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| Name | Class |
|---|---|
| MedySapiens | UNKNOWN |
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The goal of this study is to test a prototype genomic blood analysis for identifying rare diseases in infants hospitalized in the neonatal intensive care unit (NICU).
The main question it aims to answer is: Does the prototype accurately identify genetic variation(s) associated with an infant's health condition?
Researchers will compare the prototype's gene identification to traditional genome sequencing methods of gene identification.
Participants will be asked to provide a very small (one-tenth of a teaspoon) sample of blood, one-time.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Consented, Enrolled | Experimental | All participants who meet inclusion and exclusion criteria and whose parent has provided written informed consent. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Targeted genomic sequencing | Diagnostic Test | Single 0.5 mL venous or capillary blood sample. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Identification of genes associated with congenital diseases | A finding that a participant has one of the genes among the 254 included in the targeted gene panel being used. These genes are associated with metabolic, lysosomal storage, immunodeficiency, hemoglobinopathy, and channelopathy diseases, sensorineural hearing loss, and other conditions typically exposed through newborn screening. | birth through hospital discharge or up to 1 month of age |
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Inclusion Criteria: neonates of any gestational age.
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Anup Katheria, MD | Contact | 858-939-4170 | Anup.Katheria@sharp.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Sharp Mary Birch Hospital for Women and Newborns | San Diego | California | 92123 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 36544340 | Background | Kim MJ, Kim SY, Lee JS, Kang S, Park LJ, Choi W, Jung JY, Kim T, Park SS, Ko JM, Seong MW, Chae JH. Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. Ann Lab Med. 2023 May 1;43(3):280-289. doi: 10.3343/alm.2023.43.3.280. Epub 2022 Dec 22. |
| Label | URL |
|---|---|
| Gene sequencing panel and bioinformatics software being used in the study. | View source |
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