Pediatric Genetic Disorders Research
The clinical research team in the Division of Genetics works on a variety of research studies. These include natural history studies which document the course of disorders before treatment and during treatment. We are also involved in Phase I (first in human) through Phase IV (post-FDA approval) clinical trials. The focus of these trials is to develop new therapies and improve existing therapies. Genetic disorders that are studied include:
- Phenylketonuria (PKU), and other amino acid disorders
- Neurofibromatosis
- Fatty acid oxidation disorders
- Urea cycle disorders
- Achondroplasia
- Lysosomal storage disorders
- Mucopolysaccharidoses (MPS)
- Metachromatic leukodystrophy (MLD)
- Pompe disease
- Fabry disease
- Gaucher disease.
Questions or inquiries for any of the clinical research trials can be directed to Rachel Katz, Clinical Research Manager, at RKatz@luriechildrens.org.
Recent Genetic Disorder Research
- First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B
- MYH10 new neurodevelopmental disorder
- Utility and Outcomes of the 2019 ACMGG-Clinical Genome Resource Guidelines
- Revisiting the administration of biotin to children with biotin
- Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis
- Efficacy and safety of empagliflozin in glycogen storage disease type Ib
- Ocular findings in pediatric turner syndrome
- Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II
- A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
- Craniosynostosis is a feature of Costello syndrome
- Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Final results of the ARISE study
- A case of blepharophimosis: Freeman Sheldon syndrome
- A rapid LC-MS/MS assay for detection and monitoring of underivatized branched
- Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase
- Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience
- Long-Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal
- Stx4 is required to regulate cardiomyocyte Ca 2+ handling during vertebrate cardiac development
- The diagnosis and management of Gaucher disease in pediatric patients