Clinical trial NCT02369731: Registry of Translarna (Ataluren) in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
Official title: Long-Term Observational Study of Translarna Safety and Effectiveness in Usual Care
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Muscular Dystrophy, Duchenne
Lead sponsor: PTC Therapeutics
Sponsor class: INDUSTRY
Collaborators: name: The John Walton Muscular Dystrophy Research Centre (TREAT-NMD)
name: Cooperative International Neuromuscular Research Group
First posted: 2015-02-24
Enrollment: 316
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

Brief 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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Percentage of Participants With Adverse Events
timeFrame: 5 years
Secondary outcomes:
measure: Prescriber and Participant Compliance With Prescribing Information According to the Approved Labelling
timeFrame: 5 years
Other outcomes:
measure: Participant Health Management Measures
timeFrame: 5 years
Locations:
city: Linz
country: Austria
facility: Krankenhaus der Barmherzigen Schwestern Linz
city: Wien
country: Austria
facility: Sozialmedizinisches Zentrum Süd Kaiser-Franz-Josef Spital mit Gottfried von Preyer´schen Kinderspital
city: São Paulo
country: Brazil
facility: Hospital das Clínicas da Universidade de São Paulo
city: Brno
country: Czechia
facility: The University Hospital Brno
city: Praha 5 - Motol
country: Czechia
facility: Motol University Hospital
city: Bordeaux Cedex
country: France
facility: CHU de Bordeaux Hôpital Pellegrin Enfant
city: Brest
country: France
facility: CHRU de Brest Hôpital Morvan
city: Bron Cedex
country: France
facility: Hospices Civils de Lyon Groupement Hospitalier Est - Bâtiment "Les Tilleuls"
city: Clermont-Ferrand
country: France
facility: CHU de Clermont-Ferrand, hôpital Estaing
city: Fort De France Cedex
country: France
facility: CHU de Martinique - Hôpital P. Zobda-Quitman
city: Lille Cedex
country: France
facility: CHRU de Lille
city: Marseille Cedex 5
country: France
facility: CHU de Marseille Hôpital de la Timone
city: Nantes
country: France
facility: CHU de Nantes
city: Paris
country: France
facility: Hôpital Armand Trousseau
city: Paris
country: France
facility: Hôpital Necker - Enfants malades
city: Reims Cedex
country: France
facility: CHU de Reims American Memorial Hospital
city: Saint Etienne Cedex 2
country: France
facility: CHU de Saint-Etienne Hôpital Bellevue
city: Saint Pierre
country: France
facility: CHU de la Réunion - GHSR - GH Sud-Réunion
city: Strasbourg Cedex
country: France
facility: CHU de Strasbourg
city: Toulouse Cedex
country: France
facility: CHU de Toulouse Hôpital Pierre Paul Riquet
city: Tours
country: France
facility: CHRU de Tours Hôpital Bretonneau
city: Vandoeuvre-les-Nancy
country: France
facility: CHU de Nancy Hôpital de Brabois-Enfants Rue du Morvan
city: Bayreuth
country: Germany
facility: Klinikum Bayreuth GmbH
city: Berlin
country: Germany
facility: Sozialpädiatrisches Zentrum (SPZ) Charité Berlin
city: Erlangen
country: Germany
facility: Universitätsklinikum Erlangen
city: Essen
country: Germany
facility: Universitaetsklinikum Essen (AoR)
city: Frankfurt am Main
country: Germany
facility: SPZ Frankfurt Mitte
city: Freiburg
country: Germany
facility: Universitaetsklinikum Freiburg
city: Fürth
country: Germany
facility: MVZ Kinder- und Jugendärzte Fürth GmbH
city: Gießen
country: Germany
facility: Universitätskinderklinik Gießen
city: Hamburg
country: Germany
facility: Klinik und Poliklinik f. Kinder- und Jugendmedizin
city: Kassel
country: Germany
facility: Muskelzentrum, Schwerpunkt Neuropädiatrie
city: Athens
country: Greece
facility: Children's Hospital "Aghia Sophia"
