Gene Therapy for Inherited Metabolic Disorders Program
The Gene Therapy for Inherited Metabolic Disorders (GTIMD) Program at Children’s Hospital of Philadelphia (CHOP) was created by a trailblazing group of researchers and clinicians dedicated to treating inborn errors of metabolism. Inborn errors of metabolism, or “IEMs” refer to a group of disorders (or diseases) that affect metabolic pathways in the body.
Metabolic pathways are like intricate roadmaps guiding the flow of energy and raw materials through your body, ensuring that you have the energy to move, think, grow and repair. They're the behind-the-scenes processes that keep the machinery of your body running smoothly. There are more than 1,000 IEMs and each affects the body differently.
There are currently no cures for IEMs – only therapies to help manage them.
How we serve you
We know that an IEM diagnosis can be stressful – for both you and your child. Our team is uniquely positioned to help you through it all. We can evaluate your child, provide a second opinion and walk you through the gene therapy options available today, including clinical trials.
Conditions we treat
Inborn errors of metabolism (IEMs) are devastating, rare genetic disorders that affect organs – and how they work together – within a child’s body. Typically, IEMs affect multiple organs and can be life-threatening.
- Inborn errors of metabolism
- Phenylketonuria (PKU)
- Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
- Multiple sulfatase deficiency (MSD)
- Amino acid disorders
- Organic acidemia class of IEMs
- Fatty acid oxidation defects
- Urea cycle disorder
- Lysosomal storage disorders
Why choose us for IEMs
Metabolic physicians and subspecialists at CHOP are among the world’s most well-respected leaders on inborn errors of metabolism (IEMs). Our physicians are leading more than 10 observational and interventional trials on IEMs.
Meet your team
Our team is made up of world-renowned and widely respected experts in metabolic diseases. They are dedicated to finding treatments for every child with an inborn error of metabolism.
Our research
Our researchers are studying how we can better treat – or even cure – diseases by targeting specific genes. CHOP is a leader in developing and administering two types of gene therapy.
Referring a patient
For doctors seeking a second opinion or who want to refer a patient to the Gene Therapy for Inherited Metabolic Disorders (GTIMD) Program, we offer a dedicated clinical coordinator to help you – and your patients – connect with CHOP. Our GTIMD coordinator helps us collaborate with you, partner with local care teams, and support patients with scheduling, visits, and testing at CHOP. The coordinator provides referring physicians with a direct line of communication, ensuring a smooth transition of care.
For more information about scheduling an appointment for one of your patients, call 267-425-4363 or email GTIMD@chop.edu.
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