Collaborative Clinical Research Network in Friedreich's Ataxia
The Collaborative Clinical Research Network in Friedreich's Ataxia (CCRN in FA) is an international network of clinical research centers that work together to advance treatments and clinical care for individuals with Friedreich's ataxia. The network collaborates with pharmaceutical companies, government agencies and other research centers and the patient community to facilitate clinical research and trials needed to identify new therapies.
The Core Objectives of the Network
- Identifying and validating clinical outcome measures and biomarkers in FA that are necessary for clinical trials
- Facilitating the implementation and delivery of clinical trials
- Sharing data and resources to advance treatments for FA
- Defining best clinical practices for FA and providing the highest level of clinical care for patients
At each clinical research center there is a team of researchers, physicians and health care providers dedicated to FA.
The CCRN in FA is funded by the Friedreich's Ataxia Research Alliance.
Each of the CCRN in FA sites is a place where FA patients can go to participate in research studies and to receive clinical care. At every site researchers are conducting natural history and clinical outcome measure studies. These are studies that document the clinical symptoms and progression of FA and evaluate specific tests or measures, such as a neurological scale, timed walk, speech, vision, and quality of life measures, that can be used in future clinical trials. All of the research data collected at each site is gathered into a combined database. Some sites have additional studies, such as hearing evaluations, biomarker studies, and clinical trials.
The investigators and coordinators at each of these sites are very familiar with medical issues related to FA and can provide clinical services as well.
We recommend that you contact the site located close to you to learn about the studies and clinical services being offered.
The CCRN in FA can assist you in offering your patients access to clinical research studies in FA. The investigators and coordinators at each of the sites can work with you to provide guidance on updates in clinical care and management for your patients.
The CCRN in FA wants to work with researchers (academic, pharmaceutical, biotechnology and government) to facilitate investigations of novel interventions and bring improved clinical outcomes to FA patients. Specifically, the CCRN in FA has an established infrastructure that can support the following:
- Facilitation in recruitment and planning of clinical trials - The CCRN in FA has a dedicated Data and Clinical Trial Core that is experienced in the planning and conduct of clinical trials for neurodegenerative diseases. Services utilized can range from planning consultation to full implementation and coordination of a study.
- Natural history and outcome measures in FA - The CCRN in FA was formed from a group of investigators who were previously collaborating to develop clinical outcome measures in FA. Longitudinal data is available and continues to be collected and shared publically with the FA research community. A list of such publications is accessible in the right hand column.
- Partnership for new clinical studies to support the advancement of novel interventions, such as biomarker development, new outcome measure development, and genetic studies. The CCRN in FA can function as the clinical site for a new study providing access to patients and their relevant clinical data, handling the procurement of biological tissues and fluids, and assisting with preparation and filing of the necessary regulatory approvals.
Researchers who would like to learn more about the CCRN in FA or discuss a study should contact the network PI: David Lynch, MD, PhD, Lynchd@mail.med.upenn.edu, 215-590-2242 or Coordinator: Jennifer Farmer, MS, email@example.com, (484) 879-6160
Network Principal Investigator
Dr. David R. Lynch
Children's Hospital of Philadelphia
Jennifer Farmer, MS, CGC
Data & Clinical Trial Coordination
Dr. Cindy Casaceli
University of Rochester
Biorepository (DNA, RNA and Plasma)
Giovanni Coppola, UCLA
and David Lynch, CHOP
Children's Hospital of Philadelphia - Philadelphia, PA
Principal Investigator - Dr. David Lynch
University of California Los Angeles - Los Angeles, CA
Principal Investigator - Dr. Susan Perlman
Emory University - Atlanta, GA
Principal Investigator, Dr. George Wilmot
Rebecca S. McMurray, RN, MSN
University of Iowa - Iowa City, IA
Principal Investigator - Dr. Kathy Matthews
Carrie Stephan, RN
University of Florida - Gainesville, FL
Principal Investigator - Dr. Sub Subramony
Phuong Deleyrolle, RN
Ohio State University - Columbus, OH
Principal Investigator - Dr. J. Chad Hoyle
Sick Kids - Toronto ON, Canada
Principal Investigator – Dr. Grace Yoon
Clinical Data Science GmbH - Switzerland
Lead Statistician/Data Scientist -
Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database
Brain (2013) 136 (1): 259-268. doi: 10.1093/brain/aws309
Common data elements for clinical research in Friedreich's ataxia
Mov Disord. 2012 Dec 12
Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants
J Child Neurol. 2012 Jun 29
Cross-Sectional Analysis of Electrocardiograms in a Large Heterogeneous Cohort of Friedreich Ataxia Subjects
J Child Neurol. 2012 Jun 29
Myers L, et al.
Antioxidant use in Friedreich ataxia
Subramony SH, et al.
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
Lynch DR, et al.
Performance measures in Friedreich ataxia: potential utility as clinical outcome tools