Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration

Description

This is an observational study to investigate the improvement of NMJ defects in adult patients with SMA following treatment with Risdiplam. Eligible patients will have received treatment with daily oral Risdiplam after receiving approval through their commercial insurance or drug assistance program. All subjects will be evaluated at one visit. Eligible subjects must have been receiving risdiplam for at least 12 months.

Conditions

Spinal Muscular Atrophy

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Study Overview

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Study Details

Study overview

This is an observational study to investigate the improvement of NMJ defects in adult patients with SMA following treatment with Risdiplam. Eligible patients will have received treatment with daily oral Risdiplam after receiving approval through their commercial insurance or drug assistance program. All subjects will be evaluated at one visit. Eligible subjects must have been receiving risdiplam for at least 12 months.

Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration

Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration

Condition
Spinal Muscular Atrophy
Intervention / Treatment

-

Contacts and Locations

Columbus

The Ohio State University Wexner Medical Center, Columbus, Ohio, United States, 43210

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.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Signed Informed Consent Form
  • * Age 18-70 years at time of signing Informed Consent Form
  • * Able and willing to provide written informed consent and to comply with the program protocol according to ICH and local regulations
  • * Ability to comply with the study protocol, in the investigator's judgment
  • * Adequately recovered from any acute illness at the time of screening, and considered clinically well enough to participate, in the opinion of the treating physician
  • * Patients with retinopathy of prematurity should have evidence of stable disease
  • * Genetic confirmation of 5q SMA documented on standard genetic tests for the disorder
  • * Treated with risdiplam for a duration of 12 months or longer
  • * Treatment with an investigational therapy within 180 days prior to initiation of study drug
  • * History of established diagnosis of neuromuscular junction disorder
  • * Co-morbid conditions that preclude travel or testing
  • * Patients who are, in the investigator's opinion, mentally or legally incapacitated to provide an informed consent

Ages Eligible for Study

18 Years to 70 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Bakri Elsheikh,

Bakri Elsheikh, MBBS, PRINCIPAL_INVESTIGATOR, Ohio State University

Study Record Dates

2024-12-31