Feasibility of Neonatal Screening for Spinal AmyotrophyDEPISMANCT05645250
Feasibility of a Newborn Screening for Spinal Muscular Atrophy (SMA) in France: DEPISMA Prefigurator Project in Grand-Est and Nouvelle-Aquitaine
An observational study of Feasibility of Neonatal Screening for Spinal Amyotrophy, run by University Hospital, Strasbourg, France at 39 sites in France.
Trial summary
Spinal muscular atrophy (SMA) is a genetic disease of the nervous system that affects about 1 in 7,0001.2 births and results in very high mortality for patients with the disease. There are about 120 new cases in France each year and an estimated total of 2500 patients. Read more about this study
- Who is it for?
- Ages 1 day to 5 days
- Conditions the study is for
- Feasibility of Neonatal Screening for Spinal Amyotrophy
- How many people
- 220,000 participants
- Where
- 39 sitesFrance
- Study dates
- 13 Dec 2022to 12 Dec 2024
- How long will I take part?
- 2 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
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 5 days
- All sexes
- Child
Study population: Participation in the study will be offered to the parents of all newborns meeting the inclusion criteria, along with the standard national newborn screening program
Who may be able to join
- - Newborns born in the Grand-Est or Nouvelle Aquitaine regions during the study period
- Parent(s) or legal guardian(s) who do not object to "conventional" newborn screening
- Parent(s) or legal guardian(s) who give consent for newborn screening for SMA
- Child with health coverage
Who cannot join
- Parent(s) under curators or guardianship
Trial locations and contacts
39 sites in 1 country.
39 sites in 1 country
France39 sites, 39 recruiting
- Recruiting
POLYCLINIQUE BEZANNES/Courlancy
Bezannes, Champagne Ardennes
Benoît EMERIQUE
- Recruiting
Ch de Briey- Hôpital Maillot
Briey
Blandine POIREL
- Recruiting
Ch de Chalons En Champagne
Châlons-en-Champagne, Champagne Ardennes
Corentine SOUMIREU LARTIGUES
- Recruiting
CHIna HOPITAL MANCHESTER
Charleville-Mézières, Champagne Ardennes, 08000
Elsa SEYS
- Recruiting
Ch de Chaumont
Chaumont, Champagne Ardennes
Carmell TETE
- Recruiting
Ch de Colmar - Hôpital Louis Pasteur
Colmar, Alsace
Didier CHOGNOT
- Not yet recruiting
Hôpital Albert Schweitzer - Clinique Du Diaconat de Colmar
Colmar, Alsace
Marc EDRISS
- Recruiting
Ch Epernay
Épernay, Champagne Ardennes, 51200
Carine DEMYTRI
- Recruiting
Ch Emile Durckheim
Épinal, Lorraine, 88000
Aude MICHEL
- Recruiting
Ch Marie Madeleine
Forbach, Lorraine
Riad HATAHET
- Recruiting
Ch de Haguenau
Haguenau, Alsace
Mathilde SIDLOVSKI
- Recruiting
Ch de Luneville
Lunéville, Lorraine
Lucille SABA
- Recruiting
Clinique Claude Bernard
Metz, Lorraine
Anne TAYON
- Not yet recruiting
Ch de Mont St Martin
Mont-Saint-Martin, Lorraine
Ruffin BONGO BOINA
- Not yet recruiting
Clinique Diaconat Fonderie de Mulhouse
Mulhouse, Alsace
Patricia WATRELOS
- Recruiting
Hôpital Emile Muller
Mulhouse, Alsace
Céline HOMATTER
- Recruiting
Chru Nancy-Maternite
Nancy, Lorraine
Laurélia JOURDAN
- Recruiting
Polyclinique Majorelle de Nancy
Nancy, Lorraine
Amélie BITTNER
- Recruiting
Chic L'Ouest Vosgien Site Neufchateau
Neufchâteau, Lorraine
Raluca NEMES
- Recruiting
Chu Reims Höpital Maison Blanche
Reims, Champagne Ardennes
- Recruiting
Ch de Remiremont
Remiremont, Lorraine
Maxime SCHVARTZ
- Recruiting
Groupement Hospitalier Aube Marne
Romilly-sur-Seine, Champagne Ardennes, 10100
Christelle BANRY
- Recruiting
Clinique St Nabor
Saint-Avold, Lorraine
Sylvie Lalouette
- Recruiting
Ch St Charles
Saint-Dié, Lorraine
Christine BRAGA
- Recruiting
Ch Genevieve Anthonioz de Gaulle
Saint-Dizier, Champagne Ardennes
Céline ROUYER
- Not yet recruiting
Ch de Verdun St Mihiel Hôpitalst Nicolas
Saint-Mihiel, Lorraine
- Recruiting
Ch Saint Nicolas
Sarrebourg, Lorraine
Boualem SIOUALA
- Recruiting
Ch de Sarreguemines Hôpital Robert Pax
Sarreguemines, Lorraine
Audrey ECKMANN
- Recruiting
Ch Ste Catherine
Saverne, Alsace
Heidi FORLER
- Recruiting
Cmco Chru de Strasbourg
Schiltigheim, Alsace
Imad LABBASSI
- Recruiting
Ch de Selestat
Sélestat, Alsace
Izzat MIKAIL
- Recruiting
Clinique Rhena
Strasbourg, Alsace
Catherine SCHARF
- Recruiting
Clinique Ste Anne
Strasbourg, Alsace
Jean-François DELOBBE
- Recruiting
Vincent LAUGEL
Strasbourg, 67100
Vincent LAUGEL, +33388127743, vincent.laugel@chru-strasbourg.fr
- Recruiting
Chr Metz Thionville Hôpital de Mercy
Thionville, Lorraine
Claire BILBAULT
- Recruiting
Hôpital Bel Air - Chr Metz -Thionville
Thionville, Lorraine
Prisca MARTINI
- Recruiting
Ch St Charles
Toul, Lorraine
Nicole JULIEN
- Recruiting
Ch Troyes
