Inspiratory Muscle Training (IMT) in Adult People With Pompe Disease

NCT05951790 | Unknown DMC

• 1 other identifier: FDG_LOPD01
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this multicentre, randomized and controlled cross-over trial is to evaluate the efficacy of a programme of Inspiratory Muscle Training in subjects with Late On-set Pompe Disease (LOPD). The main question is to:

• verify changes in Forced Vital Capacity, Postural Drop, Maximal Inspiratory Pressure, Maximal Expiratory Pressure, Peak expiratory cough pressure, Maximal Inspiratory Capacity, six- minute walk test and or 6-minute pegboard ring test.-
• measure changes in some questionnaries investigating dispnoea and quality of life (Short-Form 36, Individualized-Neuromuscular-Quality-of-Life, Maugeri-Respiratory-Failure 28, Borg scale, Dispnoea 12, Mulditimensional Dispnea Profile, modified Medical Research Council, Fatigue Severity Scale, Epsworth Scale, Visual Analogue Scale). Measurement will take place at baseline and after one, three, four, six and twelve months. Participants will undergo a specific treatment consisting of aerobic exercise and Inspiratory Muscle Training with Powerbreathe device or Air-Stacking. Researchers will study if Powerbreathe device is more effective than Air-stacking maneuvres

Conditions

Glycogen Storage Disease Type II; Pompe Disease (Late-onset)

Keywords

Pompe Disease (Late-onset) (LOPD); Neuromuscular Disease (NMD); Inspiratory Muscle Training (IMT)

Outcome Measures

Primary Outcomes (3)

• Changes in Vital Capacity (VC) through different time-points

  Quantity of air moved inside and outside the respiratory system.

  From Baseline to first month, third, forfth, sixth and twelth month

• Variations in Postural Drop (PD) measured through different time-points

  Non supine Forced Vital Capacity (FVC)% - supine Forced Vital Capacity (FVC)%

  From Baseline to first month, third, forfth, sixth and twelth month

• Changes in Maximal Inspiratory Pressure (MIP) measured through different time-points

  Maximal negative inspiratory pressure created by the patient through 5 seconds, measured in cmH2O.

  From Baseline to first month, third, forfth, sixth and twelth month

Secondary Outcomes (5)

• Variations of the fitness level (6-MWT)

  From Baseline to first month, third, forfth, sixth and twelth month

• Variations of the fitness level (6-PBRT)

  From Baseline to first month, third, forfth, sixth and twelth month

• Changes in Quality of life (Maugeri-Respiratory-Failure 28)

  From Baseline to first month, third, forfth, sixth and twelth month

• Changes in Quality of life (Short Form-36)

  From Baseline to first month, third, forfth, sixth and twelth month

• Changes in Quality of life (Individualized-Neuromuscular-Quality-of-Life)

  From Baseline to first month, third, forfth, sixth and twelth month

Study Arms (2)

Inspiratory Muscle Training (IMT)

ACTIVE COMPARATOR

Use of Powerbreathe Device associated with aerobic excercise tailored for walking and non-walking subjects

Device: Inspiratory Muscle Training (IMT); Device: Inspiratory Muscle Training (IMT) + Air Stacking

Inspiratory Muscle Training (IMT) + Air Stacking

EXPERIMENTAL

Use of Powerbreathe Device and application of Air-Stacking maneuvres associated with aerobic excercise tailored for walking and non-walking subjects

Device: Inspiratory Muscle Training (IMT); Device: Inspiratory Muscle Training (IMT) + Air Stacking

Interventions

Inspiratory Muscle Training (IMT) DEVICE

Inspiratory muscle training (IMT) involves breathing exercises using a pressure threshold device to strengthen the muscles involved in breathing in

Inspiratory Muscle Training (IMT); Inspiratory Muscle Training (IMT) + Air Stacking

Inspiratory Muscle Training (IMT) + Air Stacking DEVICE

Inspiratory muscle training (IMT) involves breathing exercises using a pressure threshold device to strengthen the muscles involved in breathing in, along with Air Stacking (AS). AS is a lung insufflation method that requires the use of a manual insufflator to provide air volumes higher than inspiratory capacity

Inspiratory Muscle Training (IMT); Inspiratory Muscle Training (IMT) + Air Stacking

Eligibility Criteria

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

You may qualify if:

• Late On-set Pompe Disease diagnosis already in Enzyme Replacement Therapy (ERT) since 12 months
• Forced Vital Capacity \<80% predicted or Forced Vital Capacity \>80% but with Postural Drop \>25-30%

You may not qualify if:

• Severe Cardiologic or Respiratory comorbidities
• Complete dependence on ventilation

Sponsors & Collaborators

• Fondazione Don Carlo Gnocchi Onlus: lead
• Associazione Italiana Glicogenosi (AIG): collaborator
• Associazione Riabilitatori Insufficienza Respiratoria (ArIR): collaborator
• U.O.C. AO Ospedali Riuniti Villa Sofia-Cervello, Palermo: collaborator
• S.C. di Pneumologia Azienda Sanitaria Universitaria Integrata di Trieste: collaborator

Study Sites (1)

IRCCS S. Maria Nascente - Fondazione Don Carlo Gnocchi

Milan, 20146, Italy

RECRUITING

Related Publications (12)

• Ambrosino N, Confalonieri M, Crescimanno G, Vianello A, Vitacca M. The role of respiratory management of Pompe disease. Respir Med. 2013 Aug;107(8):1124-32. doi: 10.1016/j.rmed.2013.03.004. Epub 2013 Apr 12.

