4th International Summer School on Rare Disease and Orphan Drug Registries. The Italian Duchenne and Becker Muscular Dystrophy Patients Registry

Transcription

1 4th International Summer School on Rare Disease and Orphan Drug Registries The Italian Duchenne and Becker Muscular Dystrophy Patients Registry Fernanda De Angelis Parent Project Onlus Organised by Istituto Superiore di Sanità Rome (Italy), September 26-28, 2016

2 PARENT PROJECT ONLUS Staff: 30 collaborators including specialists as biologists, psychologists, so cial assistants and physiotherapists. The main office is in Rome but there are many local offices working together with the local communities to improve quality of life and fundraise for research. Founded in Italy, after Usa and the Netherlands, in 1996; Entirely focused on DMD/BMD, we take a comprehensive approach funding research, raising awareness, promoting advocacy, connecting the community and broadening treatment options; in contact with about 800 families Mission: Improve the treatment, quality of life, and long-term outlook for all individuals affected by Duchenne and Becker Muscular Dystrophy. 2

3 Duchenne Muscular Distrophy DMD is the most frequent pediatric muscle disorder -Is a rare genetic disease -DMD affect 1:3500 to 5000 newborn boys -Caused by mutations in the distrophyn gene -Distrophyn absent lead to progressive muscle weakness Not affected DMD Becker muscular dystrophy (BMD) is generally less severe than Duchenne, occurs when dystrophin is produced, but not inthenormalformoramount. 3

4 OBJECTIVES To identify, support, and share promising Duchenne-related research. To make state-of-the-art information about treatment and care options available to all members of the Duchenne community. To pursue strategies that will impact this generation of young men affected by Duchenne as well as future generations. To encourage policymakers to afford the same priority to Duchenne as they would to other disorders of similar incidence and prevalence. To create a supportive community for people affected by Duchenne 4

5 The Italian DMD/BMD patients Registry Itwascreatedin2008byParentProjectOnlusanditwas(probably) the first genetic registry run by patients. ItwascreatedtobeincludedintheGlobalTREAT-NMD*Registry- TREAT-NMD is a network for the neuromuscular field that provides an infrastructure To ensure that the most promising new therapies reach patients as quickly as possible To promote development of tools (that industry, clinicians and scientists need) to bring novel therapeutic approaches through preclinical development and into the clinic establishing best-practice care for neuromuscular patients worldwide. the Global TREAT-NMD Registry (31 countries > patients worldwide with a confirmed DMD/BMD diagnosis) defined and set up some international standards requirements. *Translational Research in Europe for the Assessment and Treatment of Neuromuscular Diseases 5

6 WHY Before 2007 there were a number of indipendent registry already in existence for DMD, however. the information stored in these registries was not freely available by the scientific comunity; there were differences in the type of patient data collected and stored in each registry All national registries that are part of the TREAT-NMD Global Registries collect as a minimum a standardized core set of information 6

7 The Italian DMD/BMD patients Registry It s an online database designed to collect data that can help to better understand the disease and accelerate the development of new therapeutic approaches. The registry store all the patient s personal data and their clinical and genetic informations. Typeand numberof clinicaldata collectedby the registryhave beenstrictlyselectedto getthe maximum benefit from a minimum set of informations. 7

8 RePaItalia: Goals To create a national database with updated information (clinical, genetic) on the pathology. To get a better epidemiological characterization of the disease. Tocreateanusefultoolandacceleratethedesignofclinicaltrialsatan international level. To allow patients to be informed regarding new clinical trials and to offer an easy and quick tool to facilitate the enrollment. To create a valuable source of reliable and updated information for the entire community Duchenne and Becker. >>>>>To collect data/disseminate information in order to accelerate the development of new clinical and therapeutic approaches for DMD and BMD. 8

9 RePa Italia facts 727 patients, constant growth rate 9

10 RePa Italia diagnosis Diagnosis n. patients DMD 545 BMD 109 IMD 16 Carrier 51 UNK 57 10

11 RePa Italia moleculardiagnosis DMD BMD IMD UNK WITH WITHOUT

12 Users and Tools Researchers and Industries Only have access to encrypted data and statistical analysis Clinicians/Professionals Full access to their own patients data, they can see aggregated data and statistical data for the rest of the registry Design and implementation of clinical trials Improve our knowledge about natural history and epidemiological characterization of the disease Patients/Families/Caregivers Full access to their own data, they can see aggregated data and statistical data for the rest of the registry Help spread the news regarding new clinical trials 12

13 RePa Italia Clinical Trials Biotech Enquiry to Treat-NMD Global Registry Treat-NMD Oversight Committee Evaluation Treat-NMD Coordinator Enquiry to the national Registries National Registries (depending on the enquiry): Send (encrypted) data to the global registry i.e. feasibility study Send recruitment letters to eligible patients i.e. international (multicenter) clinical trial 13

14 RePa Italy: Enquiries

15 DMD clinical Trial in Italy Molecules/drug Company or istitution Drisapersen* BMN-044 BMN-045 BMN-053 SRP-4053 Catena/Raxone* Translarna* BioMarin BioMarin BioMarin BioMarin Sarepta Santhera PTC Therapeutics Pre-clinicPhase 1Phase 2 Phase 3 Givinostat PF Rimeporide Italfarmaco Pfizer EspeRare FOR DMD 15

16 770 patients (122 italian) > patients 16

17 RECOMMENDATIONS - Carefully select the aims of your registry - Check whether there are international or national registries focused on your disease already in place - Talk with allthe stakeholdersto be sureto be aware of their needs - When you design the registry remember that you will probably need to reshape it several times as new knowledge will be available 17