Respiratory Training in Friedreich's Ataxia

Impact of Respiratory Training in Swallowing and Respiratory Function in Patients With Friedreich's Ataxia

This is a prospective interventional study of patients with Friedreich's Ataxia that receive respiratory strength training for a period of 12 weeks with two research visits at the beginning and at the end of the study period. Visits include swallowing evaluation with fiberoptic endoscopic evaluation of swallowing, pulmonary function testing, surface electromyography and patient surveys.

Study Overview

• Status: Completed
• Conditions: Friedreich Ataxia
• Intervention / Treatment: Other: Respiratory Strength Training (RST)

• Study Type: Interventional
• Enrollment (Actual): 1
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Florida
    • Gainesville, Florida, United States, 32610
      • Clinical Research Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• confirmed genetic testing of Friedreich's Ataxia
• have an overall DIGEST score of 1 or higher based on FEES screening
• are able to perform pulmonary function testing

Exclusion Criteria:

• have been on antibiotics within 15 days prior to baseline screening.
• have been prescribed systemic corticosteroids or neuromuscular blocking agents within 15 days of the baseline screening
• have an allergy or contraindication to topical lidocaine or oxymetazoline
• have any other concurrent medical condition which, in the opinion of the investigators, would make the subject inappropriate to participate in testing or respiratory exercise

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Respiratory Strength Training (RST); Participants will receive a respiratory strength training device to take home and use up to 5 times a week for 12 weeks.	Other: Respiratory Strength Training (RST); Respiratory Strength training involves inhaling/exhaling against a fix resistant to potentially increase respiratory strength

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Force Vital Capacity	Forced Vital Capicity will be measured before and after the 12 week intervention	Through study completion (4 months)
Maximal Inspiratory Pressure (MIP)	Maximal Inspiratory Pressure (MIP) will be measured before and after the 12 week intervention	Through study completion (4 months)
Maximal Expiratory Pressure (MEP)	Maximal Expiratory Pressure (MEP) will be measured before and after the 12 week intervention	Through study completion (4 months)
Sniff Nasal Inspiratory Pressure (SNIP)	Sniff Nasal Inspiratory Pressure (SNIP) will be measured before and after the 12 week intervention	Through study completion (4 months)
Swallowing	Fiberoptic Endoscopic Evaluation of Swallowing (FEES) will be measured before and after the 12 week intervention.	Through study completion (4 months)
Surface Electromyography (sEMG)	sEMG will be placed on the skin to measure muscle activity involved in breathing and swallowing	Through study completion (4 months)
Diaphragm Ultrasound	Diaphragm movement will be measured through an ultrasound probe positioned on the skin before and after the 12 week intervention.	Through study completion (4 months)

Collaborators and Investigators

• Sponsor: University of Florida
• Investigators: Principal Investigator: Carmen Leon Astudillo, MD, University of Florida

Study record dates

Study Major Dates

• Study Start (Actual): August 29, 2024
• Primary Completion (Actual): August 7, 2025
• Study Completion (Actual): August 7, 2025

Study Registration Dates

• First Submitted: July 30, 2024
• First Submitted That Met QC Criteria: August 1, 2024
• First Posted (Actual): August 6, 2024

Study Record Updates

• Last Update Posted (Estimated): November 3, 2025
• Last Update Submitted That Met QC Criteria: October 30, 2025
• Last Verified: September 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolic Diseases; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Spinal Cord Diseases; Mitochondrial Diseases; Cerebellar Diseases; Spinocerebellar Degenerations; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Friedreich Ataxia
• Other Study ID Numbers: IRB202401099

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No