let researchers use your tissue to help answer future questions.
Philadelphia, PennsylvaniaAges Any age - NCT00315380Recruiting
Study following people with eosinophilic granulomatosis with polyangiitis
This study looks at the health course of people who have eosinophilic granulomatosis with polyangiitis, a rare inflammatory condition. Your participation may help researchers better understand how the illness changes over time.
Philadelphia, PennsylvaniaAges Any age - NCT07798700Recruiting
Biofluid research for brain and movement disorders
This study collects blood, spinal fluid, and other samples from people with brain or movement disorders, their family members, and healthy volunteers. The goal is to find better ways to diagnose and understand these conditions.
Philadelphia, PennsylvaniaAges 18 years+ - NCT01186913Enrolling by invitation
Natural history study for severe combined immune deficiency (SCID)
This study follows children and adults with SCID and related immune disorders to understand how the illness behaves over time. It also helps researchers learn which testing results and genetic types of SCID match different treatment plans.
Philadelphia, PennsylvaniaAges Any age - NCT00358943Recruiting
Gaucher disease registry and pregnancy tracking study
This study creates a large, long-term record of people with Gaucher disease and details about pregnancy outcomes. It helps researchers better understand Gaucher over a person’s life and during pregnancy.
Philadelphia, PennsylvaniaAges Any age - NCT02000089RecruitingPhase 3
Pancreas screening study for people at high cancer risk
This Phase 3 study tests a structured plan for checking the pancreas early in people with a higher-than-usual risk of pancreatic cancer. The goal is to find changes sooner, when treatment may be easier.
Philadelphia, PennsylvaniaAges 18 years+ - NCT05432648Recruiting
Fiber food introduction for children with short bowel syndrome
This trial tests if slowly adding fiber to the diet helps children with short bowel syndrome. It looks at how fiber affects digestion and overall health.
Philadelphia, PennsylvaniaAges 4 months–18 years - NCT06843811Enrolling by invitationPhase 2
Sirolimus for Leigh Syndrome
This trial tests if sirolimus can help people with Leigh syndrome. It aims to see if the drug can improve neurological symptoms and is looking for participants aged 6 months to 55 years.
Philadelphia, PennsylvaniaAges 6 months–55 years - NCT06078553Recruiting
Natural history study of congenital myasthenic syndromes (CMS)
This study follows people with congenital myasthenic syndrome (CMS) caused by changes in certain genes (DOK7, MUSK, AGRN, or LRP4) over time. It does not test any new drug, but helps researchers understand how the condition changes and how to plan future treatments.
Philadelphia, PennsylvaniaAges 2 years+ - 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+ - NCT02356653RecruitingEarly Phase 1
Stem cell transplant help for children lacking a matching sibling
This expanded-access study offers a specific type of stem cell transplant preparation that removes certain immune cells (CD3 and CD19) from donor stem cells. It is for children who need a transplant but do not have a fully matched sibling donor and whose team cannot use the hospital’s usual matching device protocol.
Philadelphia, PennsylvaniaAges Up to 30 years - NCT06247787RecruitingPhase 1
Imetelstat plus chemo for relapsed leukemia in kids
This trial tests a new drug called imetelstat combined with two chemotherapy drugs (fludarabine and cytarabine) for children and teens with acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), or juvenile myelomonocytic leukemia (JMML) that has come back or not responded to treatment. The goal is to find the safest dose of imetelstat and see if it helps control the cancer.
Philadelphia, PennsylvaniaAges 1–18 - NCT06839456RecruitingPhase 1/Phase 2
Stem cell addback to prevent infections after transplant
This trial tests whether adding back certain immune cells after a stem cell transplant can help prevent serious viral or fungal infections. It's for children and young adults up to age 25 who need a transplant for a blood cancer or other curable disease.
Philadelphia, PennsylvaniaAges 1 month–25 years - NCT02852031Recruiting
Care program for newborns needing the Norwood procedure
This trial focuses on improving care for babies born with certain complex heart conditions where only one pumping chamber works. It is meant for babies (including unborn babies) who are planned to have the Norwood procedure, which is a common early surgery.
