Inspiratory Muscle Training in Nemaline Myopathy

NCT03728803 | Completed

• 1 other identifier: NL65214.091.18
• Study Type: interventional
• Target: 42
• Locations: 1 country
• Sites: 1

Brief Summary

Nemaline myopathy is a rare congenital myopathy. Respiratory failure is the main cause of death in these patients. The primary objective of this study is to determine the effect of a 8-week inspiratory muscle training program on respiratory muscle function in nemaline myopathy patients. The secondary objective is to determine respiratory muscle function in nemaline myopathy patients and its correlation with clinical severity and general neuromuscular function. The nemaline myopathy patients will be included in the first phase for a clinical characterization. From this phase patients will be selected for the second phase, which is a controlled before-after trial of inspiratory muscle training. The primary outcome is the change in maximal inspiratory pressure (MIP) after active inspiratory muscle training

Conditions

Nemaline Myopathy; Inspiratory Muscle Training

Outcome Measures

Primary Outcomes (1)

• Change of maximal inspiratory pressure (cmH2O)

  Obtained with handheld device

  Baseline, after 8 weeks sham IMT, after 8 weeks active IMT

Secondary Outcomes (20)

• Change of diaphragm thickness (mm)

  Baseline, after 8 weeks sham IMT, after 8 weeks active IMT

• Change of diaphragm thickening (ratio)

  Baseline, after 8 weeks sham IMT, after 8 weeks active IMT

• Change of diaphragm excursion (cm)

  Baseline, after 8 weeks sham IMT, after 8 weeks active IMT

• Change of peak cough flow (L/s)

  Baseline, after 8 weeks sham IMT, after 8 weeks active IMT

• Change of forced vital capacity (% predicted)

  Baseline, after 8 weeks sham IMT, after 8 weeks active IMT

Study Arms (2)

Sham inspiratory muscle training

SHAM COMPARATOR

Commercially available threshold IMT trainers (Threshold IMT, Philips Respironics) for inspiration will be used. For sham IMT the valve will be removed, creating a low resistance. The participants will perform the sham IMT twice a day during 15 minutes for a period of 8 weeks.

Device: Threshold IMT, Philips Respironics, Murrysville, PA, USA

Active inspiratory muscle training

ACTIVE COMPARATOR

Commercially available threshold IMT trainers (Threshold IMT, Philips Respironics) for inspiration will be used. After the sham IMT, the participants will perform an active inspiratory muscle training during 8 weeks with the same training schedule. The resistance will gradually be increased in the first couple of weeks until the intended resistance (30% of MIP) is reached.

Device: Threshold IMT, Philips Respironics, Murrysville, PA, USA

Interventions

Threshold IMT, Philips Respironics, Murrysville, PA, USA DEVICE

Active inspiratory muscle training (IMT) by the threshold IMT provides consistent and specific pressure for inspiratory muscle strength and endurance training, regardless of how quickly or slowly patients breathe. This device incorporates a flow-independent one-way valve to ensure consistent resistance and features an adjustable specific pressure setting (in cmH20) to be set. When patients inhale through the Threshold IMT, a spring-loaded valve provides a resistance that exercises respiratory muscles through conditioning.

Active inspiratory muscle training; Sham inspiratory muscle training

Eligibility Criteria

• Age: 6 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• genetically-confirmed nemaline myopathy (mutations in one of the genes causing nemaline myopathy: TPM3, NEB, ACTA1, TPM2, TNNT1, KBTBD13, CFL2, KLHL40, KHLH41, LMOD3, MYPN, RYR1)
• informed consent from participant or legal representative
• age-range: between the age of 6-80 years

You may not qualify if:

• history of another condition that affects respiratory muscle strength or function (e.g. COPD)

Sponsors & Collaborators

• Radboud University Medical Center: lead

Study Sites (1)

Radboud university medical center

Nijmegen, Netherlands

Location

MeSH Terms

Conditions

Myopathies, Nemaline

Condition Hierarchy (Ancestors)

Myopathies, Structural, Congenital; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases

Study Officials

• Baziel van Engelen, Prof. PhD

  Promotor

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: SUPPORTIVE CARE
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: A controlled before-after trial of inspiratory muscle training will be performed in patients with nemaline myopathy with respiratory muscle weakness. The 2 sequentially tested conditions are sham IMT and active IMT. Patients are not blinded to the conditions, instead patients are instructed that two training methods are tested. First the effect of breathing technique with low resistance (sham IMT) and secondly with high resistance (active IMT).

Study Record Dates

• First Submitted: October 15, 2018
• First Posted: November 2, 2018
• Study Start: October 10, 2018
• Primary Completion: March 25, 2021
• Study Completion: March 25, 2021
• Last Updated: December 5, 2024

Record last verified: 2021-03

Locations

NL (1)