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DTX401 Gene Therapy in Glycogen Storage Disease (GSD) Type Ia
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)
Related PI: Diva D. De León-Crutchlow, MD, MSCE
Related Conditions: AAV Vectors, Hyperinsulinism, Adeno-associated Viral Vectors, Viral Vectors, Hypoglycemia, Clinical Trials, Rare Disorder Natural History Studies and Clinical Trials, Endocrinology Disorders, Gene Therapy Research, Gene Transfer Therapy, Rare Disease, Diabetes and other Metabolic Diseases, Pediatric Endocrinology, Rare Genetic Disorders, Pediatric Genetic Disease, Genetic Disease, Genetic Mutations, Gene Therapy, Genetic Disorders, Metabolic Disease, Metabolic Disorders
Phenotypes of Congenital Hyperinsulinism
We are doing this study to see if the patterns of abnormalities in controlling insulin in children and adults with hyperinsulinism are related to any underlying genetic cause and to identify possible new genetic causes.
The Myelin Disorders Biorepository Project (MDBP)
This study involves the collection of medical information and samples from people with a confirmed or suspected leukodystrophy or related disorder affecting the white matter of the brain, as well as "healthy controls" who are not known to be affected by one of these disorders.
Related PI: Adeline L. Vanderver, MD
Related Conditions: Leukodystrophies, Leukodystrophy, Biorepository, Pediatric Neurology, Neurological and Neuromuscular , Genetic Disease, Genetic Disorders, Rare Genetic Disorders, Pediatric Genetic Disease, Aicardi Goutieres Syndrome, TUBB4A, Metachromatic Leukodystrophy, Adrenoleukodystrophy, Leukoencephalopathies, Leukoencephalopathy, Biobank, Biobanking, H-ABC, Alexander Disease, Krabbe Disease, Whole Genome Sequencing, Exome Sequencing, Whole Exome Sequencing, Next Generation DNA/RNA Sequencing, Next-generation Sequencing, Rare Disorder Natural History Studies, Rare Disease
UX053 in GSD III
Our team at the Congenital Hyperinsulinism Center at CHOP is working on a clinical drug trial that involves giving you a study drug called UX033.
Related PI: Diva D. De León-Crutchlow, MD, MSCE
Related Conditions: Metabolic Disease, Metabolic Disorders, Endocrinology Disorders, Hyperinsulinism, Hypoglycemia, Clinical Research, Clinical Trials, Rare Disorder Natural History Studies and Clinical Trials, Rare Genetic Disorders, Diabetes and other Metabolic Diseases, Rare Disease, Genetic Disease, Genetic Disorders