  PMID: 23587901 RESULT

• Iolascon G, Vitacca M, Carraro E, Chisari C, Fiore P, Messina S, Mongini TEG, Sansone VA, Toscano A, Siciliano G. The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence. Acta Myol. 2018 Dec 1;37(4):241-251. eCollection 2018 Dec.

  PMID: 30944902 RESULT

• Pellegrino GM, Corbo M, Di Marco F, Pompilio P, Dellaca R, Banfi P, Pellegrino R, Sferrazza Papa GF. Effects of Air Stacking on Dyspnea and Lung Function in Neuromuscular Diseases. Arch Phys Med Rehabil. 2021 Aug;102(8):1562-1567. doi: 10.1016/j.apmr.2021.01.092. Epub 2021 Mar 9.

  PMID: 33711277 RESULT

• Jevnikar M, Kodric M, Cantarutti F, Cifaldi R, Longo C, Della Porta R, Bembi B, Confalonieri M. Respiratory muscle training with enzyme replacement therapy improves muscle strength in late - onset Pompe disease. Mol Genet Metab Rep. 2015 Oct 29;5:67-71. doi: 10.1016/j.ymgmr.2015.09.007. eCollection 2015 Dec.

  PMID: 28649546 RESULT

• Jones HN, Crisp KD, Robey RR, Case LE, Kravitz RM, Kishnani PS. Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining. Mol Genet Metab. 2016 Feb;117(2):120-8. doi: 10.1016/j.ymgme.2015.09.003. Epub 2015 Sep 8.

  PMID: 26381077 RESULT

• Aslan GK, Huseyinsinoglu BE, Oflazer P, Gurses N, Kiyan E. Inspiratory Muscle Training in Late-Onset Pompe Disease: The Effects on Pulmonary Function Tests, Quality of Life, and Sleep Quality. Lung. 2016 Aug;194(4):555-61. doi: 10.1007/s00408-016-9881-4. Epub 2016 Apr 22.

  PMID: 27106274 RESULT

• Wenninger S, Greckl E, Babacic H, Stahl K, Schoser B. Safety and efficacy of short- and long-term inspiratory muscle training in late-onset Pompe disease (LOPD): a pilot study. J Neurol. 2019 Jan;266(1):133-147. doi: 10.1007/s00415-018-9112-4. Epub 2018 Nov 14.

  PMID: 30430231 RESULT

• Jones HN, Kuchibhatla M, Crisp KD, Hobson Webb LD, Case L, Batten MT, Marcus JA, Kravitz RM, Kishnani PS. Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): A protocol for a sham-controlled clinical trial. Mol Genet Metab. 2019 Aug;127(4):346-354. doi: 10.1016/j.ymgme.2019.05.001. Epub 2019 May 8.

  PMID: 31303277 RESULT

• Jones HN, Kuchibhatla M, Crisp KD, Hobson-Webb LD, Case L, Batten MT, Marcus JA, Kravitz RM, Kishnani PS. Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial. Neuromuscul Disord. 2020 Nov;30(11):904-914. doi: 10.1016/j.nmd.2020.09.023. Epub 2020 Sep 28.

  PMID: 33127291 RESULT

• Human A, Morrow BM. Inspiratory muscle training in children and adolescents living with neuromuscular diseases: A pre-experimental study. S Afr J Physiother. 2021 Aug 31;77(1):1577. doi: 10.4102/sajp.v77i1.1577. eCollection 2021.

  PMID: 34522820 RESULT

• Pick HJ, Faghy MA, Creswell G, Ashton D, Bolton CE, McKeever T, Lim WS, Bewick T. The feasibility and tolerability of using inspiratory muscle training with adults discharged from the hospital with community-acquired pneumonia. Adv Respir Med. 2021;89(2):216-220. doi: 10.5603/ARM.a2021.0002. Epub 2021 Apr 21.

  PMID: 33881155 RESULT

• McCool FD, Tzelepis GE. Inspiratory muscle training in the patient with neuromuscular disease. Phys Ther. 1995 Nov;75(11):1006-14. doi: 10.1093/ptj/75.11.1006.

  PMID: 7480122 RESULT

MeSH Terms

Conditions

Glycogen Storage Disease Type II; Neuromuscular Diseases

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Paolo Banfi, MD

  IRCCS Fondazione Don Carlo Gnocchi

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Elena Compalati, RT

CONTACT

3209727740; ecompalati@dongnocchi.it

Marta Lazzeri, RT

CONTACT

marta.lazzeri@ospedaleniguarda.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of the Cardio-Pulmonary Rehabilitation Unit

Study Record Dates

• First Submitted: February 16, 2023
• First Posted: July 19, 2023
• Study Start: March 1, 2023
• Primary Completion: June 1, 2023
• Study Completion: April 1, 2024
• Last Updated: July 19, 2023

Record last verified: 2023-07

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)