Muscular Dystrophy, DuchenneNCT02369731
Registry of Translarna (Ataluren) in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
An observational study of Muscular Dystrophy, Duchenne, run by PTC Therapeutics at 71 sites in 16 countries.
Trial summary
This study is being performed as a post-approval safety study (PASS), per the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA), to gather data on Translarna (ataluren) safety, effectiveness, and prescription patterns in routine clinical practice. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Muscular Dystrophy, Duchenne
- How many people
- 316 participants
- Where
- 71 sitesin 16 countries
- Study dates
- 30 Apr 2015to 31 Mar 2025
- How long will I take part?
- 5 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 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The target study population will include participants for whom the decision to prescribe Translarna (outside of a clinical trial) has already been made, including participants in named participant early access programs. Participants within each prescriber's practice who are or will be receiving treatment with Translarna, and who meet the eligibility criteria and provide informed consent (either by the participant or through authorisation by a legal guardian) will be invited to enroll into the study and will be followed according to the protocol.
Who may be able to join
- Receiving or will be receiving usual care treatment with commercial supply of Translarna (or receiving care within a named participant early access program)
- Willing to provide written informed consent to allow the study data collection procedures (either by the participant or through authorisation by a legal guardian)
Who cannot join
- Participants who are receiving ataluren or placebo in a blinded, randomized clinical trial, or ataluren in any other ataluren clinical trial or cohort early access program that prevents participation in this study
Trial locations and contacts
71 sites in 16 countries.
71 sites in 16 countries
France17 sites
CHU de Bordeaux Hôpital Pellegrin Enfant
Bordeaux, 33076
CHRU de Brest Hôpital Morvan
Brest, 29200
Hospices Civils de Lyon Groupement Hospitalier Est - Bâtiment "Les Tilleuls"
Bron, 69677
CHU de Clermont-Ferrand, hôpital Estaing
Clermont-Ferrand, 63003
CHU de Martinique - Hôpital P. Zobda-Quitman
Fort de France Cedex, 97261
CHRU de Lille
Lille, 59037
CHU de Marseille Hôpital de la Timone
Marseille, 13385
CHU de Nantes
Nantes, 44093
Hôpital Armand Trousseau
Paris, 75012
Hôpital Necker - Enfants malades
Paris, 75015
CHU de Reims American Memorial Hospital
Reims, 51092
CHU de Saint-Etienne Hôpital Bellevue
Saint-Etienne, 42055
CHU de la Réunion - GHSR - GH Sud-Réunion
Saint-Pierre, 97448
CHU de Strasbourg
Strasbourg, 67098
CHU de Toulouse Hôpital Pierre Paul Riquet
Toulouse, 31059
CHRU de Tours Hôpital Bretonneau
Tours, 37044
CHU de Nancy Hôpital de Brabois-Enfants Rue du Morvan
Vandœuvre-lès-Nancy, 54400
Italy12 sites
IRCSS Istituto delle Scienze Neurologiche
Bologna, 40133
Istituto Giannina Gaslini
Genova, 16147
AOU Policlinico "G. Martino"
Messina, 98125
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, 20122
IRCCS Istituto Neurologico Carlo Besta
Milan, 20133
ASST Grande Ospedale Metropolitano Niguarda
Milan, 20162
II Policlinico Neurofisiopatologia (Edificio 11 G)
Naples, 80131
Cardiomiologia e Genetica Medica Primo Policlinico
Naples, 80138
AO Padova Clinica Neurologica
Padova, 35128
Fondazione Policlinico Universitario Agostino Gemelli
Roma, 00168
Bambino Gesù Children's Hospital
Rome, 00146
Ospedale Molinette SCDU Neuropsichiatria Infantile AO Città della Salute e della Scienza di Torino
Torino, 10126
Germany10 sites
Klinikum Bayreuth GmbH
Bayreuth, 95445
Sozialpädiatrisches Zentrum (SPZ) Charité Berlin
Berlin, 13353
Universitätsklinikum Erlangen
Erlangen, 91054
Universitaetsklinikum Essen (AoR)
Essen, 45122
SPZ Frankfurt Mitte
Frankfurt am Main, 60316
Universitaetsklinikum Freiburg
Freiburg im Breisgau, 79106
MVZ Kinder- und Jugendärzte Fürth GmbH
Fürth, 90762
Universitätskinderklinik Gießen
Giessen, 35385
Klinik und Poliklinik f. Kinder- und Jugendmedizin
Hamburg, 20246
Muskelzentrum, Schwerpunkt Neuropädiatrie
Kassel, 34125
United Kingdom10 sites
Birmingham Heartlands Hospital
Birmingham, B9 5SS
Bristol Children's Hospital
Bristol, BS2 8BJ
Addenbrooke's Hospital
Cambridge, CB2 0QQ
Children Hospital - Children's Neurosciences Leeds TEACHING HOSPITALS NHS Trust
Leeds, LS1 3EX
Children's Hospital Alder Hey Children's Hospital NHS Trust
Liverpool, L12 2AP
St Thomas' Hospital Children Services
London, SE1 7EH
UCL Great Ormond Street Institute of Child Health
London, WC1N 1EH
Royal Manchester Children's Hospital
Manchester, M13 9WL
The John Walton Muscular Dystrophy Research Centre
Newcastle, NE1 3BZ
