Implementation of FEES in Spinal Muscle Atrophy

NCT04773470 | Completed

• 1 other identifier: DYSSMA1
• Study Type: interventional
• Target: 79
• Locations: 1 country
• Sites: 1

Brief Summary

The major aim of this project is to assess comprehensively frequency and extent of dysphagia and bulbar dysfunction in SMA1, 2, and 3 patients by applying FEES and validated dysphagia scores. Further aims are to follow changes of dysphagia over time in newly diagnosed patients, and in subjects starting treatment with one of the new therapeutic SMA drugs. Special attention will be paid to subjects treated with Risdiplam. If applicable, the data will be compared between groups receiving different drugs.

Conditions

Spinal Muscular Atrophy

Outcome Measures

Primary Outcomes (7)

• Secretion severity

  Change in presence and severity of dysphagia examined via FEES and scored by Murray´s Secretions Severity Rating Scale Minimum value: 0 Maximum value: 3 Higher scores mean worse outcome

  Baseline

• Dysphagia severity

  Change in presence and severity of dysphagia examined via FEES and scored by Rosenbek´s Penetration-Aspiration-Scale Minimum value: 1 Maximum value: 8 Higher scores mean worse outcome

  Baseline

• Pharyngeal residue severity

  Change in presence and severity of dysphagia examined via FEES and scored by Yale Pharyngeal Residue Severity Rating Scale Minimum value: 1 Maximum value: 5 Higher scores mean worse outcome

  Baseline

• Functional Oral Intake Scale

  Assessment of functional oral intake over time. Scored via Functional Oral Intake Scale (FOIS-G, German version): Minimum value 1, maximum value 7; lower scores mean worse outcome

  Baseline

• Severity of Dysphagia in Neuromuscular Diseases

  Severity of dysphagia in neuromuscular diseases paired with necessity of oropharyngeal and endotracheal suction as measuered via Neuromuscular Disease Swallowing Status Scale; Minimum value 1, maximum value 8; lower scores mean worse outcome

  Baseline

• Upper limb function

  Assessment specifically designed for upper limb function in SMA patients: RULM-Test (Revised Upper Limb Module); minimum value 1, maximum value 37; lower values mean worse outcome

  Baseline

• Functional motor abilites

  Functional motor abilities as measured by HFSME-Test (Hammersmith Functional Motor Scale). Minimum value 0, maximum value 2; lower values mean worse outcome

  Baseline

Study Arms (1)

Spinal Muscle Atrophy

EXPERIMENTAL

All patients with Spinal Muscle Atrophy type 1 to 4

Diagnostic Test: Flexible Endoscopic Evaluation of Swallowing

Interventions

Flexible Endoscopic Evaluation of Swallowing DIAGNOSTIC_TEST

Endoscopical swallowing study

Spinal Muscle Atrophy

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• All patients with genetically determined 5q-linked SMA followed at the neuromuscular center Gießen
• \- Informed and written consent signed by the patient or a legal guardian

You may not qualify if:

• Physical illness that, according to its type and severity, could interfere with the planned assessments, could have an influence on the parameters to be investigated or could endanger the patient or test person during the course of the investigation.
• Pregnancy or lactation and a positive pregnancy test
• Acute suicidal tendency or external danger
• Poor general condition

Sponsors & Collaborators

• University of Giessen: lead

Study Sites (1)

University Hospital Giessen and Marburg, Campus Giessen

Giessen, Hesse, 35392, Germany

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Samra Hamzic, MA

  University Giessen

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 19, 2020
• First Posted: February 26, 2021
• Study Start: February 1, 2022
• Primary Completion: September 1, 2024
• Study Completion: September 30, 2024
• Last Updated: December 10, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)