city: Thessaloniki
country: Greece
facility: Ahepa University Hospital
city: Budapest
country: Hungary
facility: Semmelweis Egyetem II (Semmelweis University II)
city: Budapest
country: Hungary
facility: Szent László Kórház Gyermekneurológiai szakrendelés
city: Jerusalem
country: Israel
facility: Hadassah Mount Scopus Medical Center
city: Petah Tikva
country: Israel
facility: Schneider Medical Center Tel Aviv University
city: Ramat Gan
country: Israel
facility: Sheba Medical Center The Joseph Sagol EMG, Neuroscience Center
city: Bologna
country: Italy
facility: IRCSS Istituto delle Scienze Neurologiche
city: Genova
country: Italy
facility: Istituto Giannina Gaslini
city: Messina
country: Italy
facility: AOU Policlinico "G. Martino"
city: Milano
country: Italy
facility: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
city: Milano
country: Italy
facility: IRCCS Istituto Neurologico Carlo Besta
city: Milano
country: Italy
facility: ASST Grande Ospedale Metropolitano Niguarda
city: Napoli
country: Italy
facility: II Policlinico Neurofisiopatologia (Edificio 11 G)
city: Napoli
country: Italy
facility: Cardiomiologia e Genetica Medica Primo Policlinico
city: Padova
country: Italy
facility: AO Padova Clinica Neurologica
city: Roma
country: Italy
facility: Fondazione Policlinico Universitario Agostino Gemelli
city: Rome
country: Italy
facility: Bambino Gesù Children's Hospital
city: Torino
country: Italy
facility: Ospedale Molinette SCDU Neuropsichiatria Infantile AO Città della Salute e della Scienza di Torino
city: Riga
country: Latvia
facility: Bērnu klīniskā universitātes slimnīca
city: Trondheim
country: Norway
facility: St. Olavs hospital University children's clinical hospital
city: Coimbra
country: Portugal
facility: Centro Hospitalar e Universitário de coimbra EPE - Hospital Pediátrico de Coimbra
city: Lisboa
country: Portugal
facility: Centro Hospitalar Lisboa Norte EPE - Hospital de Santa Maria
city: Porto
country: Portugal
facility: Centro Hospitalar do Porto EPE - Hospital Geral de Santo António
city: Bucharest
country: Romania
facility: Spitalul Clinic de Copii "Dr. Victor Gomoiu" Sectia Clinica Neurologie Pediatrica
city: Bucharest
country: Romania
facility: Regina Maria Policlinica Opera Center
city: Ljubljana
country: Slovenia
facility: University Children's Hospital University Medical Centre Ljubljana
city: Goteborg
country: Sweden
facility: Göteborgs Universitet Avdelningen för pediatrik vid institutionen för kliniska vetenskaper
city: Stockholm
country: Sweden
facility: Karolinska Institutet
city: Birmingham
country: United Kingdom
facility: Birmingham Heartlands Hospital
city: Bristol
country: United Kingdom
facility: Bristol Children's Hospital
city: Cambridge
country: United Kingdom
facility: Addenbrooke's Hospital
city: Leeds
country: United Kingdom
facility: Children Hospital - Children's Neurosciences Leeds TEACHING HOSPITALS NHS Trust
city: Liverpool
country: United Kingdom
facility: Children's Hospital Alder Hey Children's Hospital NHS Trust
city: London
country: United Kingdom
facility: St Thomas' Hospital Children Services
city: London
country: United Kingdom
facility: UCL Great Ormond Street Institute of Child Health
city: Manchester
country: United Kingdom
facility: Royal Manchester Children's Hospital
city: Newcastle
country: United Kingdom
facility: The John Walton Muscular Dystrophy Research Centre
city: Preston
country: United Kingdom
facility: NIHR Lancashire Clinical Research Facility Royal Preston Hospital
Study officials:
affiliation: PTC Therapeutics
name: Shelley Johnson
role: STUDY_DIRECTOR
References:
citation: Mercuri 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.