Research Studies

Division of Human Genetics Research Studies

Find research studies available to children cared for by the Division of Human Genetics team.
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Clinical trial
Adults (7)
Children (7)
One-Time Visit Studies (1)
Remote (Online / Phone Call Only) Studies (1)

Clinical Trial Phases
Pilot (1)
Phase I (3)
Phase II (5)
N/A (3)

Recruitment Status
Recruiting (7)
Non-recruiting (2)

Related Specialties and Programs
Division of Human Genetics (9)
Division of Otolaryngology (Ear, Nose and Throat) (1)
Metabolic Disease Program (1)
Mitochondrial Medicine Program (1)
Roberts Individualized Medical Genetics Center (IMGC) (1)

Specialty
Genetics (9)
Metabolic Diseases (1)
Otolaryngology (Ear, Nose and Throat) (1)

CTX and Idiopathic Bilateral Cataracts in Pediatric Patients
CTX is typically a highly progressive disease, with case reports of symptoms that first appear at any time from birth through adulthood and then worsen over time. Because idiopathic bilateral cataracts occur at an early age in many children with CTX, biomarker testing of these children presents an opportunity for diagnosing children with CTX. Eligible participants will be asked to give a small blood sample and urine sample, and may have genetic testing done to see if they have the gene for CTX. This study will take place on 1 visit for approximately 30 minutes.

Phase: N/A

Actively recruiting: No

Category: Adults, Children, One-Time Visit Studies

Hunter Syndrome JR-141 Study
The purpose of this study is to find out if JR-141, an experimental drug, works better than the standard treatment, idursulfase, for MPS II (Hunter Syndrome) and how safe and effective it is in the management of central nervous system symptoms (such as brain or body function loss) and other body symptoms (including lungs, ears, heart, kidneys, and eyes, as well as any type of liver, bone or joint abnormalities) related to MPS II. Since JR-141 is an investigational drug, it has not been approved by the Food and Drug Administration (FDA).

Phase: Phase II

Actively recruiting: Yes

Category: Adults, Children

mRNA-3927 for Propionic Acidemia Study
The purpose of this study is to find out more about an investigational drug called mRNA-3927 (the study drug). An "investigational drug" is a drug that is being tested and is not approved by the U.S. Food and Drug Administration (FDA). We want to see how safe the study drug is and if it works for participants with propionic acidemia (PA).

Phase: Phase I, Phase II

Actively recruiting: Yes

Category: Adults, Children

Natural History of Homocystinuria
The goal of this study is to observe patients with Homocystinuria (CBSDH) over 3 years to learn how their disease is managed under regular circumstances. This study does not involve any investigational medications, but will provide information to researchers who are currently developing a medication to treat the disease. The study has 5 main parts, all of which are provided free of charge to participants: DXA exam, blood draws, ophthalmology exam, cognitive testing, and physical exams. To learn more about the study, please contact our team via the information listed below.

Phase: N/A

Actively recruiting: Yes

Category: Adults, Children

OTOF Hearing Loss Gene Therapy
In this gene therapy study, we will treat children with deafness caused by an abnormal gene called otoferlin (OTOF).  We will try to transfer the normal human OTOF gene into cells of the inner ear, using a modified form of a non-disease-causing virus.  This study will see if this gene therapy is safe and improves hearing. The study drug, and the device to deliver it to the ear, are investigational, meaning that they are not approved by the United States Food and Drug Administration (FDA).  This study is the first time that this study drug, and the device to deliver it, will be used in humans.
The study drug is placed into the inner ear during a surgical procedure.  Children are then monitored for about 2 years for any side effects, for any effects on the body, and for hearing improvement.  Different doses will be tested for their safety and effectiveness.  There are about 14 visits to CHOP, including one surgery visit including an overnight hospital stay.   Participants undergo follow up audiology tests monthly for 3 months, then at 6 months, then at 1 and 2 years.  This includes auditory brainstem response (ABR) testing, which may require sedation.  There are also repeated research blood tests, urine samples, physical examinations, and interviews.To be eligible, children must be age 2-17 and have profound deafness in both ears.  Children are not eligible if they have already received cochlear implants in both ears.  Once in this study, children should not undergo cochlear implantation in the treated ear, unless the treatment fails to improve hearing after a 6 month period.The main risks of this study are from the study drug and the surgery to deliver it.  These include injury to the inner ear from the drug or surgery, injury to the eardrum, risks of anesthesia for the surgery and sedation for the ABR tests, local site inflammation or infection, injury to the liver, and delay of cochlear implantation in the treated ear if the treatment does not improve hearing.  Since the study drug has never been given to humans before, it is possible there are other risks we do not know about yet.
Participants might benefit if the study drug improves their hearing.  However, it is possible they will not benefit directly from participating in this study. 

Phase: Phase I, Phase II

Actively recruiting: Yes

Category: Children

PRISM and CFN for PMD
Primary mitochondrial diseases (PMD) are a group of energy deficiency disorders that are typically progressive and range in onset and severity. Individuals with PMD experience a variety of clinical symptoms that not only affect their physical health but significantly impact their daily life.
The goal of this study is to find the best way to help adults with PMD deal with the stress of their condition, and to help them be better able to “bounce back,” or be resilient. In order to do this, we are going to test two interventions. The first is called Promoting Resilience in Stress Management (PRISM). The second is called clinical-focused narrative (CFN) intervention.
The study period will last for about one month and will consist of five online visits and a one-time online discussion group.

Phase: Pilot

Actively recruiting: Yes

Category: Adults, Remote (Online / Phone Call Only) Studies

Registry of Patients with Lysosomal Acid Lipase Deficiency
This is an observational registry study intended to document the course of Lysosomal Acid Lipase Deficiency (LALD), in order to further understand the disease, its progression, which treatments are effective, and any related complications. As an observational study, no additional study visits - outside of subjects usual Metabolism clinic visit - are required. Eligible patients will be asked to sign an informed consent form prior to enrollment and will periodically have the option of completing questionnaires about their quality of life. 

Phase: N/A

Actively recruiting: Yes

Category: Adults, Children

REN001 for Adults with Primary Mitochondrial Myopathy
The purpose of this new clinical trial is to investigate study drug “REN001” in adult patients with Primary Mitochondrial Myopathy. REN001 is currently not approved by the U.S. Food and Drug Administration nor any other regulatory agencies for this disease; it is considered an experimental drug. The study period will last for approximately 9 months and will include at least 4 outpatient visits at CHOP, where participants will be provided the study drug or placebo and monitored for safety. The study also involves blood and urine tests, cardiac tests, physical exercise tests, and other study procedures. For more information: https://www.clinicaltrials.gov/ct2/show/NCT04535609 Participants will be able to receive travel support and reimbursement for related expenses.

Phase: Phase II

Actively recruiting: No

Category: Adults

RGX-121 Gene Therapy in Patients With MPS II (Hunter Syndrome)
The purpose of this study is to look at the safety and tolerability of RBX-121, a one-time gene therapy, in subjects with MPS II (Hunter Syndrome). You may be eligible for this study if you are a male between the ages of 4 months to 5 years old. Reimbursement for travel and research procedures will be provided. This study involves blood draws, interviews, urine collection, genetic testing, general anesthesia, lumbar punctures, MRI, gene therapy, lumbar puncture, ultrasound, ECG/echocardiogram and physical and neurological examinations. If you have questions or would like to learn more about the study, please contact the study team at MetabolismResearch@email.chop.edu.

Phase: Phase I, Phase II

Actively recruiting: Yes

Category: Children