Severe Combined Immunodeficiencies (SCID)DépisTrecNCT07704281
Follow-up of the Cohort of Newborns Screened at Birth Using TREC Analysis
An observational study of Severe Combined Immunodeficiencies (SCID), run by Nantes University Hospital at 1 site in France.
Trial summary
Since September 2025, neonatal screening for severe combined immunodeficiency (SCID) has been generalized in France. These genetic disorders, which are asymptomatic at birth, cause severe immunodeficiency, exposing infants to serious infections (viral, bacterial, or fungal) as early as the first year of life. Read more about this study
- Who is it for?
- Ages Up to 5 years
- Conditions the study is for
- Severe Combined Immunodeficiencies (SCID)
- What is being tested?
- Data collection
- How many people
- 450 participants
- Where
- 1 siteFrance
- Study dates
- 1 Nov 2026to 31 Aug 2035
- Phase
- Observational
- 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 Up to 5 years
- All sexes
- No healthy volunteers
- Child
Study population: The target population consists of all children screened for SCID in France, that is, all children born in metropolitan France and the overseas territories whose parents consent to neonatal screening of their child using the Guthrie test. Within this population, our cohort will include all children with a positive Guthrie card screening result confirmed by lymphocyte immunophenotyping performed during the first visit with a pediatric specialist. This will include the first baby screened on or after September 1, 2025 (the start date of neonatal screening for DICS in France) and will cover a 5-year period.
Who may be able to join
- Children with a positive Guthrie test result, confirmed by lymphocyte immunophenotyping performed during their first visit with a pediatric specialist.
Who cannot join
- Children whose parents objected to the collection of data after receiving the informational letter
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Caroline THOMAS contact
Marie RIMBERT contact
France1 site
Nantes university hospital
Nantes, 44093
Caroline THOMAS, 0253482835 ext. +33, caroline.thomas@chu-nantes.fr
Marie RIMBERT, 0253482835 ext. +33, marie.rimbert@chu-nantes.fr
About this study
Official title: Follow-up of the Cohort of Infants Screened at Birth Using TREC Analysis : DépisTrec - SUIVI
Since September 2025, neonatal screening for severe combined immunodeficiency (SCID) has been generalized in France. These genetic disorders, which are asymptomatic at birth, cause severe immunodeficiency, exposing infants to serious infections (viral, bacterial, or fungal) as early as the first year of life. Without early treatment and management, infectious complications can be life-threatening.
Studies show that this screening improves survival and quality of life and reduces treatment costs by enabling intervention before complications arise.
Read more
In France, the Ministry of Health referred this matter to the Haute Autorité de Santé (HAS), which issued a favorable opinion in January 2022 via a ministerial decree (published on April 16, 2025) regarding the combined screening for DICS and spinal muscular atrophy. These authorizations follow the DEPISTREC study (2015-2017), which demonstrated the effectiveness of this screening: 190,517 children were screened, resulting in a reduction in DICS-related deaths.
The primary objective of the study will be to describe the underlying causes of T-cell lymphopenia identified in newborns through neonatal screening by quantifying TRECs on Guthrie cards. (SCID; variant SCID; syndromic T-cell deficiency; secondary T-cell deficiency; attenuated SCID; Omenn syndrome; immunosuppressive treatment in the mother; not found; isolated prematurity).
- Being tested
- Data collection
- Keywords
- Severe combined immunodeficiencies (SCID), neonatal screening, T-cell lymphopenia, Guthrie test
- Medical subject headings
- Severe Combined Immunodeficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Data collectionOther
The categories of data processed in the study database will be:
- Clinical data
- Laboratory data
- Data related to newborn screening
- Genetic data (only the results of genetic testing)
- Care-related data (referral center, dates of tests, etc.)
| Study group | Role | What they receive |
|---|---|---|
| SCID Children | Our cohort will include all children with a positive Guthrie test result, confirmed by lymphocyte immunophenotyping performed during their first visit with a pediatric specialist. This will include the first baby screened on or after September 1, 2025 (the start date of neonatal screening for DICS in France) and will cover a 5-year period. Receives: Other: Data collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Etiology of T-cell lymphopenia identified through newborn screening using TREC quantification on Guthrie cards
Measured: Enrollment
Secondary outcomes (3)
Prevalence of SCID and severe T-cell lymphopenia in the screened population
Measured: Enrollment
Description of the clinical management of newborns diagnosed with T-cell lymphopenia, whether SCID or non-SCID
Measured: Enrollment
Describe the time frame for reporting test results
Measured: Enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jul 2026
- Study start1 Nov 2026 (estimated)
- Primary completion31 Aug 2035 (estimated)
- Study completion31 Aug 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Severe Combined Immunodeficiencies (SCID)Studies of the same condition, open and under way.
