Clinical trial NCT03090789: FA Clinical Outcome Measures
Official title: Clinical Outcome Measures in Friedreich's Ataxia
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Friedreich Ataxia
Neuro-Degenerative Disease
Keywords: Friedreich Ataxia
Neuro-degenerative disease
Lead sponsor: Friedreich's Ataxia Research Alliance
Sponsor class: OTHER
Collaborators: name: University of Rochester
name: Children's Hospital of Philadelphia
First posted: 2017-03-27
Enrollment: 2000
Sex: ALL
Minimum age (years): 4
Maximum age (years): 80
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants with either a clinical diagnosis or genetic test confirmation of Friedreich ataxia. Study also accepts carriers of Friedreich ataxia along with healthy volunteers.

Brief summary: This multicenter natural history study aims to expand the network of clinical research centers in FA, and to provide a framework for facilitating therapeutic interventions. In addition, this study will lead to the development of valid yet sensitive clinical measures crucial to outcome assessment of patients with Friedreich's Ataxia. This study will support genetic modifier studies, biomarker studies, and frataxin protein level assessments by building a sample repository.

This natural history study is no longer recruiting under this protocol NCT03090789 but remains actively recruiting under the harmonized study (UNIFAI) NCT06016946.

Detailed description: Friedreich's ataxia (FA) is a rare autosomal recessive degenerative disorder characterized by ataxia, dysarthria, sensory loss, diabetes and cardiomyopathy. The discovery of the abnormal gene in FA and its product (frataxin) has provided insight into possible pathophysiological mechanisms and novel approaches to treatments in this disease. While such methods for assessing disease progression may be useful, evaluation in clinical trials will require specific clinical outcome measures.

This is a multicenter natural history study which aims to expand the network of clinical research centers specializing in Friedreich's Ataxia and to advance clinical care, research and therapeutic approaches in FA through the development and validation of clinical outcome measures. Study sites aim to collect quantitative serial clinical data on patients with FA and expand the existing research network. In addition, the study will support various genetic modifier studies, biomarker studies, and frataxin protein level assessments in patients with FA, in carriers, and in controls.

This study will recruit up to 2000 patients with Friedreich ataxia worldwide, to be assessed annually for up to 15 years. All individuals with a genetic or clinical diagnosis of FA can participate.

Study participation involves yearly assessments of a core set of clinical measures and quality of life assessment measures in addition to optional collection of a cheek swab and/or blood sample.

Eligibility criteria: Inclusion Criteria:

1. Males or females age 4 to 80 years.
2. Genetically confirmed diagnosis of FA (for carrier/control cheek swab and blood samples this is not required).
3. Clinically confirmed diagnosis of FA, pending confirmatory genetic testing through a commercial or research laboratory (for carrier/control cheek swab and blood samples this is not required).
4. Parental/guardian permission (informed consent) and if appropriate, child assent.

Exclusion Criteria:

1) Signs or symptoms of severe cardiomyopathy (such as congestive heart failure)

Primary outcomes:
measure: Friedreich Ataxia Rating Scale
timeFrame: once every 1 year
Secondary outcomes:
measure: 9-hole peg test
timeFrame: once every 1 year
measure: timed 25 foot walk
timeFrame: once every 1 year
measure: Vision assessment
timeFrame: once every 1 year
measure: Quality of Life Questionnaires
timeFrame: once every 1 year
Other outcomes:
measure: Optional sample collection
timeFrame: once every 1 year
Locations:
city: Los Angeles
country: United States
facility: UCLA Ataxia Center
state: California
city: Denver
country: United States
facility: University of Colorado
state: Colorado
city: Gainesville
country: United States
facility: University of Florida - Neurology
state: Florida
city: Tampa
country: United States
facility: USF Ataxia Research Center
state: Florida
city: Atlanta
country: United States
facility: Emory University Hospital - Neurology
state: Georgia
city: Iowa City
country: United States
facility: University of Iowa, Stead Family Children's Hospital
state: Iowa
city: Columbus
country: United States
facility: Ohio State University - Neurology
state: Ohio
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia - Neurology
state: Pennsylvania
city: Memphis
country: United States
facility: St. Jude Children's Research Hospital
state: Tennessee
city: Parkville
country: Australia
facility: Murdoch Childrens Research Institute
state: Victoria
city: Toronto
country: Canada
facility: The Hospital for Sick Children
state: Ontario
city: Montréal
country: Canada
facility: CHUM - Hopital Notre-Dame
state: Quebec
city: New Delhi
country: India
facility: All India Institute of Medical Sciences (Aiims)
city: Auckland
country: New Zealand
facility: Auckland City Hospital
Study officials:
affiliation: Children's Hospital of Philadelphia
name: David Lynch, MD PhD
role: PRINCIPAL_INVESTIGATOR
References: