Spinal Muscular Atrophy (SMA)LOREASINCT07332702
Long Read Analysis in Spinal Muscular Atrophy - LOREASI
A study testing blood sample in people with Spinal Muscular Atrophy (SMA), run by University Hospital, Rouen at 1 site in France.
Trial summary
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disease caused by deletion of the SMN1 gene, with the most severe form leading to death in children without treatment. Genetic counselling to detect couples where both partners are carriers is particularly important. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Spinal Muscular Atrophy (SMA)
- What is being tested?
- blood sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 27 participants
- Where
- 1 siteFrance
- Study dates
- 15 May 2025to 15 Jan 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Adult Subject:
- Subject with either:
- 1 or 3 copies of the SMN1 gene (control group) and a variable number of copies of the SMN2 gene
- 2 copies of the SMN1 gene in cis (2+0 genotype) (test group)
- Affiliation to French health insurance
- Signed consent form
Who cannot join
- Pregnant or breastfeeding women
- Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU Rouen
Rouen
Pascale Saugier-Veber, (+33) 2 32 88 64 51, Pascale.Saugier-Veber@chu-rouen.fr
About this study
Official title: Detection of Cis Duplications of the SMN1 Gene Using Long-read Analysis to Address a Major Issue in Genetic Counseling for Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disease caused by deletion of the SMN1 gene, with the most severe form leading to death in children without treatment. Genetic counselling to detect couples where both partners are carriers is particularly important. In some countries, preconception screening is offered. However, some carriers escape detection due to the existence of two copies of the SMN1 gene side-by-side (2+0 genotype). Currently, no molecular genetic methods used for diagnostic purposes can detect these 2+0 genotypes, which pose a significant challenge in genetic counselling.
This study aims to use new technologies based on the analysis of ultra-long molecules to detect side-by-side duplications of the SMN1 gene to detect heterozygous subjects not identified by current techniques and improve genetic counselling.
Read the detailed description
Spinal Muscular Atrophy (SMA) is a severe autosomal recessive neuromuscular disease, with the most severe form leading to death in children without treatment. Genetic counseling to detect couples where both partners are heterozygous is particularly important. In some countries, preconception screening is offered. However, some individuals' heterozygous status escape detection due to the existence of a cis duplication of the SMN1 gene on the second allele ([2+0] genotype). Currently, no molecular genetic methods used for diagnostic purposes can detect these [2+0] genotypes, which poses a significant challenge in genetic counseling.
The SMN1 gene, responsible for SMA, is located in the 5q11q13 region, which remains poorly understood in the human reference genome ("dark region"). The architecture of this inverted duplicated region favors recombination events that lead to deletions, duplications, and gene conversions. The SMN1 gene, located in the telomeric region, has a very homologous copy, the SMN2 gene, located in the centromeric region. The lack of detailed knowledge about duplication events hinders the development of molecular tools aimed at improving genetic counseling.
This study aims to use new technologies based on the analysis of ultra-long molecules to detect cis duplication of the SMN1 gene. We will assess the usefulness of optical mapping (Bionano) to analyze this complex region.
- Conditions
- Spinal Muscular Atrophy (SMA)
- Being tested
- blood sample
- Keywords
- SMA, SMN1, long read, cis duplication, genetic counselling
- Medical subject headings
- Muscular Atrophy, Spinal, Spinal Muscular Atrophy, Type IV
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sampleGenetic
For subjects who agree to participate in the study, a blood sample will be taken (2x5 mL on EDTA) and sent the same day at 4°C to the genetics laboratory at Rouen University Hospital using a carrier that guarantees delivery on D+1
| Study group | Role | What they receive |
|---|---|---|
| Control group | Experimental | subjects carrying 1 or 3 copies of the SMN1 gene and a variable number of copies of the SMN2 gene Receives: Genetic: blood sample |
| Test group | Experimental | subjects carrying a 2+0 genotype (two copies of the SMN1 gene in cis on one allele and a deletion on the other allele) Receives: Genetic: blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Ability to identify a [2+0] SMN1 genotype
Measured: From enrollment until the end of the analyses (36 months)
Secondary outcomes (1)
Ability to perform assembly of ultra-long molecules of DNA
Measured: From enrollment until the end of the analyses (36 months)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jan 2026
- Study start15 May 2025
- Primary completion15 Jan 2027 (estimated)
- Study completion15 Jan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular Atrophy (SMA)Studies 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
- Prevention
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 27 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Rouen
- Sponsor type
- University, hospital or other
- Collaborators
- Agence de La Biomédecine
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07332702
- Sponsor's protocol ID
- 2023/0154/HP
- Acronym
- LOREASI
- Status last verified
- Dec 2025
- First submitted
- 29 Dec 2025
- Last updated
- 12 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Detection of Cis Duplications of the SMN1 Gene Using Long-read Analysis to Address a Major Issue in Genetic Counseling for Spinal Muscular Atrophy
- ClinicalTrials.gov ID
- NCT07332702
- Acronym / sponsor ID
- LOREASI / 2023/0154/HP
- Conditions
- Spinal Muscular Atrophy (SMA)
- Keywords
- SMA, SMN1, long read, cis duplication, genetic counselling
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 27 participants (estimated)
- Lead sponsor
- University Hospital, RouenUniversity, hospital or other
- Collaborators
- Agence de La Biomédecine
- Study start
- 15 May 2025 (actual)
- Primary completion
- 15 Jan 2027 (estimated)
- Study completion
- 15 Jan 2027 (estimated)
- First posted
- 12 Jan 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.
