Genetic Testing Research in Metabolic Bone Diseases
M
Michael Econs, MD
Primary Investigator
Enrolling By Invitation
100 years or below
All
Phase
N/A
1 Location
Brief description of study
What is the purpose of this study?
The purpose of this study is to gain a better understanding of metabolic bone diseases through DNA analysis.
THIS STUDY IS ENROLLING BY INVITATION ONLY - Most of the subjects in this protocol are the PI’s patients, their family members, or the patients and family members of other physicians who have contacted the PI. Subjects included in this study will range in age from infancy through adulthood.
Detailed description of study
What will happen during the study?
- Evidence suggests that genetic factors play a significant role in metabolic bone diseases. Therefore, it is important that the DNA of the individuals with diseases in which inherited factors may play a role be available for research.
- This study will obtain DNA from volunteers. The DNA will be extracted and analyzed (sequencing of genes that have become known to cause disease).
- The remainder of the sample will be stored for and future DNA and biochemical testing that will help us understand the disease a little better.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: Metabolic bone disease, Healthy
-
Age: 100 years or below
-
Gender: All
Inclusion Criteria:
- The subjects will be male and females with possible metabolic bone disease and healthy controls for comparison.
Updated on
06 Mar 2025.
Study ID: ENDO-IIR-GENETIC-TESTING, 1010002609
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