Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease

NCT04786522 | Completed

• 1 other identifier: Iri-mCMT
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

Irisin is an exercise-mimetic myokine secreted by skeletal muscle. Compelling evidence in animal models and humans showed that Irisin prevents onset of musculoskeletal atrophy and its low serum levels are predictive of sarcopenia. The investigators evaluated the levels of irisin in patients affected by an hereditary motor and sensory neuropathy, namely Charcot-Marie-Tooth disease (CMT), in order to investigate possible key determinants of their muscle quality and possibly prevent the progressive distal weakness and muscle atrophy.

Conditions

Charcot-Marie-Tooth Disease

Keywords

bioimpedance analysis; handgrip strength; body composition

Outcome Measures

Primary Outcomes (5)

• Irisin level assessment

  Irisin levels in the blood at enrollment

  At enrollment

• muscle mass assessment

  Muscle mass determined by bioelectrical impedance analysis

  At enrollment

• muscle strenght assessment

  Muscle strenght by handgrip dynamometer

  At enrollment

• muscle quality assessment

  Muscle quality determined by bioelectrical impedance analysis

  At enrollment

• Correlation between irisin levels and muscle mass, muscle strenght, and muscle quality

  Correlation determined by Pearson's correlation for linear regression analysis

  Immediately after enrollment

Interventions

Bioimpedenziometry, Handgrip strenght evaluation DIAGNOSTIC_TEST

The measurement of body composition was performed using Bioimpedance (BIA 101, Akern srl, Pontassieve (FI), Italy). The handgrip dynamometer (Jamar, Sammons Preston, Bolingbrook, IL, USA) was used to determine the isometric force of the forearm.

Evaluation on blood specimens DIAGNOSTIC_TEST

Serum samples were assayed for calcium, phosphorus, magnesium, iron, lactate dehydrogenase (Ldh), creatine phosphokinase (Cpk), creatine kinase myocardial band (Ckmmb), myoglobin, thyroid stimulating hormone (TSH), 25(OH)-Vitamin D, osteocalcin, bone alkaline phosphatase (b-ALP), C-terminal telopeptide of type I collagen (CTX-I), haptoglobin, sclerostin, myostatin, and Irisin. Irisin serum concentrations were detected using a competitive ELISA kit (AdipoGen, Liestal, Switzerland)

Eligibility Criteria

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

Study Population

All patients with Charcot-Marie-Tooth disease who have given informed consent

You may qualify if:

• Definitive diagnosis of Charcot-Marie-Tooth disease

You may not qualify if:

• osteoporosis
• intestinal malabsorption
• chronic inflammatory diseases
• chronic renal failure
• severe heart failure
• neoplastic diseases

Sponsors & Collaborators

• University of Bari: lead

Study Sites (1)

Policlinic Hospital

Bari, 70124, Italy

Location

Related Publications (17)

• Grandis M, Shy ME. Current Therapy for Charcot-Marie-Tooth Disease. Curr Treat Options Neurol. 2005 Jan;7(1):23-31. doi: 10.1007/s11940-005-0003-5.

  PMID: 15610704 RESULT

• Mann DC, Hsu JD. Triple arthrodesis in the treatment of fixed cavovarus deformity in adolescent patients with Charcot-Marie-Tooth disease. Foot Ankle. 1992 Jan;13(1):1-6. doi: 10.1177/107110079201300101.

  PMID: 1577335 RESULT

• Guyton GP, Mann RA. The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease. Foot Ankle Clin. 2000 Jun;5(2):317-26.

  PMID: 11232233 RESULT

• Corrado B, Ciardi G, Bargigli C. Rehabilitation Management of the Charcot-Marie-Tooth Syndrome: A Systematic Review of the Literature. Medicine (Baltimore). 2016 Apr;95(17):e3278. doi: 10.1097/MD.0000000000003278.

  PMID: 27124017 RESULT

• Garber CE, Blissmer B, Deschenes MR, Franklin BA, Lamonte MJ, Lee IM, Nieman DC, Swain DP; American College of Sports Medicine. American College of Sports Medicine position stand. Quantity and quality of exercise for developing and maintaining cardiorespiratory, musculoskeletal, and neuromotor fitness in apparently healthy adults: guidance for prescribing exercise. Med Sci Sports Exerc. 2011 Jul;43(7):1334-59. doi: 10.1249/MSS.0b013e318213fefb.

  PMID: 21694556 RESULT

• Ma J, Chen K. The role of Irisin in multiorgan protection. Mol Biol Rep. 2021 Jan;48(1):763-772. doi: 10.1007/s11033-020-06067-1. Epub 2021 Jan 3.