NIHR Lancashire Clinical Research Facility Royal Preston Hospital
Preston, PR2 9HT
Israel3 sites
Hadassah Mount Scopus Medical Center
Jerusalem, 91240
Schneider Medical Center Tel Aviv University
Petah Tikva, 49202
Sheba Medical Center The Joseph Sagol EMG, Neuroscience Center
Ramat Gan, 52621
Portugal3 sites
Centro Hospitalar e Universitário de coimbra EPE - Hospital Pediátrico de Coimbra
Coimbra, 3000-075
Centro Hospitalar Lisboa Norte EPE - Hospital de Santa Maria
Lisbon, 1649-035
Centro Hospitalar do Porto EPE - Hospital Geral de Santo António
Porto, 4099-001
Austria2 sites
Krankenhaus der Barmherzigen Schwestern Linz
Linz, 4010
Sozialmedizinisches Zentrum Süd Kaiser-Franz-Josef Spital mit Gottfried von Preyer´schen Kinderspital
Vienna, 1100
Czechia2 sites
The University Hospital Brno
Brno, 62500
Motol University Hospital
Praha 5 - Motol, 15006
Greece2 sites
Children's Hospital "Aghia Sophia"
Athens, 11527
Ahepa University Hospital
Thessaloniki, 54621
Hungary2 sites
Semmelweis Egyetem II (Semmelweis University II)
Budapest, 01094
Szent László Kórház Gyermekneurológiai szakrendelés
Budapest
Romania2 sites
Spitalul Clinic de Copii "Dr. Victor Gomoiu" Sectia Clinica Neurologie Pediatrica
Bucharest, 22113
Regina Maria Policlinica Opera Center
Bucharest
Sweden2 sites
Göteborgs Universitet Avdelningen för pediatrik vid institutionen för kliniska vetenskaper
Gothenburg, 41685
Karolinska Institutet
Stockholm, 17176
Brazil1 site
Hospital das Clínicas da Universidade de São Paulo
São Paulo, 05403-000
Norway1 site
St. Olavs hospital University children's clinical hospital
Trondheim, NO-7006
Slovenia1 site
University Children's Hospital University Medical Centre Ljubljana
Ljubljana, 1000
About this study
Official title: Long-Term Observational Study of Translarna Safety and Effectiveness in Usual Care
This study is being performed as a post-approval safety study (PASS), per the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA), to gather data on Translarna (ataluren) safety, effectiveness, and prescription patterns in routine clinical practice.
Read the detailed description
This is a multicenter, observational study of participants receiving Translarna based on inclusion of their data in a registry. This study is intended to enroll 360 participants across ~50 care centers in Europe and other regions over a period of ~ 2 years. The study population will include participants who are receiving usual care treatment with commercial supply of Translarna (or receiving care within a named participant early access program) and who provide consent. Participants will be followed for at least 5 years from their date of enrollment. Safety and efficacy data will be collected in conjunction with routine visits conducted as per usual care. Although there are no protocol-mandated procedures, it is expected that physicians and other caregivers will follow published treatment guidelines and standards of care.
- Conditions
- Muscular Dystrophy, Duchenne
- Medical subject headings
- Muscular Dystrophy, Duchenne
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 |
|---|---|---|
| Translarna | Participants with nmDMD receiving Translarna will be followed for at least 5 years from their date of enrollment, or until participant withdrawal of consent or death, whichever occurs first. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of Participants With Adverse Events
Measured: 5 years
Secondary outcomes (1)
Prescriber and Participant Compliance With Prescribing Information According to the Approved Labelling
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Feb 2015 (estimated)
- Study start30 Apr 2015
- Primary completion31 Mar 2025
- Study completion31 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Muscular Dystrophy, DuchenneStudies 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 316 participants (actual)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- PTC Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- The John Walton Muscular Dystrophy Research Centre (TREAT-NMD), Cooperative International Neuromuscular Research Group
- Responsible party
- Sponsor
- Investigators
- Shelley Johnson, Study director, PTC Therapeutics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02369731
- Sponsor's protocol ID
- PTC124-GD-025o-DMD
- Status last verified
- Apr 2025
- First submitted
- 28 Jan 2015
- Last updated
- 24 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
Mercuri E, Osorio AN, Muntoni F, Buccella F, Desguerre I, Kirschner J, Tulinius M, de Resende MBD, Morgenroth LP, Gordish-Dressman H, Johnson S, Kristensen A, Werner C, Trifillis P, Henricson EK, McDonald CM; STRIDE and CINRG DNHS investigators. Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis. J Neurol. 2023 Aug;270(8):3896-3913. doi: 10.1007/s00415-023-11687-1. Epub 2023 Apr 28.
