Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Launched by ALBERT EINSTEIN COLLEGE OF MEDICINE · Nov 8, 2007
Trial Information
Current as of May 14, 2025
Recruiting
Keywords
ClinConnect Summary
This clinical trial is focused on understanding how genetic differences can influence the severity of 22q11.2 deletion syndrome, also known as DiGeorge Syndrome. This is a genetic condition that can lead to issues such as heart problems, unique facial features, and challenges in learning and development. The researchers are looking at DNA samples from individuals with this syndrome to identify specific genetic factors that may make the condition more or less severe for different people.
If you or a loved one has been diagnosed with a 22q11 deletion of at least 3 megabases (Mb), you might be eligible to participate in this study. Unfortunately, those with a smaller deletion or no deletion will not be included. Participants in this trial will help researchers gather important information that could lead to better understanding and treatment options for 22q11.2 deletion syndrome. The trial is currently recruiting, and individuals of all ages and genders are welcome to join. Your involvement could play a crucial role in advancing medical knowledge about this condition.
Gender
ALL
Eligibility criteria
- Inclusion Criteria:
- • Has 22q11 deletion of 3 megabases (Mb)
- Exclusion Criteria:
- • Has 22q11 deletion smaller than 3 Mb or no deletion
About Albert Einstein College Of Medicine
Albert Einstein College of Medicine is a leading academic institution dedicated to advancing biomedical research and medical education. Situated in the Bronx, New York, it is renowned for its commitment to innovative research and training the next generation of physicians and scientists. The college actively engages in a wide range of clinical trials, focusing on translating scientific discoveries into effective therapies and improving patient care. With a collaborative approach that involves multidisciplinary teams, Albert Einstein College of Medicine aims to address significant health challenges and contribute to the global medical community through rigorous research and evidence-based practices.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Philadelphia, Pennsylvania, United States
New York, New York, United States
Patients applied
Trial Officials
Bernice E. Morrow, PhD
Principal Investigator
Albert Einstein College of Medicine
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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