  PMID: 33389537 RESULT

• Maak S, Norheim F, Drevon CA, Erickson HP. Progress and Challenges in the Biology of FNDC5 and Irisin. Endocr Rev. 2021 Jul 16;42(4):436-456. doi: 10.1210/endrev/bnab003.

  PMID: 33493316 RESULT

• Colaianni G, Storlino G, Sanesi L, Colucci S, Grano M. Myokines and Osteokines in the Pathogenesis of Muscle and Bone Diseases. Curr Osteoporos Rep. 2020 Aug;18(4):401-407. doi: 10.1007/s11914-020-00600-8.

  PMID: 32514668 RESULT

• Colaianni G, Notarnicola A, Sanesi L, Brunetti G, Lippo L, Celi M, Moretti L, Pesce V, Vicenti G, Moretti B, Colucci S, Grano M. Irisin levels correlate with bone mineral density in soccer players. J Biol Regul Homeost Agents. 2017 Oct-Dec,;31(4 suppl 1):21-28.

  PMID: 29181953 RESULT

• Colaianni G, Faienza MF, Sanesi L, Brunetti G, Pignataro P, Lippo L, Bortolotti S, Storlino G, Piacente L, D'Amato G, Colucci S, Grano M. Irisin serum levels are positively correlated with bone mineral status in a population of healthy children. Pediatr Res. 2019 Mar;85(4):484-488. doi: 10.1038/s41390-019-0278-y. Epub 2019 Jan 15.

  PMID: 30683930 RESULT

• Faienza MF, Brunetti G, Sanesi L, Colaianni G, Celi M, Piacente L, D'Amato G, Schipani E, Colucci S, Grano M. High irisin levels are associated with better glycemic control and bone health in children with Type 1 diabetes. Diabetes Res Clin Pract. 2018 Jul;141:10-17. doi: 10.1016/j.diabres.2018.03.046. Epub 2018 Apr 19.

  PMID: 29679630 RESULT

• Palermo A, Sanesi L, Colaianni G, Tabacco G, Naciu AM, Cesareo R, Pedone C, Lelli D, Brunetti G, Mori G, Colucci S, Manfrini S, Napoli N, Grano M. A Novel Interplay Between Irisin and PTH: From Basic Studies to Clinical Evidence in Hyperparathyroidism. J Clin Endocrinol Metab. 2019 Aug 1;104(8):3088-3096. doi: 10.1210/jc.2018-02216.

  PMID: 30759249 RESULT

• Colaianni G, Errede M, Sanesi L, Notarnicola A, Celi M, Zerlotin R, Storlino G, Pignataro P, Oranger A, Pesce V, Tarantino U, Moretti B, Grano M. Irisin Correlates Positively With BMD in a Cohort of Older Adult Patients and Downregulates the Senescent Marker p21 in Osteoblasts. J Bone Miner Res. 2021 Feb;36(2):305-314. doi: 10.1002/jbmr.4192. Epub 2020 Oct 29.

  PMID: 33053231 RESULT

• Chang JS, Kim TH, Nguyen TT, Park KS, Kim N, Kong ID. Circulating irisin levels as a predictive biomarker for sarcopenia: A cross-sectional community-based study. Geriatr Gerontol Int. 2017 Nov;17(11):2266-2273. doi: 10.1111/ggi.13030. Epub 2017 Apr 10.

  PMID: 28394089 RESULT

• Budziareck MB, Pureza Duarte RR, Barbosa-Silva MC. Reference values and determinants for handgrip strength in healthy subjects. Clin Nutr. 2008 Jun;27(3):357-62. doi: 10.1016/j.clnu.2008.03.008. Epub 2008 May 2.

  PMID: 18455840 RESULT

• Kim HJ, So B, Choi M, Kang D, Song W. Resistance exercise training increases the expression of irisin concomitant with improvement of muscle function in aging mice and humans. Exp Gerontol. 2015 Oct;70:11-7. doi: 10.1016/j.exger.2015.07.006. Epub 2015 Jul 13.

  PMID: 26183690 RESULT

• Colaianni G, Oranger A, Dicarlo M, Lovero R, Storlino G, Pignataro P, Fontana A, Di Serio F, Ingravallo A, Caputo G, Di Leo A, Barone M, Grano M. Irisin Serum Levels and Skeletal Muscle Assessment in a Cohort of Charcot-Marie-Tooth Patients. Front Endocrinol (Lausanne). 2022 May 12;13:886243. doi: 10.3389/fendo.2022.886243. eCollection 2022.

  PMID: 35634506 DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood samples

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Michele Barone, prof.

  University of Bari

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CROSSOVER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: March 1, 2021
• First Posted: March 8, 2021
• Study Start: November 2, 2019
• Primary Completion: October 31, 2020
• Study Completion: December 30, 2020
• Last Updated: March 10, 2021

Record last verified: 2021-03

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)