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, firstname.lastname@example.org, (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
University of California Los Angeles - Los Angeles, CA
Principal Investigator - Dr. Susan Perlman
UCLA Ataxia Center
For clinic appointments: (310) 794-1195
For research questions: (310) 206-8153
Airport: Los Angeles International (LAX)
Children's Hospital of Philadelphia - Philadelphia, PA
Principal Investigator - Dr. David Lynch
Coordinator – Lauren Hauser (267) 426-7538
Info for travel to CHOP
Airport: Philadelphia International (PHL)
Centre hospitalier de l'Universite de Montreal (CHUM)
Principal Investigator - Dr. Antoine Duquette
Coordinator - Monica Beland (514) 890-8000 ext 36512
Airport: Montreal Trudeau International Airport (YUL)
University of Colorado - Denver, CO
Principal Investigator - Dr. Lauren Seeberger
Coordinator – Erin Clark (404) 724-1121
Airport: Denver International (DIA)
University of Florida - Gainesville, FL
Principal Investigator - Dr. Sub Subramony
Coordinator - Samantha Norman, MPH, BS (352) 273-8218
Gainesville Regional (GNV)
Orlando International (MCO)
Tampa International (TPA)
Hotels near the clinic site:
Hilton University of Florida Conference Center
1714 SW 34th St
Gainesville, FL 32607
Home2Suites by Hilton
2115 SW 13th St
Gainesville, FL 32608
Holiday Inn University Center
1250 W University Ave
Gainesville, FL 32601
DoubleTree by Hilton
3726 Southwest 40 Boulevard
Gainesville, FL 32608
University of South Florida - Tampa, FL
Principal Investigator - Dr. Theresa Zesiewicz
Coordinator – Magee McGriff (813) 974-1414
Airport: Tampa International (TPA)
Emory University - Atlanta, GA
Principal Investigator, Dr. George Wilmot
Coordinator - Jonna Seppa (404) 712-7013
Airport: Hartsfield Jackson Atlanta International (ATL)
Hotels near the clinic site:
at Executive Park
1236 Executive Park Dr NE
Atlanta, GA 30329
DOUBLETREE by HILTON
2061 N Druid Hills Rd. NE
Atlanta, GA. 30329
1975 North Druid Hills
Atlanta, GA. 30329
University of Iowa - Iowa City, IA
Principal Investigator - Dr. Kathy Matthews
Coordinator - Corey McDaniel (319) 335-7498
Ohio State University - Columbus, OH
Principal Investigator - Dr. J. Chad Hoyle
Coordinator – Marco Tellez (614) 688-7837
Info for travel to Ohio State
Airport: John Glenn Columbus International (CMH)
The Bruce Lefroy Centre for Genetic Health Research
Murdoch Children's Research Institute - Melbourne, Australia
Principal Investigator - Dr. Martin Delatycki
Coordinators - Geneieve Tai & Louise Corben (613) 8341-6374
Sick Kids - Toronto ON, Canada
Principal Investigator – Dr. Grace Yoon (416) 813-6389
Coordinator - Bianca Perro (416) 813-7654 X 228623
Auckland City Hospital
Principal Investigator - Dr. Richard Roxburgh
Coordinator - Miriam Rodrigues (649) 373-7599
University of Rochester - Rochester, NY
Principal Investigator – Dr. Cindy Casaceli
Information Analyst – Lisa Rumfola
PhD Project Manager – Alice Rudolph (585) 275-7311
Clinical Data Science GmbH - Switzerland
Lead Statistician/Data Scientist - Christian Rummey email@example.com
Predictors of loss of ambulation in Friedreich's ataxia
EClinicalMedicine. 2020 Jan 8;18:100213. doi: 10.1016/j.eclinm.2019.11.006. eCollection 2020 Jan.
Correlation of Visual Quality of Life With Clinical and Visual Status in Friedreich Ataxia
J Neuroophthalmol. 2020 Jan 17. doi: 10.1097/WNO.0000000000000878. [Epub ahead of print]
Psychometric properties of the Friedreich Ataxia Rating Scale
Neurol Genet. 2019 Oct 29;5(6):371. doi: 10.1212/NXG.0000000000000371. eCollection 2019 Dec.
Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort
J Neurol Sci. 2020 Mar 15;410:116642. doi: 10.1016/j.jns.2019.116642. Epub 2019 Dec 24.
Longitudinal analysis of contrast acuity in Friedreich ataxia
Neurol Genet. 2018 Jul 23;4(4):e250. doi: 10.1212/NXG.0000000000000250. eCollection 2018 Aug.
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia
J Child Neurol. 2018 May;33(6):397-404. doi: 10.1177/0883073818764941. Epub 2018 Apr 2.
Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients
Hum Mol Genet. 2018 Sep 1;27(17):2965-2977. doi: 10.1093/hmg/ddy198.
Impact of diabetes in the Friedreich ataxia clinical outcome measures study
Ann Clin Transl Neurol. 2017 Jul 26;4(9):622-631. doi: 10.1002/acn3.439. eCollection 2017 Sep.
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency
J Child Neurol. 2016 Aug;31(9):1161-5. doi: 10.1177/0883073816643408. Epub 2016 Apr 12.
Progression of Friedreich ataxia: quantitative characterization over 5 years
Ann Clin Transl Neurol. 2016 Jul 25;3(9):684-94. doi: 10.1002/acn3.332. eCollection 2016 Sep.
Geographic and Sociodemographic Features of Friedreich Ataxia: Implications for Clinical Research.
Journal of Rare Disorders. 2016. Vol 4, Issue 1
Frataxin levels in peripheral tissue in Friedreich ataxia
Ann Clin Transl Neurol. 2015 Aug;2(8):831-42. doi: 10.1002/acn3.225. Epub 2015 Jul 1.
Consensus clinical management guidelines for Friedreich ataxia
Orphanet J Rare Dis. 2014 Nov 30;9:184. doi: 10.1186/s13023-014-0184-7.
Analysis of the visual system in Friedreich ataxia
J Neurol. 2013 Sep;260(9):2362-9. doi: 10.1007/s00415-013-6978-z. Epub 2013 Jun 18.
Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database
Brain, Volume 136, Issue 1, January 2013, Pages 259–268
Common data elements for clinical research in Friedreich's ataxia
Mov Disord. 2013 Feb;28(2):190-5. doi: 10.1002/mds.25201. Epub 2012 Dec 12.
Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants
J Child Neurol. 2012 Sep;27(9):1152-8. doi: 10.1177/0883073812448462. Epub 2012 Jun 29.
Cross-Sectional Analysis of Electrocardiograms in a Large Heterogeneous Cohort of Friedreich Ataxia Subjects
J Child Neurol. 2012 Sep;27(9):1187-92. doi: 10.1177/0883073812448461. Epub 2012 Jun 29.
Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia
Am J Cardiol. 2012 Feb 1;109(3):401-5. doi: 10.1016/j.amjcard.2011.09.025. Epub 2011 Nov 10.
FXN methylation predicts expression and clinical outcome in Friedreich ataxia
Ann Neurol. 2012 Apr;71(4):487-97. doi: 10.1002/ana.22671.
Health-related quality of life in children with Friedreich ataxia
Pediatr Neurol. 2010 May;42(5):335-7. doi: 10.1016/j.pediatrneurol.2010.01.002.
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design
Mov Disord. 2010 Mar 15;25(4):426-32. doi: 10.1002/mds.22912.
Health related quality of life measures in Friedreich Ataxia
J Neurol Sci. 2008 Sep 15;272(1-2):123-8. doi: 10.1016/j.jns.2008.05.009. Epub 2008 Jun 20.
Antioxidant use in Friedreich ataxia
J Neurol Sci. 2008 Apr 15;267(1-2):174-6. Epub 2007 Nov 7.
Measuring Friedreich ataxia: complementary features of examination and performance measures
Neurology. 2006 Jun 13;66(11):1711-6.
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
Neurology. 2005 Apr 12;64(7):1261-2.
Performance measures in Friedreich ataxia: potential utility as clinical outcome tools
Mov Disord. 2005 Jul;20(7):777-82.