PubMed 37115359Mercuri E, Muntoni F, Osorio AN, Tulinius M, Buccella F, Morgenroth LP, Gordish-Dressman H, Jiang J, Trifillis P, Zhu J, Kristensen A, Santos CL, Henricson EK, McDonald CM, Desguerre I; STRIDE; CINRG Duchenne Natural History Investigators. Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. J Comp Eff Res. 2020 Apr;9(5):341-360. doi: 10.2217/cer-2019-0171. Epub 2020 Jan 30.
PubMed 31997646
Study at a glance
From the registry record, last updated by the sponsor on 24 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Long-Term Observational Study of Translarna Safety and Effectiveness in Usual Care
- ClinicalTrials.gov ID
- NCT02369731
- Acronym / sponsor ID
- PTC124-GD-025o-DMD
- Conditions
- Muscular Dystrophy, Duchenne
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 316 participants (actual)
- Lead sponsor
- PTC TherapeuticsIndustry (pharma, biotech, devices)
- Collaborators
- The John Walton Muscular Dystrophy Research Centre (TREAT-NMD), Cooperative International Neuromuscular Research Group
- Study start
- 30 Apr 2015 (actual)
- Primary completion
- 31 Mar 2025 (actual)
- Study completion
- 31 Mar 2025 (actual)
- First posted
- 24 Feb 2015 (estimated)
- 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.
This study is being performed as a post-approval safety study (PASS), per the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA), to gather data on Translarna (ataluren) safety, effectiveness, and prescription patterns in routine clinical practice.
Detailed description
This is a multicenter, observational study of participants receiving Translarna based on inclusion of their data in a registry. This study is intended to enroll 360 participants across ~50 care centers in Europe and other regions over a period of ~ 2 years. The study population will include participants who are receiving usual care treatment with commercial supply of Translarna (or receiving care within a named participant early access program) and who provide consent. Participants will be followed for at least 5 years from their date of enrollment. Safety and efficacy data will be collected in conjunction with routine visits conducted as per usual care. Although there are no protocol-mandated procedures, it is expected that physicians and other caregivers will follow published treatment guidelines and standards of care.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Translarna | – | –Participants with nmDMD receiving Translarna will be followed for at least 5 years from their date of enrollment, or until participant withdrawal of consent or death, whichever occurs first. |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The target study population will include participants for whom the decision to prescribe Translarna (outside of a clinical trial) has already been made, including participants in named participant early access programs. Participants within each prescriber's practice who are or will be receiving treatment with Translarna, and who meet the eligibility criteria and provide informed consent (either by the participant or through authorisation by a legal guardian) will be invited to enroll into the study and will be followed according to the protocol.
Key inclusion criteria (2 listed)
- Receiving or will be receiving usual care treatment with commercial supply of Translarna (or receiving care within a named participant early access program)
- Willing to provide written informed consent to allow the study data collection procedures (either by the participant or through authorisation by a legal guardian)
Key exclusion criteria (1 listed)
- Participants who are receiving ataluren or placebo in a blinded, randomized clinical trial, or ataluren in any other ataluren clinical trial or cohort early access program that prevents participation in this study
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
Percentage of Participants With Adverse Events
Time frame: 5 years
1 secondary outcome
Prescriber and Participant Compliance With Prescribing Information According to the Approved Labelling
Time frame: 5 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Feb 2026.
- Derived from this study: PubMed 37115359Mercuri E, Osorio AN, Muntoni F, Buccella F, Desguerre I, Kirschner J, Tulinius M, de Resende MBD, Morgenroth LP, Gordish-Dressman H, Johnson S, Kristensen A, Werner C, Trifillis P, Henricson EK, McDonald CM; STRIDE and CINRG DNHS investigators. Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis. J Neurol. 2023 Aug;270(8):3896-3913. doi: 10.1007/s00415-023-11687-1. Epub 2023 Apr 28.
- Derived from this study: PubMed 31997646Mercuri E, Muntoni F, Osorio AN, Tulinius M, Buccella F, Morgenroth LP, Gordish-Dressman H, Jiang J, Trifillis P, Zhu J, Kristensen A, Santos CL, Henricson EK, McDonald CM, Desguerre I; STRIDE; CINRG Duchenne Natural History Investigators. Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. J Comp Eff Res. 2020 Apr;9(5):341-360. doi: 10.2217/cer-2019-0171. Epub 2020 Jan 30.
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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. This study is not recruiting at the moment.
Shelley Johnson study director
PTC Therapeutics
71 sites in 16 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Muscular Dystrophy, Duchenne, run by PTC Therapeutics at 71 sites in 16 countries.
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 2 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: finished, as of the sponsor's last update on 24 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 71 sites in France, Italy, Germany, United Kingdom, Israel and 11 more countries. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Percentage of Participants With Adverse Events (time frame: 5 years). 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 NCT02369731, which also lists 2 linked publications.
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 24 Feb 2026.