COMPLETED

Mechanisms and Treatment of Exercise Intolerance and Persistent Fatigue in Spinal Muscular Atrophy

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

This study will focus on the pathophysiological underpinnings of reduced exercise capacity and fatigue in ambulatory patients with spinal muscular atrophy (SMA). There has been laboratory evidence to suggest that the molecular mechanisms underlying mitochondrial biogenesis may be vulnerable to survival motor neuron (SMN) protein deficiency. This is an observational, single visit study including 34 ambulatory SMA patients treated with SMN repletion therapies (risdiplam or nusinersen) for at least 6 months at enrollment.

Official Title

Mechanisms and Treatment of Exercise Intolerance and Persistent Fatigue in Spinal Muscular Atrophy

Quick Facts

Study Start:2022-12-15
Study Completion:2025-11-14
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:COMPLETED

Study ID

NCT05518773

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:8 Years to 55 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT
Inclusion CriteriaExclusion Criteria
  1. * Genetic confirmation of SMA with laboratory documentation of homozygous deletion of survival motor neuron (SMN1) exon 7;
  2. * At least 8 years of age at time of signing Informed Consent Form (or assent)
  3. * Children or adults currently receiving treatment, for at least 6 months, with SMN repletion therapy, either with
  4. * Able to walk independently at least 25 meters
  5. * Able to tread a stationary cycle ergometer.
  1. * Unable to walk 25 meters independently.
  2. * Use of investigational medications intended for the treatment of SMA within 30 days prior to study entry.
  3. * The presence of any contraindication to exercise according the American College of Sports Medicine (ACSM) criteria.

Contacts and Locations

Principal Investigator

Jacqueline Montes, PT, EdD
PRINCIPAL_INVESTIGATOR
Columbia University

Study Locations (Sites)

Columbia University Irving Medical Center
New York, New York, 10032
United States

Collaborators and Investigators

Sponsor: Columbia University

  • Jacqueline Montes, PT, EdD, PRINCIPAL_INVESTIGATOR, Columbia University

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2022-12-15
Study Completion Date2025-11-14

Study Record Updates

Study Start Date2022-12-15
Study Completion Date2025-11-14

Terms related to this study

Keywords Provided by Researchers

  • spinal muscular atrophy
  • neuromuscular disease
  • risdiplam
  • nusinersen
  • aerobic capacity
  • oxygen uptake
  • fatigue
  • near infrared spectroscopy
  • muscle ultrasound
  • exercise tolerance
  • six minute walk test
  • mitochondria mitophagy
  • mitochondria
  • exercise
  • cycle ergometry
  • SMA

Additional Relevant MeSH Terms

  • Spinal Muscular Atrophy