The purposes of this study is to examine efficacy of the IDEAL2 (Improving Diet and Exercise in ALL) caloric restriction and activity intervention integrated into HR B-ALL induction to reduce incidence of end of induction (EOI) MRD ≥0.01%.

The study will enroll male and female patients between 2 years to 25 years of age with sickle cell disease or beta thalassemia major, who do not have a matched related donor, and their doctor feels their condition should be treated with hematopoietic stem cell transplantation (HSCT).        

·       -For Sickle Cell Disease, individuals must have significant disease. We would consider you for transplant if you have had severe neurologic symptoms including stroke, frequent vaso-occlusive events (examples include pain episodes requiring pain management or acute chest syndrome), or administration of regular and frequent red blood cell transfusions to prevent disease complications. 

·       -For Beta-Thalassemia Major, you would be considered a candidate for transplant if you have genetic test confirming Beta Thalassemia and have required 8 or more transfusions per year in the past two years.

The purpose of this research study is to test a new method of cell processing for stem cell transplants with a closely matched unrelated donor. The new method is called alpha/beta T cell and B cell depletion using a device called CliniMACs. We want to see if this method can reduce some of the complications of the transplant and decrease the time it takes for the new stem cells to establish a new immune system. The use of the CliniMACs device for alpha/beta T and B cell depletion is experimental and is considered research.

The purpose of this study is to find out if an investigational drug called setmelanotide (RM-493) can help control body weight in people with certain genetic modifications in their genes that play a key role in the regulation of body weight. Males and females, age 6 to 65, with certain genetic variants (MC4R pathway) may be eligible to participate.  If you are confirmed eligible for the study, then participation will last up to 48 Weeks.  Participants will complete Screening (Up to 8 Weeks), Open-Label Treatment (Up to 16 Weeks), and may be eligible to continue in the Double-Blind Treatment Period (Up to 24 Weeks).  Participants will complete research procedures including physical exams, blood draws, ECGs, and questionnaires.  Participant will also need to self-inject the study drug once daily for the duration of their participation. 

Our team at the Congenital Hyperinsulinism Center at CHOP is working on a research study to determine whether an experimental gene therapy product, DTX401, is safe and effective in people with glycogen storage disease type Ia (GSDIa). The FDA has not approved this drug for the treatment of GSDIa but has approved us to use this drug as part of this clinical trial. The purpose of this research study is to see if DTX401 can help people with GSDIa have normal blood sugar levels and fewer episodes of hypoglycemia. DTX041 works by delivering copies of the G6PC gene to your liver through a one-time infusion. Participation in this study will last for 2 years and will involve 30 study visits. It is possible that treatment with the study drug infusion may improve your blood sugar levels. Travel costs will be covered by the study and you will receive compensation for participating.

We are recruiting patients with genetically confirmed primary mitochondrial myopathy who are at least 18 years old for a randomized, double-blind, placebo-controlled study of a new drug to treat this disorder. This study is designed to assess whether experimental drug ASP0367 is safe and effective for patients with mitochondrial myopathy. Participants will take the study drug orally once per day. This is a placebo-controlled study followed by an open-label extension, which means that during the treatment period some patients will receive ASP0367 and some will receive a placebo, which does not contain active study medication. At the end of the treatment period all participants will be offered ASP0367 for a 6-month period.

The study will last roughly 1 year and 8 months and involves at least 11 visits to CHOP, remote interviews, video assessments, and home visits for additional blood draws. If you are interested in learning more about this study, please visit ClinicalTrials.gov or contact the study team for additional information.

The Mitochondrial Medicine Program at the Children’s Hospital of Philadelphia is conducting a study focusing on non-invasive MRI procedures to measure biological activity within leg muscles of individuals, including both healthy volunteers and those with mitochondrial disease. This type of MRI is for research only, and it is not currently approved by the FDA. There is no direct benefit, but this research may contribute to future mitochondrial medicine. Your participation will last for approximately half a day during a visit at CHOP. We hope this research will contribute to the current knowledge of mitochondrial disease and improve diagnostic approaches. To learn more or inquire about this research study, please contact Sara Nguyen (nguyens2@chop.edu)

This study is being done to understand how the brain of autistic adolescents and adults process sound and language.  We hope the information gained from this study may lead to future therapies for language difficulties in autistic individuals.   

We want to learn more about how the brains of children on the autism spectrum process sounds and language. We hope what we learn will lead to future supports for language and communication differences in autism.

The goal of this research study is to compare sex and gender development differences between children ages 4-8 years who are on the autism spectrum with children who are not on the autism spectrum. 

The purpose of this study is to determine the safety and tolerability of an experimental form of therapy, known as UCART22 (“study drug”). UCART22 cells are special types of cells called T-cells that have been collected from a donor and then are genetically modified (changed). T-cells are related to your immune system, which helps to fight infection. These T-cells will be changed in a way that will allow the cells to identify and kill your tumor cells.

Patients with B-cell Acute Lymphoblastic Leukemia (B-ALL) whose disease has come back or have not responded to treatment may be eligible for this study.