Oxidative Capacity and Exercise Tolerance in Ambulatory SMA

NCT02895789 | Completed

• 2 other identifiers: AAAQ94471K01HD084690-01A1
• Study Type: observational
• Target: 42
• Locations: 1 country
• Sites: 1

Brief Summary

This proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial function in ambulatory spinal muscular atrophy (SMA) patients and disease controls. It is a 6-month observational study including 14 ambulatory SMA patients, 14 ambulatory patients with mitochondrial myopathy, and 14 healthy controls.

Conditions

Spinal Muscular Atrophy Type 3; Mitochondrial Myopathy

Keywords

spinal muscular atrophy; oxidative capacity; exercise tolerance; mitochondrial myopathy; SMA; six minute walk test; neuromuscular disease; ambulation; exercise; mitochondria; cycle ergometry; near infrared spectroscopy

Outcome Measures

Primary Outcomes (1)

• Change in NIRS derived index of muscle oxygen extraction

  Near Infrared Spectroscopy (NIRS) is a simple, non-invasive method to measure oxygen in muscle and other tissues in vivo.

  baseline, 6 months

Secondary Outcomes (3)

• Change in Peak oxygen uptake (V02 max)

  baseline, 6 months

• Change in Distance walked during the Six Minute Walk Test (6MWT)

  baseline, 6 months

• Change in Lean body mass assessed with Dual Energy X-ray Absorptiometry (DEXA)

  baseline, 6 months

Study Arms (3)

spinal muscular atrophy

ambulatory children and adults ages between 8 and 55 years old by the time of enrollment with laboratory documentation of homozygous deletion of SMN1 exon 7

mitochondrial myopathy

ambulatory children and adults ages between 8 and 55 years old by the time of enrollment with genetic confirmation or evidence from muscle biopsy confirming the diagnosis

control

The healthy control group will be age and gender-matched to the SMA and mitochondrial myopathy groups as best as possible.

Eligibility Criteria

• Age: 8 Years - 55 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study sample will include 14 ambulatory SMA patients, 14 ambulatory mitochondrial myopathy patients, and 14 healthy controls.

You may qualify if:

• One of the following categories:
• Genetic confirmation of SMA with laboratory documentation of homozygous deletion of SMN1 exon 7;
• Genetic confirmation of mitochondrial myopathy or evidence from muscle biopsy confirming the diagnosis; or
• Healthy individuals.
• Able to walk independently at least 25 meters, and able to tread a stationary cycle ergometer.

You may not qualify if:

• Unable to walk 25 meters independently.
• Use of investigational medications intended for the treatment of SMA within 30 days prior to study entry.
• The presence of any contraindication to exercise according the ACSM criteria.
• Patients with and without Spinraza treatment are eligible.

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator
• Columbia University: lead
• Muscular Dystrophy Association: collaborator

Study Sites (1)

Columbia University Medical Center

New York, New York, 10032, United States

Location

MeSH Terms

Conditions

Spinal Muscular Atrophies of Childhood; Mitochondrial Myopathies; Muscular Atrophy, Spinal; Neuromuscular Diseases; Motor Activity

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Muscular Diseases; Musculoskeletal Diseases; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Behavior

Study Officials

• Jacqueline Montes, PT, EdD

  Columbia University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Rehabilitation and Regenerative Medicine , Rehab & Regenerative Med PT

Study Record Dates

• First Submitted: August 31, 2016
• First Posted: September 12, 2016
• Study Start: November 1, 2016
• Primary Completion: October 1, 2020
• Study Completion: January 1, 2021
• Last Updated: March 8, 2022

Record last verified: 2022-03

Locations

US (1)