Troyes, Champagne Ardennes, 10000
Anne BEVIER
- Recruiting
Chic de La Lauter
Wissembourg, Alsace
Régine RAMBOS
About this study
Official title: Feasibility of a Newborn Screening for Spinal Muscular Atrophy (SMA) in France: DEPISMA Prefigurator Project in Grand Est and Nouvelle Aquitaine
Spinal muscular atrophy (SMA) is a genetic disease of the nervous system that affects about 1 in 7,0001.2 births and results in very high mortality for patients with the disease. There are about 120 new cases in France each year and an estimated total of 2500 patients. It is the leading cause of genetic mortality in children in France. Until 2017, no etiological treatment was available. Currently, three treatments have been approved and have authorizations in France. The current clinical developments in SMA show the importance of an early treatment for patients. 3. The identification of pre-symptomatic patients is therefore essential to improve the effectiveness of treatments on an individual level and to avoid any loss of chance, as well as to reduce the societal cost of disability for patients treated in post-symptomatic. Several countries in Europe and around the world have implemented regional pilot screening programs for the disease. The screening test is based on a molecular genetic analysis that has been performed for many years, and which is highly reliable; there is currently no biochemical marker that can be used.
The objective of our project is to demonstrate the feasibility of neonatal screening for spinal amyotrophy in two French regions before being able to propose to extend it to the whole of France. The management of all screened patients will be decided outside the pilot study, by the existing national multidisciplinary consultation meeting, according to the best available standards of care and will be based on the national network of neuromuscular disease reference centers The objective of the project is not the evaluation of the efficacy of treatments or neonatal screening: these objectives are being studied by existing or otherwise ongoing studies around the world.
Read more
This project has been set up to be in line with the existing structures in France that are responsible for neonatal screening (via the regional neonatal screening centers (CRDN) and the regional perinatal networks) and for the management of rare diseases (via the neuromuscular disease reference centers and their FILNEMUS network). This project is performed in collaboration with AFM Telethon, Directorate of Health Care Supply, Regional Health Agency (ARS), FILNEMUS network, Novartis Gene Therapies, Roche Pharma AG,Biogen.
Investigator wish, as far as possible, to bring this study closer to real life and to be able to generate as much information as possible that can be used directly to prefigure the potential generalization of this screening strategy to the entire national territory.
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Negatives cases | Not described | |
| Positive cases | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Completeness of screening for spinal muscular atrophy
The completeness of screening for spinal muscular atrophy will be measured by the ratio of the number of tests collected in our study to the number of births in the maternity units included in the study. This rate will also be complemented by the ratio of the number of tests collected in our study to the number of births recorded by the civil registry in the two study regions. These rates will be compared to the completeness rates observed in other European studies.
Measured: 2 years
Time frames calculation
The time required from birth to management in a multidisciplinary consultation meeting according to the existing procedure (videoconference or electronic discussion group) (=TRCP) and the time from birth to the effective start of treatment = (TTTT) will be calculated from the data collected in the Case Report Form (CRF) for positive cases. These times will be compared with the times observed in comparable programs worldwide. The time to effective treatment initiation will be compared to the 6-week postnatal target used in the pre-symptomatic clinical trials.
Measured: 2 years
Secondary outcomes (1)
Evaluation of screening costs
The study will distinguish between costs related to screening and those related to the follow-up and evaluation of the pilot (cost related to the clinical research status). Within the costs related to screening, it will distinguish between fixed costs (which do not depend on the number of screenings) and variable costs (depending on the number of screenings).
