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Research Studies Finder

Research Studies Finder

Use this finder to find a study or trial that is the right fit for your child. Also, filter results by phase — which are the specific steps researchers take throughout the trial to find answers, solutions and cures.

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Showing 1 - 10 of 74 results

Food Genetics Behavior Study (FOODIE)

The University of Pennsylvania, in collaboration with CHOP, is conducting a study to find out more about how behaviors (eating, physical activity, sleep) and genes affect growth and development in children. Participants will include children, ages 5 to 7, and their mothers.Families will be asked to participate in a screening visit and 3 study visits over 1 year. Child participants will be asked to:

  • Eat dinner in our Center (visit 1);
  • Have their physical activity and sleep assessed over 14 days with a wrist-work activity monitor;
  • Have a saliva sample collected (visit 2), and
  • Have body measurements taken (visits 2 and 3).
Mothers will be asked to complete questionnaires throughout the study. Participants will be compensated for their time.

Phase: N/A

Actively recruiting: Yes

Category: Adults, Children, Healthy Controls

Executive Function and Healthcare Transition in IMD

Inherited Metabolic Disorders (IMD) are single gene conditions that affect metabolic pathways. IMD are individually rare, but collectively common. Advances in diagnosis and management have greatly increased the life expectancy of patients with IMD. Gaps in our knowledge about adult neurocognitive outcomes and quality of life confounds the ability to obtain critical therapeutic supports, including social services and vocational rehabilitation. The lack of information also complicates our ability to provide anticipatory guidance to the families of younger patients about prognosis and how to optimize outcome. This study examines neurocognitive outcomes for adults with IMD with a focus on executive and adaptive function, domains necessary for managing life skills, using an entirely remote format.

Participants in this study will complete online surveys on their life skills, medical self-management skills, and quality of life. Thinking skills will be assessed through online questionnaires and a web-based collection of games that test executive function. Some participants will be asked to take part in an interview about their experience as an adult and the transition from pediatric to adult-centered healthcare.

Phase: Pilot

Actively recruiting: Yes

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

CrCEST MRI in Mitochondrial Disease

The Mitochondrial Medicine Program at the Childrens 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)

Phase: N/A

Actively recruiting: Yes

Category: Adults, Children, Healthy Controls, MRI/Imaging Studies, One-Time Visit Studies

MEG Biomarkers in Autistic Adults

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.

Phase: N/A

Actively recruiting: Yes

Category: Adults, Children, Healthy Controls, MRI/Imaging Studies

HRpQCT in Childhood Osteoporosis

Are you interested in participating in a research study about bone health in children and adolescents at high risk of suffering a broken bone? Dr. Weber at CHOP is looking for people between 5-19 years old with a genetic or a long-term medical condition affecting bone strength to participate in this study.We are also recruiting children between 5-19 years old with no medical conditions as healthy participants in the study.Participation will require a single visit at The Childrens Hospital of Philadelphia, which will include bone scans, a muscle strength evaluation by a physical therapist, blood and urine tests, and questionnaires. Eligible participants who complete the study will be compensated for their time.

Phase: Pilot

Actively recruiting: Yes

Category: Adults, Children, Healthy Controls, One-Time Visit Studies

Pediatric Neurodegenerative Biorepository

The purpose of this study is to create a biorepository, which is a collection of biological samples and the data associated with them, to support our ongoing and future studies on ultra-rare pediatric neurodegenerative disorders. These include disorders associated with mitochondrial and autophagic dysfunction such as TBCK, congenital disorders of autophagy, mitochondrial disorders, and cases of neurodegeneration without known genetic diagnoses. Ultra-rare disorders affect 1 in every 50,000 kids.

Using the biological samples we collect, we intend to derive cellular disease models to study these disorders at a molecular level and screen for therapeutic targets. We also intend to look for biomarkers that may inform outcome measures in future interventions and clinical trials. By looking at the cells in these biological samples, we hope to understand how they work, what is wrong with them, and how we could fix them. The overarching aim is to yield generalizable knowledge about these disorders and translate it into better diagnostic awareness and clinical care.

Phase: N/A

Actively recruiting: Yes

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

ECHO

ECHO is a nationwide research program whose mission is to improve the health of children for generations to come. The goal is to learn how the environment affects children's health and development, and how it interacts with genetic information. The environment includes things that children may experience throughout their lives or even before they are born, like the air they breathe, foods they eat, interactions with other people and the neighborhoods where they live. Children ages 5-11 and a biological parent are invited to participate. The study involves one visit, with in-person and remote components, in which the child will complete a cognitive assessment and body measurements, and both the child and parent will complete questionnaires and provide bio-samples (saliva, blood, hair and toenails).

Phase: N/A

Actively recruiting: No

Category: Children, Healthy Controls, One-Time Visit Studies

Skeletal Growth Study

The purpose of this study is to look at growth using a novel technique calleddiffusion tensor imaging (DTI) of the growth plate in the knee. DTI images are obtained using magnetic resonance imaging (MRI) which is a minimal risk procedure that involves no radiation.

We have been studying growth using DTI for more than a decade, and we have shown that it is an accurate method for predicting growth in children. With this study, we hope to gain data to support DTI becoming a tool that can be used by physicians around the world to understand and predict growth in children.

Phase: N/A

Actively recruiting: No

Category: Children, Healthy Controls

Phenotyping Congenital Hyperinsulinism

The Congenital Hyperinsulinism Center at the Childrens Hospital of Philadelphia is working on a research study to better understand how people with hyperinsulinism may have different blood sugar responses to certain tests (like fasting or drinking a high-protein shake) when compared to people without hyperinsulinism. This study will involve a screening visit where we will ask you about your medical history and any known episodes of low blood sugar. Depending on your responses during the interview, you will be asked to complete up to five tests at our outpatient research center. These tests include fasting, drinking a high-protein shake, drinking a high-sugar drink, eating a regular meal, and exercising on a stationary bike. We will collect blood samples from an IV throughout the tests to measure certain blood levels like glucose and insulin. You will be compensated for some or all of your travel costs and you will receive payment for your time. If you are interested in learning more, please contact us at HIResearch@chop.edu.

Phase: N/A

Actively recruiting: Yes

Category: Adults, Children, Healthy Controls

Conditions: Congenital Hyperinsulinism

MRI Study for Infants with Down Syndrome

The goal of this study is to increase our understanding of how the brain is affected in infants with and without Down Syndrome. This may in turn provide clues that could eventually help identify therapeutic targets for intervention for individuals with Down Syndrome. We are enrolling infants with Down Syndrome between the ages of birth to 12 months old, and infants with typical development between the ages of birth to 6 months old. Expectant parents are encouraged to contact us.

Participants will be asked to make 3 visits to CHOP over time to complete cognitive and behavioral testing and a non-invasive MRI.

Participants will be compensated for their time and receive a written feedback report.

Phase: N/A

Actively recruiting: Yes

Category: Children, Healthy Controls, MRI/Imaging Studies

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