Rapid Diagnostics for Genetic Disorders in Neonates
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Targeted genomic sequencing.
- Who it may be relevant to
- Registry conditions: Acid Base Disorder. Basic parameters: 1 Day — 6 months · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Development of Rapid Diagnostics for Genetic Disorders in Neonates Using a Novel Targeted Genomic DNA Sequencing Analysis Panel.
Overview
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.
Interventions
- Diagnostic test Targeted genomic sequencing
Single 0.5 mL venous or capillary blood sample.
Primary outcome measures
- Identification of genes associated with congenital diseases [Time frame: birth through hospital discharge or up to 1 month of age]
Eligibility criteria
Inclusion Criteria: neonates of any gestational age.
- Abnormality in routine neonatal screening test.
- Unexplained neonatal hypotonia or neonate-onset seizures.
- Unexplained and abnormal biochemical laboratory findings.
- Skeletal dysplasia or joint problems.
Exclusion criteria
- Parental refusal of consent to participate.
- Provider refusal.
- Any condition that, in the opinion of the investigator, would interfere with interpretation of study results.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Health services research
Study locations
United States · 1 center
- Sharp Mary Birch Hospital for Women and Newborns — San Diego
Publications
- 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. PMID 36544340
Identifiers
NCT: NCT07005700 · MedySeq