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Dec 2022
- Study start13 Dec 2022
- Primary completion12 Dec 2024 (estimated)
- Study completion12 Dec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Feasibility of Neonatal Screening for Spinal AmyotrophyStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe 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
- Other
- Time perspective
- Prospective
- Enrolment
- 220,000 participants (estimated)
- Target duration
- 2 Years
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Vincent LAUGEL, Principal investigator, Hôpitaux Universitaires de Strasbourg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05645250
- Sponsor's protocol ID
- 8121
- Acronym
- DEPISMA
- Status last verified
- Mar 2023
- First submitted
- 1 Dec 2022
- Last updated
- 8 Sep 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Feasibility of a Newborn Screening for Spinal Muscular Atrophy (SMA) in France: DEPISMA Prefigurator Project in Grand Est and Nouvelle Aquitaine
- ClinicalTrials.gov ID
- NCT05645250
- Acronym / sponsor ID
- DEPISMA / 8121
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 220,000 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 13 Dec 2022 (actual)
- Primary completion
- 12 Dec 2024 (estimated)
- Study completion
- 12 Dec 2024 (estimated)
- First posted
- 9 Dec 2022 (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 genetic disease of the nervous system that affects about 1 in 7,0001.2 births and results in very high mortality for patients with the disease. There are about 120 new cases in France each year and an estimated total of 2500 patients. It is the leading cause of genetic mortality in children in France. Until 2017, no etiological treatment was available. Currently, three treatments have been approved and have authorizations in France. The current clinical developments in SMA show the importance of an early treatment for patients. 3. The identification of pre-symptomatic patients is therefore essential to improve the effectiveness of treatments on an individual level and to avoid any loss of chance, as well as to reduce the societal cost of disability for patients treated in post-symptomatic. Several countries in Europe and around the world have implemented regional pilot screening programs for the disease. The screening test is based on a molecular genetic analysis that has been performed for many years, and which is highly reliable; there is currently no biochemical marker that can be used.
The objective of our project is to demonstrate the feasibility of neonatal screening for spinal amyotrophy in two French regions before being able to propose to extend it to the whole of France. The management of all screened patients will be decided outside the pilot study, by the existing national multidisciplinary consultation meeting, according to the best available standards of care and will be based on the national network of neuromuscular disease reference centers The objective of the project is not the evaluation of the efficacy of treatments or neonatal screening: these objectives are being studied by existing or otherwise ongoing studies around the world.
This project has been set up to be in line with the existing structures in France that are responsible for neonatal screening (via the regional neonatal screening centers (CRDN) and the regional perinatal networks) and for the management of rare diseases (via the neuromuscular disease reference centers and their FILNEMUS network). This project is performed in collaboration with AFM Telethon, Directorate of Health Care Supply, Regional Health Agency (ARS), FILNEMUS network, Novartis Gene Therapies, Roche Pharma AG,Biogen.
Investigator wish, as far as possible, to bring this study closer to real life and to be able to generate as much information as possible that can be used directly to prefigure the potential generalization of this screening strategy to the entire national territory.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Target follow-up
- 2 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Negatives cases | – | – |
| Positive cases | – | – |
Who may qualify
- Ages
- 1 day to 5 days
- Sex
- All
- Age groups
- Child
- Study population
- Participation in the study will be offered to the parents of all newborns meeting the inclusion criteria, along with the standard national newborn screening program
Key inclusion criteria (4 listed)
- - Newborns born in the Grand-Est or Nouvelle Aquitaine regions during the study period
- Parent(s) or legal guardian(s) who do not object to "conventional" newborn screening
- Parent(s) or legal guardian(s) who give consent for newborn screening for SMA
- Child with health coverage
Key exclusion criteria (1 listed)
- Parent(s) under curators or guardianship
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Completeness of screening for spinal muscular atrophy
Time frame: 2 years
The completeness of screening for spinal muscular atrophy will be measured by the ratio of the number of tests collected in our study to the number of births in the maternity units included in the study. This rate will also be complemented by the ratio of the number of tests collected in our study to the number of births recorded by the civil registry in the two study regions. These rates will be compared to the completeness rates observed in other European studies.
Time frames calculation
Time frame: 2 years
The time required from birth to management in a multidisciplinary consultation meeting according to the existing procedure (videoconference or electronic discussion group) (=TRCP) and the time from birth to the effective start of treatment = (TTTT) will be calculated from the data collected in the Case Report Form (CRF) for positive cases. These times will be compared with the times observed in comparable programs worldwide. The time to effective treatment initiation will be compared to the 6-week postnatal target used in the pre-symptomatic clinical trials.
1 secondary outcome
Evaluation of screening costs
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Sep 2023.
- Individual participant dataSharing planned: No
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. This study is not recruiting at the moment.
Vincent LAUGEL principal investigator
Hôpitaux Universitaires de Strasbourg
39 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Feasibility of Neonatal Screening for Spinal Amyotrophy, run by University Hospital, Strasbourg, France at 39 sites 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 4 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: status not confirmed, as of the sponsor's last update on 8 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 39 sites 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Vincent LAUGEL (33388127743, vincent.laugel@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Completeness of screening for spinal muscular atrophy (time frame: 2 years). The study lists 2 primary outcomes in all. 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 8 Sep 2023.