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

April 16, 2024 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

Active, not recruiting

Conditions

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

Observational

Enrollment (Actual)

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
      • Wien, 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 Cedex, France, 33076
        • CHU de Bordeaux Hôpital Pellegrin Enfant
      • Brest, France, 29200
        • CHRU de Brest Hôpital Morvan
      • Bron Cedex, 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 Cedex, France, 59037
        • CHRU de Lille
      • Marseille Cedex 5, 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 Cedex, France, 51092
        • CHU de Reims American Memorial Hospital
      • Saint Etienne Cedex 2, France, 42055
        • CHU de Saint-Etienne Hôpital Bellevue
      • Saint Pierre, France, 97448
        • CHU de la Réunion - GHSR - GH Sud-Réunion
      • Strasbourg Cedex, France, 67098
        • CHU de Strasbourg
      • Toulouse Cedex, France, 31059
        • CHU de Toulouse Hôpital Pierre Paul Riquet
      • Tours, France, 37044
        • CHRU de Tours Hôpital Bretonneau
      • Vandoeuvre-les-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, 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"
      • Milano, Italy, 20122
        • Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
      • Milano, Italy, 20162
        • Asst Grande Ospedale Metropolitano Niguarda
      • Milano, 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
      • Padova, Italy, 35128
        • AO Padova Clinica Neurologica
      • Roma, Italy, 00168
        • Fondazione Policlinico Universitario Agostino Gemelli
      • Rome, Italy, 00146
        • Bambino Gesù 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
      • Lisboa, 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
      • Goteborg, 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

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
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

Outcome Measure
Time Frame
Percentage of Participants With Adverse Events
Time Frame: 5 years
5 years

Secondary Outcome Measures

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

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

PTC Therapeutics

Collaborators

Cooperative International Neuromuscular Research Group
The John Walton Muscular Dystrophy Research Centre (TREAT-NMD)

Investigators

  • 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)

April 30, 2015

Primary Completion (Estimated)

May 30, 2025

Study Completion (Estimated)

May 30, 2025

Study Registration Dates

First Submitted

January 28, 2015

First Submitted That Met QC Criteria

February 17, 2015

First Posted (Estimated)

February 24, 2015

Study Record Updates

Last Update Posted (Actual)

April 17, 2024

Last Update Submitted That Met QC Criteria

April 16, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID 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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