- More trials run by Nantes University HospitalThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 450 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nantes University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07704281
- Sponsor's protocol ID
- RC26_0010
- Acronym
- DépisTrec
- Status last verified
- Jul 2026
- First submitted
- 9 Jul 2026
- Last updated
- 15 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 15 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Follow-up of the Cohort of Infants Screened at Birth Using TREC Analysis : DépisTrec - SUIVI
- ClinicalTrials.gov ID
- NCT07704281
- Acronym / sponsor ID
- DépisTrec / RC26_0010
- Keywords
- Severe combined immunodeficiencies (SCID), neonatal screening, T-cell lymphopenia, Guthrie test
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 450 participants (estimated)
- Lead sponsor
- Nantes University HospitalUniversity, hospital or other
- Study start
- 1 Nov 2026 (estimated)
- Primary completion
- 31 Aug 2035 (estimated)
- Study completion
- 31 Aug 2035 (estimated)
- First posted
- 15 Jul 2026 (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.
Since September 2025, neonatal screening for severe combined immunodeficiency (SCID) has been generalized in France. These genetic disorders, which are asymptomatic at birth, cause severe immunodeficiency, exposing infants to serious infections (viral, bacterial, or fungal) as early as the first year of life. Without early treatment and management, infectious complications can be life-threatening.
Studies show that this screening improves survival and quality of life and reduces treatment costs by enabling intervention before complications arise.
In France, the Ministry of Health referred this matter to the Haute Autorité de Santé (HAS), which issued a favorable opinion in January 2022 via a ministerial decree (published on April 16, 2025) regarding the combined screening for DICS and spinal muscular atrophy. These authorizations follow the DEPISTREC study (2015-2017), which demonstrated the effectiveness of this screening: 190,517 children were screened, resulting in a reduction in DICS-related deaths.
The primary objective of the study will be to describe the underlying causes of T-cell lymphopenia identified in newborns through neonatal screening by quantifying TRECs on Guthrie cards. (SCID; variant SCID; syndromic T-cell deficiency; secondary T-cell deficiency; attenuated SCID; Omenn syndrome; immunosuppressive treatment in the mother; not found; isolated prematurity).
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| SCID Children | – | Other: Data collectionOur cohort will include all children with a positive Guthrie test result, confirmed by lymphocyte immunophenotyping performed during their first visit with a pediatric specialist. This will include the first baby screened on or after September 1, 2025 (the start date of neonatal screening for DICS in France) and will cover a 5-year period. |
Who may qualify
- Ages
- Up to 5 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- The target population consists of all children screened for SCID in France, that is, all children born in metropolitan France and the overseas territories whose parents consent to neonatal screening of their child using the Guthrie test. Within this population, our cohort will include all children with a positive Guthrie card screening result confirmed by lymphocyte immunophenotyping performed during the first visit with a pediatric specialist. This will include the first baby screened on or after September 1, 2025 (the start date of neonatal screening for DICS in France) and will cover a 5-year period.
Key inclusion criteria (1 listed)
- Children with a positive Guthrie test result, confirmed by lymphocyte immunophenotyping performed during their first visit with a pediatric specialist.
Key exclusion criteria (1 listed)
- Children whose parents objected to the collection of data after receiving the informational letter
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 |
|---|---|---|
| Data collectionThe categories of data processed in the study database will be: * Clinical data * Laboratory data * Data related to newborn screening * Genetic data (only the results of genetic testing) * Care-related data (referral center, dates of tests, etc.) | Other | SCID Children |
Primary outcome
Etiology of T-cell lymphopenia identified through newborn screening using TREC quantification on Guthrie cards
Time frame: Enrollment
3 secondary outcomes
Prevalence of SCID and severe T-cell lymphopenia in the screened population
Time frame: Enrollment
Description of the clinical management of newborns diagnosed with T-cell lymphopenia, whether SCID or non-SCID
Time frame: Enrollment
Describe the time frame for reporting test results
Time frame: Enrollment
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 15 Jul 2026.
- Individual participant dataSharing planned: Undecided
Related trials for Severe Combined Immunodeficiencies (SCID)
RecruitingObservational study
Genetic Basis of Immunodeficiency
Severe Combined Immunodeficiency
RecruitingPhase 1/2
Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)
X-linked Severe Combined Immunodeficiency (XSCID)
Not yet recruitingPhase 1/2
SCID-X1 Gene Therapy Via Intravenous Lentiviral (Ivlv-X1) Injection
SCID, X-Linked
Not yet recruiting
Gene Therapy for ADA-SCID Using an Improved Lentiviral Vector (Ivlv-ADA)
Adenosine DeAminase Severe Combined ImmunoDeficiency (ADA-SCID)
Enrolling by invitationObservational study
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Primary Immunodeficiency, DOCK8
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.
Caroline THOMAS contact
Marie RIMBERT contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Severe Combined Immunodeficiencies (SCID), run by Nantes University Hospital at 1 site in France.
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 1 inclusion and 1 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 15 Jul 2026. 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 France. 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 Caroline THOMAS (marie.rimbert@chu-nantes.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Etiology of T-cell lymphopenia identified through newborn screening using TREC quantification on Guthrie cards (time frame: Enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 15 Jul 2026.