Research and clinical programs

Clinical Network & Trials

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.


CCRN Contacts and Sites
Network Principal Investigator
Dr. David R. Lynch
lynchd@mail.med.upenn.edu
Children's Hospital of Philadelphia
Network Coordinator
Jennifer Farmer, MS, CGC
jen.farmer@curefa.org (484) 879-6160
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
Coordinators – Karlla Brigatti & Lauren Seyer, Brigatti@email.chop.edu & SeyerL@email.chop.edu
Telephone, (267) 426-7538
University of California Los Angeles - Los Angeles, CA
Principal Investigator - Dr. Susan Perlman
Coordinator - Brian Clemente bclemente@mednet.ucla.edu
Telephone: (310) 206-8153
University of Chicago - Chicago, IL
Principal Investigator, Dr. Christopher Gomez
Coordinator - Vicki Staszak RN, MS/MBA
vstaszak@neurology.bsd.uchicago.edu
Telephone: (773) 702-5545
Emory University - Atlanta, GA
Principal Investigator, Dr. George Wilmot
Coordinator - Rebecca S. McMurray, RN, MSN rebecca.s.mcmurray@emory.edu
Telephone: (404) 728-6427
University of Iowa - Iowa City, IA
Principal Investigator - Dr. Kathy Matthews
Coordinator - Carrie Stephan, RN, carrie-stephan@uiowa.edu
Telephone: (319) 356-2673
Data Coordination: University of Rochester - Rochester, NY
Principal Investigator – Dr. Cindy Casaceli
Information Analyst – Lisa Rumfola PhD Project Manager – Alice Rudolph Telephone: (585) 275-7311
University of Florida - Gainesville, FL
Principal Investigators - Drs. Tetsuo Ashizawa and Sub Subramony
Coordinator - Cristin Williams, cristinwilliams@ufl.edu
Telephone: (352) 273-9194

University of South Florida - Tampa, FL
Principal Investigator - Dr. Theresa Zesiewicz
Coordinators – Kevin Allison & Kelly Sullivan
kgalliso@mail.usf.edu & kbarber@health.usf.edu
Telephone: (813) 974-5909

The Bruce Lefroy Centre for Genetic Health Research
Murdoch Children's Research Institute - Melbourne, Australia

Principal Investigator - Dr. Martin Delatycki
Coordinator - Geneieve Tai & Louise Corben, geneieve.tai@mcri.edu.au & louise.corben@ghsv.org.au
Telephone: (613) 8341-6374

The Ohio State University - Columbus, OH
Principal Investigator - Dr. J. Chad Hoyle
Coordinator – Colleen Pineda, Colleen.Pineda@osumc.edu
Telephone: (614) 685-5661

Sick Kids - Toronto ON, Canada
Principal Investigator – Dr. Grace Yoon
Telephone: (416) 813-6389

For Patients

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.

For Physicians

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.

For Researchers

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, jen.farmer@curefa.org, (484) 879-6160

Recruitment Notices
An open-label study of Acetyl-L-Carnitine on cardiovascular outcomes in FA at USF PDF
VP-20629 Trial in FA Patients
Open-label pilot study of interferon gamma-1b (Actimmune™) for the treatment of Friedreich Ataxia at CHOP PDF
EPI-743 trial in FA patients
Enrollment at USF
Enrollment at UCLA
Enrollment at CHOP

Clinical Outcome Measures Study at the University of South Florida


PDF

Clinical Outcome Measures Trial at the University of Chicago

PDF

FA Cardiac Study 2012

FA Cardiac Study (word doc)


Effect of Nicotinamide (Vitamin B3) in Friedreich's Ataxia


URL


Publications

2013
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

2012
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

2011
Lynch DR, et al.
Analysis of Echocardiograms in a Large Heterogeneous Cohort of Patients With Friedreich Ataxia

2008
Myers L, et al.
Antioxidant use in Friedreich ataxia

2006
Lynch DR, et al.
Measuring Friedreich ataxia: complementary features of examination and performance measures

2005
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


CCRN in FA
Case Report Forms

Friedreich Ataxia Rating Scale (FARS) - The FARS is comprised of a neurological exam, functional staging and activities of daily living. CRFs for all three components are available below (in PDF format)
 
Neuro Exam
 
Functional Staging
 
Activities of Daily Living