Acid Base DisorderNCT07005700
Rapid Diagnostics for Genetic Disorders in Neonates
A study testing Targeted genomic sequencing in people with Acid Base Disorder, run by Sharp HealthCare at 1 site in United States.
Trial summary
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?… Read more about this study
- Who is it for?
- Ages 1 day to 6 months
- Conditions the study is for
- Acid Base Disorder
- What is being tested?
- Targeted genomic sequencing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Jun 2025to May 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 6 months
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Abnormality in routine neonatal screening test.
- Unexplained neonatal hypotonia or neonate-onset seizures.
- Unexplained and abnormal biochemical laboratory findings.
- Skeletal dysplasia or joint problems.
Who cannot join
- Parental refusal of consent to participate.
- Provider refusal.
- Any condition that, in the opinion of the investigator, would interfere with interpretation of study results.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
Sharp Mary Birch Hospital for Women and Newborns
San Diego, California, 92123
Jason B Sauberan, PharmD, 858-939-7424, jason.sauberan@sharp.com
About this study
Official title: Development of Rapid Diagnostics for Genetic Disorders in Neonates Using a Novel Targeted Genomic DNA Sequencing Analysis Panel.
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.
- Conditions
- Acid Base Disorder
- Being tested
- Targeted genomic sequencing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Targeted genomic sequencingDiagnostic test
Single 0.5 mL venous or capillary blood sample.
| Study group | Role | What they receive |
|---|---|---|
| Consented, Enrolled | Experimental | All participants who meet inclusion and exclusion criteria and whose parent has provided written informed consent. Receives: Diagnostic Test: Targeted genomic sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: birth through hospital discharge or up to 1 month of age
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jun 2025
- Study start30 Jun 2025 (estimated)
- Primary completionDec 2026 (estimated)
- Study completionMay 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Acid Base DisorderStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Health services research
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Sharp HealthCare
- Sponsor type
- University, hospital or other
- Collaborators
- MedySapiens
- Responsible party
- Principal investigator, Anup Katheria, M.D., Sharp HealthCare
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07005700
- Sponsor's protocol ID
- MedySeq
- Status last verified
- May 2025
- First submitted
- 9 Apr 2025
- Last updated
- 5 Jun 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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.
PubMed 36544340
Study at a glance
From the registry record, last updated by the sponsor on 5 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of Rapid Diagnostics for Genetic Disorders in Neonates Using a Novel Targeted Genomic DNA Sequencing Analysis Panel.
- ClinicalTrials.gov ID
- NCT07005700
- Acronym / sponsor ID
- MedySeq
- Conditions
- Acid Base Disorder
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Sharp HealthCareUniversity, hospital or other
- Collaborators
- MedySapiens
- Study start
- 30 Jun 2025 (estimated)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- May 2027 (estimated)
- First posted
- 5 Jun 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Health services research
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Consented, Enrolled | Experimental | Diagnostic Test: Targeted genomic sequencingAll participants who meet inclusion and exclusion criteria and whose parent has provided written informed consent. |
Who may qualify
- Ages
- 1 day to 6 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- Abnormality in routine neonatal screening test.
- Unexplained neonatal hypotonia or neonate-onset seizures.
- Unexplained and abnormal biochemical laboratory findings.
- Skeletal dysplasia or joint problems.
Key exclusion criteria (3 listed)
- Parental refusal of consent to participate.
- Provider refusal.
- Any condition that, in the opinion of the investigator, would interfere with interpretation of study results.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Targeted genomic sequencingSingle 0.5 mL venous or capillary blood sample. | Diagnostic test | Consented, Enrolled |
Primary outcome
Identification of genes associated with congenital diseases
Time frame: birth through hospital discharge or up to 1 month of age
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Jun 2025.
- Background: PubMed 36544340Kim 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.
- Gene sequencing panel and bioinformatics software being used in the study.Link provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Targeted genomic sequencing in people with Acid Base Disorder, run by Sharp HealthCare at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 5 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Anup Katheria, MD (858-939-4170, Anup.Katheria@sharp.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of genes associated with congenital diseases (time frame: birth through hospital discharge or up to 1 month of age). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07005700, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Jun 2025.