Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life

NCT03589677 | Completed

• 1 other identifier: IRCCSSanCamillo
• Study Type: observational
• Target: 50
• Locations: 0 countries
• Sites: N/A

Brief Summary

This project aims to characterize DM1 patients, by collecting clinical, neuropsychological, neuroimaging, and molecular rehabilitative data, in order to elucidate the etiology of cognitive troubles, with special attention to the impact of those dysfunctions on quality of life.

Conditions

Myotonic Dystrophy Type 1 (DM1)

Keywords

DM1; Brain; MRI

Outcome Measures

Primary Outcomes (1)

• Study of quality of life with INQoL test in DM1 patients

  The Individualized Neuromuscular Quality of Life Questionnaire (INQoL) patients and caregivers' score will be used for define the possible impact of the pathology on the patient's quality of life. Will be used the INQoL Italian version validated in 2010 (Sansone et al. 2010)

  Study of quality of life in DM1 patients. Estimated duration: about 15 months

Secondary Outcomes (2)

• Brain MRI neuroimaging in DM1 patients

  Estimated duration: about 16 months.

• Study of circulating myomiRNAs in DM1 patients before and after rehabilitation

  Estimated duration: about 16 months.

Study Arms (1)

Myotonic dystrophy type 1

Subjects of both sexes with a diagnosis of Steinert's disease (DM1), de novo or with the previous diagnosis that shows significant worsening detectable during the follow-up foreseen by the normal cure procedure with clinical presentation indicating a CNS compromise will be evaluated for: * quality of life evaluation * exam of neuroimaging * study of myomiRNAs before and after rehabilitation

Eligibility Criteria

• Age: 20 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

DM1 subjects of both sexes: de novo or with previous diagnosis that show significant worsening detectable during the follow-up foreseen by the normal cure procedure with clinical presentation indicating a CNS compromise. DM1 is frequently characterized by a significant involvement of the CNS, causing cognitive disorders, mood and behavior, varying from case to case.

You may qualify if:

• Age between 20 and 60 years;
• Presence of cognitive disorders declared by the patient or family members spontaneously or at the specific request of the physician, not to compromise the ability to understand and adhere to what is required by the study protocol;
• Suspected leukoencephalopathy;
• Signing of written informed consent.

You may not qualify if:

• clinical picture mainly referring to other neurological diseases (eg dementia, stroke outcomes, etc ...)
• incompatibility with the eligibility criteria: subjects with DM1 who do not show symptoms of involvement of the central nervous system; subjects with previous diagnosis.
• impossibility to perform magnetic resonance examinations as they are dangerous for the patient's health;
• patients with severe psychiatric disorders: Axis 1 or 2 of Diagnostic and Statistical Manual of Mental Disorders (DSM IV);
• patients with severe or severe mental retardation: Intelligence Quotient (IQ) at the Wechsler Adult Intelligence Scale (WAIS) \<of 45.
• Abuse of alcohol or other psychoactive substances.

Sponsors & Collaborators

• IRCCS San Camillo, Venezia, Italy: lead

Related Publications (21)

• Antonini G, Mainero C, Romano A, Giubilei F, Ceschin V, Gragnani F, Morino S, Fiorelli M, Soscia F, Di Pasquale A, Caramia F. Cerebral atrophy in myotonic dystrophy: a voxel based morphometric study. J Neurol Neurosurg Psychiatry. 2004 Nov;75(11):1611-3. doi: 10.1136/jnnp.2003.032417.

  PMID: 15489397 BACKGROUND

• Antonini G, Soscia F, Giubilei F, De Carolis A, Gragnani F, Morino S, Ruberto A, Tatarelli R. Health-related quality of life in myotonic dystrophy type 1 and its relationship with cognitive and emotional functioning. J Rehabil Med. 2006 May;38(3):181-5. doi: 10.1080/16501970500477967.

  PMID: 16702085 BACKGROUND

• Carlesimo GA, Caltagirone C, Gainotti G. The Mental Deterioration Battery: normative data, diagnostic reliability and qualitative analyses of cognitive impairment. The Group for the Standardization of the Mental Deterioration Battery. Eur Neurol. 1996;36(6):378-84. doi: 10.1159/000117297.

  PMID: 8954307 BACKGROUND

• Di Costanzo A, Santoro L, de Cristofaro M, Manganelli F, Di Salle F, Tedeschi G. Familial aggregation of white matter lesions in myotonic dystrophy type 1. Neuromuscul Disord. 2008 Apr;18(4):299-305. doi: 10.1016/j.nmd.2008.01.008. Epub 2008 Mar 11.

  PMID: 18337099 BACKGROUND

• Meola G, Sansone V. Cerebral involvement in myotonic dystrophies. Muscle Nerve. 2007 Sep;36(3):294-306. doi: 10.1002/mus.20800.

  PMID: 17486579 BACKGROUND

• Minnerop M, Weber B, Schoene-Bake JC, Roeske S, Mirbach S, Anspach C, Schneider-Gold C, Betz RC, Helmstaedter C, Tittgemeyer M, Klockgether T, Kornblum C. The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease. Brain. 2011 Dec;134(Pt 12):3530-46. doi: 10.1093/brain/awr299. Epub 2011 Nov 29.

  PMID: 22131273 BACKGROUND

• Modoni A, Silvestri G, Vita MG, Quaranta D, Tonali PA, Marra C. Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study. J Neurol. 2008 Nov;255(11):1737-42. doi: 10.1007/s00415-008-0017-5. Epub 2008 Sep 24.