Philadelphia, PennsylvaniaAges Up to 1.3 years - NCT03011814RecruitingPhase 1/Phase 2
Durvalumab plus lenalidomide for relapsed T-cell lymphoma
This study tests a combination of two drugs—durvalumab (an immunotherapy) and lenalidomide (a targeted therapy)—to see if they are safe and effective for people with T-cell lymphoma that has come back or not responded to treatment. It aims to harness your immune system to fight the cancer while also attacking the cancer cells directly.
Philadelphia, PennsylvaniaAges 18 years+ - NCT06840496RecruitingPhase 3
Study of oral NA-921 vs placebo for girls and women with Rett syndrome
This trial tests an oral medication called NA-921 in females with Rett syndrome to see if it works better than a placebo. It may be an option for those who have a confirmed MECP2 gene mutation and stable seizure patterns.
Philadelphia, PennsylvaniaAges 5–20 - NCT02780297Recruiting
Study of rare stone-causing kidney conditions
This study is for people with certain rare kidney conditions that can cause kidney stones. It aims to learn how these conditions behave over time and may help improve future care.
Philadelphia, PennsylvaniaAges Any age - NCT06852365RecruitingPhase 2
Birth control pill and resistant starch for PCOS
This trial tests whether adding a type of fiber (resistant starch) to a common birth control pill can improve health in women with PCOS. It aims to see if this combination helps with weight, hormones, and metabolism.
Philadelphia, PennsylvaniaAges 18–40 - NCT06789445RecruitingPhase 1/Phase 2
Cell therapy for inherited retinal disease (CLARICO)
This study tests a new cell therapy (OpCT-001) for adults with inherited retinal diseases that affect the light-sensing cells. It aims to see if the treatment is safe and possibly helps improve vision.
Philadelphia, PennsylvaniaAges 18 years+ - NCT05849662RecruitingPhase 1/Phase 2
Trametinib plus azacitidine for newly diagnosed JMML
This trial studies whether trametinib and azacitidine can control juvenile myelomonocytic leukemia (JMML) soon after diagnosis. It’s designed to test safety and how well the treatment works in children and young adults who meet specific leukemia and genetic criteria.
Philadelphia, PennsylvaniaAges 1 month–21 years - NCT05382754Recruiting
Home sleep testing for children being checked for sleep apnea
This trial tests whether home sleep testing can help diagnose sleep apnea in children. It is for kids who are already being referred for an in-lab sleep study at CHOP.
Philadelphia, PennsylvaniaAges 5–12 - NCT04462770RecruitingPhase 3
Clemizole trial for children and adults with Dravet syndrome
This Phase 3 study tests EPX-100 (clemizole) to help reduce seizures in people with Dravet syndrome whose seizures are not fully controlled by current anti-seizure medicines. You may consider this study if your Dravet diagnosis is confirmed and your medical situation fits the specific rules about medicines and seizure causes.
Philadelphia, PennsylvaniaAges 2 years+
Hear when a new Down Syndrome trial opens near Philadelphia, PA
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Down Syndrome trials in other cities
Where these studies are running near Philadelphia
Institutions with a site for the recruiting down syndrome studies listed above.
- Children's Hospital of Philadelphia · 15 studies
- University of Pennsylvania · 6 studies
- Alfred I. duPont Hospital for Children/Nemours
- Biomed Testing Facility #BIO-17-19104
- Cooper University Hospital
- Mid Atlantic Retina / Wills Eye
- Nemours Cardiac Center, A.I DuPont Hospital for Children
- The Children's Hospital of Philadelphia- Site Number : 840034
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.
Looking wider? See all recruiting down syndrome studies in Pennsylvania.
Common questions
- Are there down syndrome clinical trials near Philadelphia?
- Yes. We're currently tracking 108 recruiting down syndrome studies with a site near Philadelphia, 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 near Philadelphia?
- 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 Philadelphia to take part?
- Not necessarily. These studies have a site near Philadelphia, 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 near Philadelphia regularly. Set up a health profile and we’ll quietly watch for studies that fit you and email you when one opens.