Investigations for Congenital Disorders of Glycosylation
What You Need to Know Before You Apply
What is the purpose of this trial?
This trial aims to understand congenital disorders of glycosylation (CDG), rare genetic conditions that affect the body's ability to process certain sugars. Researchers seek to learn about the natural progression and causes of these disorders and explore potential treatments. The trial seeks participants with a confirmed diagnosis of CDG or NGLY1 deficiency, identified through genetic or molecular testing. This information could help develop better management or treatment methods for these conditions in the future. As an unphased trial, this study offers participants the chance to contribute to foundational research that could significantly advance the understanding and treatment of CDG.
Why are researchers excited about this trial?
Researchers are excited about exploring new treatments for Congenital Disorders of Glycosylation (CDG) because these treatments aim to address the root cause of the disease, rather than just managing symptoms. Unlike current options, which primarily focus on symptom relief, these investigational treatments target specific genetic and biochemical pathways involved in glycosylation. This innovative approach could potentially correct the underlying defects at a molecular level, offering hope for more effective and long-term solutions for individuals with CDG.
Who Is on the Research Team?
Eva Morava-Kozicz, MD, PhD
Principal Investigator
Icahn School of Medicine at Mount Sinai
Are You a Good Fit for This Trial?
Inclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Natural History Study
Participants complete questionnaires, dietary records, physical exams, and provide samples for biomarker testing
Follow-up
Participants are monitored for disease progression and severity using the Nijmegen Progression CDG rating scale
What Are the Treatments Tested in This Trial?
Find a Clinic Near You
Who Is Running the Clinical Trial?
Icahn School of Medicine at Mount Sinai
Lead Sponsor
Boston Children's Hospital
Collaborator
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
University of Pittsburgh
Collaborator
Baylor College of Medicine
Collaborator
Mayo Clinic
Collaborator
University of Minnesota
Collaborator
Children's Hospital Colorado
Collaborator
Seattle Children's Hospital
Collaborator
University of Alabama at Birmingham
Collaborator