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disease caused by deletion of the SMN1 gene, with the most severe form leading to death in children without treatment. Genetic counselling to detect couples where both partners are carriers is particularly important. In some countries, preconception screening is offered. However, some carriers escape detection due to the existence of two copies of the SMN1 gene side-by-side (2+0 genotype). Currently, no molecular genetic methods used for diagnostic purposes can detect these 2+0 genotypes, which pose a significant challenge in genetic counselling.
This study aims to use new technologies based on the analysis of ultra-long molecules to detect side-by-side duplications of the SMN1 gene to detect heterozygous subjects not identified by current techniques and improve genetic counselling.
Detailed description
Spinal Muscular Atrophy (SMA) is a severe autosomal recessive neuromuscular disease, with the most severe form leading to death in children without treatment. Genetic counseling to detect couples where both partners are heterozygous is particularly important. In some countries, preconception screening is offered. However, some individuals' heterozygous status escape detection due to the existence of a cis duplication of the SMN1 gene on the second allele ([2+0] genotype). Currently, no molecular genetic methods used for diagnostic purposes can detect these [2+0] genotypes, which poses a significant challenge in genetic counseling.
The SMN1 gene, responsible for SMA, is located in the 5q11q13 region, which remains poorly understood in the human reference genome ("dark region"). The architecture of this inverted duplicated region favors recombination events that lead to deletions, duplications, and gene conversions. The SMN1 gene, located in the telomeric region, has a very homologous copy, the SMN2 gene, located in the centromeric region. The lack of detailed knowledge about duplication events hinders the development of molecular tools aimed at improving genetic counseling.
This study aims to use new technologies based on the analysis of ultra-long molecules to detect cis duplication of the SMN1 gene. We will assess the usefulness of optical mapping (Bionano) to analyze this complex region.
Study design
- Primary purpose
- Prevention
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Control group | Experimental | Genetic: blood samplesubjects carrying 1 or 3 copies of the SMN1 gene and a variable number of copies of the SMN2 gene |
| Test group | Experimental | Genetic: blood samplesubjects carrying a 2+0 genotype (two copies of the SMN1 gene in cis on one allele and a deletion on the other allele) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- Adult Subject:
- Subject with either:
- Affiliation to French health insurance
- Signed consent form
Key exclusion criteria (2 listed)
- Pregnant or breastfeeding women
- Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship
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 |
|---|---|---|
| blood sampleFor subjects who agree to participate in the study, a blood sample will be taken (2x5 mL on EDTA) and sent the same day at 4°C to the genetics laboratory at Rouen University Hospital using a carrier that guarantees delivery on D+1 | Genetic | Control group, Test group |
Primary outcome
Ability to identify a [2+0] SMN1 genotype
Time frame: From enrollment until the end of the analyses (36 months)
1 secondary outcome
Ability to perform assembly of ultra-long molecules of DNA
Time frame: From enrollment until the end of the analyses (36 months)
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 12 Jan 2026.
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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 blood sample in people with Spinal Muscular Atrophy (SMA), run by University Hospital, Rouen 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 6 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 12 Jan 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 Pascale Saugier-Veber, PharmD PhD ((+33) 2 32 88 64 51, Pascale.Saugier-Veber@chu-rouen.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Ability to identify a [2+0] SMN1 genotype (time frame: From enrollment until the end of the analyses (36 months)). 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 12 Jan 2026; AzTrials last refreshed its copy on 26 Oct 2026.