  PMID: 18821050 BACKGROUND

• Perini GI, Menegazzo E, Ermani M, Zara M, Gemma A, Ferruzza E, Gennarelli M, Angelini C. Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients. Biol Psychiatry. 1999 Aug 1;46(3):425-31. doi: 10.1016/s0006-3223(99)00016-5.

  PMID: 10435210 BACKGROUND

• Ries ML, Schmitz TW, Kawahara TN, Torgerson BM, Trivedi MA, Johnson SC. Task-dependent posterior cingulate activation in mild cognitive impairment. Neuroimage. 2006 Jan 15;29(2):485-92. doi: 10.1016/j.neuroimage.2005.07.030. Epub 2005 Aug 15.

  PMID: 16102979 BACKGROUND

• Romeo V, Pegoraro E, Ferrati C, Squarzanti F, Soraru G, Palmieri A, Zucchetta P, Antunovic L, Bonifazi E, Novelli G, Trevisan CP, Ermani M, Manara R, Angelini C. Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2. J Neurol. 2010 Aug;257(8):1246-55. doi: 10.1007/s00415-010-5498-3. Epub 2010 Mar 11.

  PMID: 20221771 BACKGROUND

• Gambardella S, Rinaldi F, Lepore SM, Viola A, Loro E, Angelini C, Vergani L, Novelli G, Botta A. Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients. J Transl Med. 2010 May 20;8:48. doi: 10.1186/1479-5876-8-48.

  PMID: 20487562 BACKGROUND

• Salehi LB, Bonifazi E, Stasio ED, Gennarelli M, Botta A, Vallo L, Iraci R, Massa R, Antonini G, Angelini C, Novelli G. Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients. Genet Test. 2007 Spring;11(1):84-90. doi: 10.1089/gte.2006.0511.

  PMID: 17394397 BACKGROUND

• Salvatori S, Fanin M, Trevisan CP, Furlan S, Reddy S, Nagy JI, Angelini C. Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. Neurol Sci. 2005 Oct;26(4):235-42. doi: 10.1007/s10072-005-0466-x.

  PMID: 16193250 BACKGROUND

• Salvatori S, Furlan S, Fanin M, Picard A, Pastorello E, Romeo V, Trevisan CP, Angelini C. Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2). Neurol Sci. 2009 Jun;30(3):185-92. doi: 10.1007/s10072-009-0048-4. Epub 2009 Mar 27.

  PMID: 19326042 BACKGROUND

• Schillings ML, Kalkman JS, Janssen HM, van Engelen BG, Bleijenberg G, Zwarts MJ. Experienced and physiological fatigue in neuromuscular disorders. Clin Neurophysiol. 2007 Feb;118(2):292-300. doi: 10.1016/j.clinph.2006.10.018. Epub 2006 Dec 12.

  PMID: 17166763 BACKGROUND

• Sistiaga A, Urreta I, Jodar M, Cobo AM, Emparanza J, Otaegui D, Poza JJ, Merino JJ, Imaz H, Marti-Masso JF, Lopez de Munain A. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1. Psychol Med. 2010 Mar;40(3):487-95. doi: 10.1017/S0033291709990602. Epub 2009 Jul 23.

  PMID: 19627641 BACKGROUND

• Winblad S, Lindberg C, Hansen S. Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1). Behav Brain Funct. 2006 May 15;2:16. doi: 10.1186/1744-9081-2-16.

  PMID: 16696870 BACKGROUND

• Winblad S, Hellstrom P, Lindberg C, Hansen S. Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion. J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):219-23. doi: 10.1136/jnnp.2005.070763.

  PMID: 16421126 BACKGROUND

• Winblad S, Jensen C, Mansson JE, Samuelsson L, Lindberg C. Depression in Myotonic Dystrophy type 1: clinical and neuronal correlates. Behav Brain Funct. 2010 May 19;6:25. doi: 10.1186/1744-9081-6-25.

  PMID: 20482818 BACKGROUND

• Sansone VA, Panzeri M, Montanari M, Apolone G, Gandossini S, Rose MR, Politano L, Solimene C, Siciliano G, Volpi L, Angelini C, Palmieri A, Toscano A, Musumeci O, Mongini T, Vercelli L, Massa R, Panico MB, Grandi M, Meola G. Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases. Eur J Neurol. 2010 Sep;17(9):1178-1187. doi: 10.1111/j.1468-1331.2010.02992.x. Epub 2010 Mar 30.

  PMID: 20374278 BACKGROUND

• Cudia P, Weis L, Baba A, Kiper P, Marcante A, Rossi S, Angelini C, Piccione F. Effects of Functional Electrical Stimulation Lower Extremity Training in Myotonic Dystrophy Type I: A Pilot Controlled Study. Am J Phys Med Rehabil. 2016 Nov;95(11):809-817. doi: 10.1097/PHM.0000000000000497.

  PMID: 27088471 BACKGROUND

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: professor, M.D.

Study Record Dates

• First Submitted: May 10, 2018
• First Posted: July 18, 2018
• Study Start: July 3, 2012
• Primary Completion: June 4, 2015
• Study Completion: June 4, 2015
• Last Updated: July 18, 2018

Record last verified: 2018-06

Data Sharing

• IPD Sharing: Will not share