© Springer International Publishing Switzerland 2015
Raymond A. Huml (ed.)Muscular Dystrophy10.1007/978-3-319-17362-7_1414. Global and National Patient Registries
(1)
Biosimilars Center of Excellence, Quintiles Inc., 4820 Emperor Boulevard, Durham, NC 27703, USA
Introduction
An muscular dystrophy (MD) patient registry is a collection of secondary data related to patients (and therefore may include family members) with one of the nine types of MD. Registries can vary in sophistication from simple MS Excel spreadsheets that can be accessed only by a small group of physicians, to very complex databases that are accessed online across multiple institutions.
Due to the small numbers of patients with MD, it is important to identify patients quickly in order to share rapidly evolving scientific advances with them, advocate for them, and provide opportunities to advance our scientific knowledge about each type of MD so that, ultimately, a cure can be found.
Registries can play multiple roles including identifying MD patients for scientific research, clinical trials, and later, as products/drugs are approved for the treatment of MD, in the post-marketing surveillance of pharmaceuticals. Registries can also provide healthcare providers or patients with reminders of the need to undergo certain tests in order to reach quality goals.
Registries are less complex and simpler to set up than an electronic medical record, which keeps track of all the patients a doctor follows, while a registry only keeps track of a small subpopulation of patients with a specific condition.
Currently, many registries are only offered in one geographic area or for just one or two types of MD. The Muscular Dystrophy Association (MDA), the largest MD patient advocacy group in the world, recognizing how difficult it is to identify and find patients to study treatments for MD, is attempting to remedy this disparity and has posted two important news items applicable to patients afflicted with MD [1]:
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1.
The first, and most recent news item, is the solicitation for a patient registry and world map of people with certain types of myopathies (e.g., centronuclear [CNM]/myotubular myopathy [MTM]), which are being developed and are seeking participation from people with these disorders or their family members. This database is designed to allow researchers to better understand certain diseases and locate participants for clinical trials and other research studies.
The registry site will initially make possible the study of the natural history of each disease, which is the first step towards understanding the progression or course of the disease. This is especially important when determining if a new treatment or therapy has the potential to alter or stop disease progression (as compared with using a placebo or sugar pill) in a clinical study. Natural history is defined by the National Cancer Institute [2] as “a study that follows a group of people over time who have, or are at risk of developing, a specific medical condition or disease. A study that collects health information to understand how the medical condition or disease develops and how to treat it.” An alternative is the definition provided by Posada and Groft [3]: “The natural course of a disease from the time immediately prior to its inception, progressing through its presymptomatic phase and different clinical stages to the point where it has ended and the patient is either cured, chronically disabled or dead without external intervention.”
Given the potential for this information to be misused (e.g., individuals being targeted by insurance companies), patient privacy is protected and de-identified information will be shared only with “selected members of the research community” and a Scientific Advisory Board.
Registrants will receive email updates on research progress and be notified of trial participation opportunities. A de-identified “pin” will be added to the global map after a participant has given his or her approval for the posting.
“This information is crucial for helping us to understand the demographics of our community,” says the foundation’s website. “If you know of anyone affected with CNM/MTM, please direct them to this website and ask them to register.”
2.
Currently, the lack of a fully operational central registry database for patients with MD is problematic. With so many smaller registries scattered across the U.S., it is difficult for researchers to find enough patients to fulfill enrollment requirements for a proposed MD clinical study. Therefore, to address this issue, Quintiles, a biopharmaceutical services company, and the MDA announced a new partnership in October 2013 [4], to develop and implement the U.S. Neuromuscular Disease Registry, a patient registry that will play an important role in determining effective treatments for people with MD and related muscle diseases.
According to MDA’s Website, “We are making remarkable progress in researching new lifesaving treatments and cures for neuromuscular diseases as we move from bench to bedside in clinical trials,” said MDA Executive Vice President & Chief Medical and Scientific Officer Valerie Cwik, M.D. “We are committed to changing and saving the lives of the individuals and families we serve, and the U.S. Neuromuscular Disease Registry brings us one step closer to answering critical clinical and research questions that will improve quality of care.”Related posts:
Duchenne and Becker Muscular Dystrophies: Underlying Genetic and Molecular Mechanisms
Transition from Childhood to Adult in Patients with Muscular Dystrophy
Overview of Current Treatments for Muscular Dystrophy
Key Challenges to the Approval of Products to Treat Patients with Muscular Dystrophy
U.S. Patient Advocacy Groups
Summary
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