Registry of Translarna (Ataluren) in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

February 20, 2026 updated by: PTC Therapeutics

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

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 Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
316

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Austria
      • Linz, Austria, 4010
        • Krankenhaus Der Barmherzigen Schwestern Linz
      • Vienna, Austria, 1100
        • Sozialmedizinisches Zentrum Süd Kaiser-Franz-Josef Spital mit Gottfried von Preyer´schen Kinderspital
  • Brazil
      • São Paulo, Brazil, 05403-000
        • Hospital das Clínicas da Universidade de São Paulo
  • Czechia
      • Brno, Czechia, 62500
        • The University Hospital Brno
      • Praha 5 - Motol, Czechia, 15006
        • Motol University Hospital
  • France
      • Bordeaux, France, 33076
        • CHU de Bordeaux Hôpital Pellegrin Enfant
      • Brest, France, 29200
        • CHRU de Brest Hôpital Morvan
      • Bron, France, 69677
        • Hospices Civils de Lyon Groupement Hospitalier Est - Bâtiment "Les Tilleuls"
      • Clermont-Ferrand, France, 63003
        • CHU de Clermont-Ferrand, hôpital Estaing
      • Fort de France Cedex, France, 97261
        • CHU de Martinique - Hôpital P. Zobda-Quitman
      • Lille, France, 59037
        • CHRU de Lille
      • Marseille, France, 13385
        • CHU de Marseille Hôpital de la Timone
      • Nantes, France, 44093
        • CHU de Nantes
      • Paris, France, 75015
        • Hopital Necker - Enfants Malades
      • Paris, France, 75012
        • Hôpital Armand Trousseau
      • Reims, France, 51092
        • CHU de Reims American Memorial Hospital
      • Saint-Etienne, France, 42055
        • CHU de Saint-Etienne Hôpital Bellevue
      • Saint-Pierre, France, 97448
        • CHU de la Réunion - GHSR - GH Sud-Réunion
      • Strasbourg, France, 67098
        • CHU de Strasbourg
      • Toulouse, France, 31059
        • CHU de Toulouse Hôpital Pierre Paul Riquet
      • Tours, France, 37044
        • CHRU de Tours Hôpital Bretonneau
      • Vandœuvre-lès-Nancy, France, 54400
        • CHU de Nancy Hôpital de Brabois-Enfants Rue du Morvan
  • Germany
      • Bayreuth, Germany, 95445
        • Klinikum Bayreuth GmbH
      • Berlin, Germany, 13353
        • Sozialpädiatrisches Zentrum (SPZ) Charité Berlin
      • Erlangen, Germany, 91054
        • Universitätsklinikum Erlangen
      • Essen, Germany, 45122
        • Universitaetsklinikum Essen (AoR)
      • Frankfurt am Main, Germany, 60316
        • SPZ Frankfurt Mitte
      • Freiburg im Breisgau, Germany, 79106
        • Universitaetsklinikum Freiburg
      • Fürth, Germany, 90762
        • MVZ Kinder- und Jugendärzte Fürth GmbH
      • Giessen, Germany, 35385
        • Universitätskinderklinik Gießen
      • Hamburg, Germany, 20246
        • Klinik und Poliklinik f. Kinder- und Jugendmedizin
      • Kassel, Germany, 34125
        • Muskelzentrum, Schwerpunkt Neuropädiatrie
  • Greece
      • Athens, Greece, 11527
        • Children's Hospital "Aghia Sophia"
      • Thessaloniki, Greece, 54621
        • Ahepa University Hospital
  • Hungary
      • Budapest, Hungary, 01094
        • Semmelweis Egyetem II (Semmelweis University II)
      • Budapest, Hungary
        • Szent László Kórház Gyermekneurológiai szakrendelés
  • Israel
      • Jerusalem, Israel, 91240
        • Hadassah Mount Scopus Medical Center
      • Petah Tikva, Israel, 49202
        • Schneider Medical Center Tel Aviv University
      • Ramat Gan, Israel, 52621
        • Sheba Medical Center The Joseph Sagol EMG, Neuroscience Center
  • Italy
      • Bologna, Italy, 40133
        • IRCSS Istituto delle Scienze Neurologiche
      • Genova, Italy, 16147
        • Istituto Giannina Gaslini
      • Messina, Italy, 98125
        • AOU Policlinico "G. Martino"
      • Milan, Italy, 20122
        • Fondazione IRCCS CA' Granda Ospedale Maggiore Policlinico
      • Milan, Italy, 20162
        • ASST Grande Ospedale Metropolitano Niguarda
      • Milan, Italy, 20133
        • IRCCS Istituto Neurologico Carlo Besta
      • Napoli, Italy, 80131
        • II Policlinico Neurofisiopatologia (Edificio 11 G)
      • Napoli, Italy, 80138
        • Cardiomiologia e Genetica Medica Primo Policlinico
      • Padua, Italy, 35128
        • AO Padova Clinica Neurologica
      • Roma, Italy, 00168
        • Fondazione Policlinico Universitario Agostino Gemelli
      • Rome, Italy, 00146
        • Bambino Gesu Children's Hospital
      • Torino, Italy, 10126
        • Ospedale Molinette SCDU Neuropsichiatria Infantile AO Città della Salute e della Scienza di Torino
