Literature DB >> 33743771

Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders.

Hanns Lochmüller1,2,3, Antonio Nino Ramirez4, Emil Kakkis4.   

Abstract

It has recently been suggested that registries for rare neuromuscular diseases should be formed and governed exclusively by physicians and patients in an effort to limit conflicts of interest. Enacting such an approach would not only be challenging logistically and financially, but it would also exclude the involvement of sponsors, who are an integral component of drug development within the current compliance framework. Therefore, as an alternative to traditional registries, we propose the use of a better collaborative model for post-marketing follow-up that includes all stakeholders. We developed the concept of Disease Monitoring Programs (DMPs), which are designed to monitor disease manifestations over a 10-year period whether on a sponsored drug or not, and ensure consistent collection, ownership sharing and governance of data.

Entities:  

Keywords:  DMP; Data sharing; Disease monitoring program; GNE myopathy; GNE myopathy disease monitoring program; GNEM-DMP; Orphan drugs; Registries; Registry

Mesh:

Year:  2021        PMID: 33743771      PMCID: PMC7980582          DOI: 10.1186/s13023-021-01687-7

Source DB:  PubMed          Journal:  Orphanet J Rare Dis        ISSN: 1750-1172            Impact factor:   4.123


  8 in total

Review 1.  Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.

Authors:  Rachel Thompson; Agata Robertson; Hanns Lochmüller
Journal:  Adv Exp Med Biol       Date:  2017       Impact factor: 2.622

2.  'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

Authors:  Hanns Lochmüller; Yann Le Cam; Anneliene H Jonker; Lilian Pl Lau; Gareth Baynam; Petra Kaufmann; Paul Lasko; Hugh Js Dawkins; Christopher P Austin; Kym M Boycott
Journal:  Eur J Hum Genet       Date:  2016-10-26       Impact factor: 4.246

3.  Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.

Authors:  Oksana Pogoryelova; Phillip Cammish; Hank Mansbach; Zohar Argov; Ichizo Nishino; Alison Skrinar; Yiumo Chan; Shahriar Nafissi; Hosein Shamshiri; Emil Kakkis; Hanns Lochmüller
Journal:  Neuromuscul Disord       Date:  2017-11-14       Impact factor: 4.296

4.  Registries for orphan drugs: generating evidence or marketing tools?

Authors:  Carla E M Hollak; Sandra Sirrs; Sibren van den Berg; Vincent van der Wel; Mirjam Langeveld; Hanka Dekker; Robin Lachmann; Saco J de Visser
Journal:  Orphanet J Rare Dis       Date:  2020-09-03       Impact factor: 4.123

5.  Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy.

Authors:  Hanns Lochmüller; Anthony Behin; Ivailo Tournev; Mark Tarnopolsky; Rita Horváth; Oksana Pogoryelova; Jinay Shah; Tony Koutsoukos; Alison Skrinar; Emil Kakkis; Camille L Bedrosian; Tahseen Mozaffar
Journal:  J Neuromuscul Dis       Date:  2021

6.  The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Authors:  Hanns Lochmüller; Josep Torrent I Farnell; Yann Le Cam; Anneliene H Jonker; Lilian Pl Lau; Gareth Baynam; Petra Kaufmann; Hugh Js Dawkins; Paul Lasko; Christopher P Austin; Kym M Boycott
Journal:  Eur J Hum Genet       Date:  2017-11-20       Impact factor: 4.246

7.  SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.

Authors:  Astrid Pechmann; Kirsten König; Günther Bernert; Kristina Schachtrup; Ulrike Schara; David Schorling; Inge Schwersenz; Sabine Stein; Adrian Tassoni; Sibylle Vogt; Maggie C Walter; Hanns Lochmüller; Janbernd Kirschner
Journal:  Orphanet J Rare Dis       Date:  2019-01-21       Impact factor: 4.123

8.  The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Through a Nationwide, Pan-Neuromuscular Disease Registry.

Authors:  V Hodgkinson; J Lounsberry; S M'Dahoma; A Russell; T Benstead; B Brais; C Campbell; W Johnston; H Lochmüller; A McCormick; C T Nguyen; E O'Ferrall; M Oskoui; H Briemberg; P Bourque; S Botez; N Cashman; K Chapman; N Chrestian; M Crone; P Dobrowolski; S Dojeiji; J J Dowling; N Dupré; A Genge; H Gonorazky; I Grant; S Hasal; A Izenberg; S Kalra; H Katzberg; C Krieger; E Leung; G Linassi; A Mackenzie; J K Mah; A Marrero; R Massie; G Matte; L McAdam; H McMillan; M Melanson; M M Mezei; C O'Connell; G Pfeffer; C Phan; S Plamondon; C Poulin; X Rodrigue; K Schellenberg; K Selby; J Sheriko; C Shoesmith; G Smith; M Taillon; S Taylor; S Venance; J Warman-Chardon; S Worley; L Zinman; L Korngut
Journal:  J Neuromuscul Dis       Date:  2020-08-31
  8 in total
  3 in total

1.  Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.

Authors:  Amel Karaa; Laura E MacMullen; John C Campbell; John Christodoulou; Bruce H Cohen; Thomas Klopstock; Yasutoshi Koga; Costanza Lamperti; Rob van Maanen; Robert McFarland; Sumit Parikh; Shamima Rahman; Fernando Scaglia; Alexander V Sherman; Philip Yeske; Marni J Falk
Journal:  Adv Genet (Hoboken)       Date:  2021-12-19

2.  The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study.

Authors:  Dariusz Walkowiak; Kamila Bokayeva; Alua Miraleyeva; Jan Domaradzki
Journal:  Front Public Health       Date:  2022-04-08

3.  Real-world use of orphan medicinal products (OMPs) in rare disease (RD) patients: A population-based registry study.

Authors:  Monica Mazzucato; Cinzia Minichiello; Andrea Vianello; Laura Visonà Dalla Pozza; Ema Toto; Paola Facchin
Journal:  Front Pharmacol       Date:  2022-09-30       Impact factor: 5.988

  3 in total

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