  • Latvia
      • Riga, Latvia
        • Bērnu klīniskā universitātes slimnīca
  • Norway
      • Trondheim, Norway, NO-7006
        • St. Olavs hospital University children's clinical hospital
  • Portugal
      • Coimbra, Portugal, 3000-075
        • Centro Hospitalar e Universitário de coimbra EPE - Hospital Pediátrico de Coimbra
      • Lisbon, Portugal, 1649-035
        • Centro Hospitalar Lisboa Norte EPE - Hospital de Santa Maria
      • Porto, Portugal, 4099-001
        • Centro Hospitalar do Porto EPE - Hospital Geral de Santo António
  • Romania
      • Bucharest, Romania, 22113
        • Spitalul Clinic de Copii "Dr. Victor Gomoiu" Sectia Clinica Neurologie Pediatrica
      • Bucharest, Romania
        • Regina Maria Policlinica Opera Center
  • Slovenia
      • Ljubljana, Slovenia, 1000
        • University Children's Hospital University Medical Centre Ljubljana
  • Sweden
      • Gothenburg, Sweden, 41685
        • Göteborgs Universitet Avdelningen för pediatrik vid institutionen för kliniska vetenskaper
      • Stockholm, Sweden, 17176
        • Karolinska Institutet
  • United Kingdom
      • Birmingham, United Kingdom, B9 5SS
        • Birmingham Heartlands Hospital
      • Bristol, United Kingdom, BS2 8BJ
        • Bristol Children's Hospital
      • Cambridge, United Kingdom, CB2 0QQ
        • Addenbrooke's Hospital
      • Leeds, United Kingdom, LS1 3EX
        • Children Hospital - Children's Neurosciences Leeds TEACHING HOSPITALS NHS Trust
      • Liverpool, United Kingdom, L12 2AP
        • Children's Hospital Alder Hey Children's Hospital NHS Trust
      • London, United Kingdom, WC1N 1EH
        • UCL Great Ormond Street Institute of Child Health
      • London, United Kingdom, SE1 7EH
        • St Thomas' Hospital Children Services
      • Manchester, United Kingdom, M13 9WL
        • Royal Manchester Children's Hospital
      • Newcastle, United Kingdom, NE1 3BZ
        • The John Walton Muscular Dystrophy Research Centre
      • Preston, United Kingdom, PR2 9HT
        • NIHR Lancashire Clinical Research Facility Royal Preston Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

2 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

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.

Description

Inclusion Criteria:

  • 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)

Exclusion Criteria:

  • 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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
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 the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Time Frame
Percentage of Participants With Adverse Events
Time Frame: 5 years
5 years

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Time Frame
Prescriber and Participant Compliance With Prescribing Information According to the Approved Labelling
Time Frame: 5 years
5 years

Other Outcome Measures

Other Outcome Measures

For clinical trials, a planned measurement described in the protocol that is used to determine the effect of an intervention/treatment on participants. For observational studies, a measurement or observation that is used to describe patterns of diseases or traits, or associations with exposures, risk factors, or treatment. Types of outcome measures include primary outcome measure and secondary outcome measure.
Outcome Measure
Time Frame
Participant Health Management Measures
Time Frame: 5 years
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
PTC Therapeutics

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Cooperative International Neuromuscular Research Group
The John Walton Muscular Dystrophy Research Centre (TREAT-NMD)

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Study Director: Shelley Johnson, PTC Therapeutics

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
April 30, 2015

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
March 31, 2025

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
March 31, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
January 28, 2015

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
February 17, 2015

First Posted (Estimated)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
February 24, 2015

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
February 24, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
February 20, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
April 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • PTC124-GD-025o-DMD

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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