Myotonic Dystrophy Type 1 (DM1)BrainDMNCT03589677
Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life
An observational study of Myotonic Dystrophy Type 1 (DM1), run by IRCCS San Camillo, Venezia, Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 20 to 60 years
- Conditions the study is for
- Myotonic Dystrophy Type 1 (DM1)
- How many people
- 50 participants
- Where
- No sites listed yet
- Study dates
- 3 Jul 2012to 4 Jun 2015
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 20 to 60 years
- All sexes
- No healthy volunteers
- Adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
About this study
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.
Read the detailed description
Myotonic Dystrophy Type 1 (DM1), the most common form of muscular dystrophy in adulthood, is characterized by a multisystemic involvement in skeletal muscle (atrophy and progressive hyposthenia, predominantly in the distal districts, and myotonic phenomenon), and of the cardiac, ocular, endocrine, gastrointestinal and central nervous system (CNS) systems. The disease, of a genetic nature, is transmitted as an autosomal dominant trait and is due to an abnormal expansion of the CTG nucleotide triplet of the gene that encodes a kinase protein (DMPK), located on chromosome 19q13.3. Based on the expansion number of nucleotide triplets, 4 classes of expansion were identified: E1, E2, E3, E4, which are directly related to the severity of the phenotype. The pathogenetic basis of the disease is not yet clear to date; however, it is hypothesized that the mutation results in the expression of abnormal RNA transcripts that induce an alteration of the splicing mechanisms of different gene products. The disease frequently presents a typical profile of CNS disorders, characterized by a chronic and progressive pattern. The clinically identifiable symptomatology consists of cognitive disorders (visual-spatial, attention, executive functions), from alterations in the emotional sphere (depressed mood, anxiety and apathetic temperament) and from obsessive / avoiding / passive-aggressive personality traits. A difficulty in recognizing facial emotional states has also been reported. The overall intellectual performance tends to be at the lower limits of the norm when compared to the population of equal age and education. From the neuroradiological point of view, the presence of cortical atrophy, usually more evident in the frontal and temporal, and of white matter lesions spread on both hemispheres, often asymmetric, was detected. Despite the high number of studies on the subject, the frequency and localization of these abnormalities, as well as their relationship to cognitive involvement, the age of onset, duration of disease and genetic profile have not yet been clarified. In clinical practice, patients frequently present a partial impairment of insight, or the psychological ability to have a clear and complete awareness of their condition of illness, the incidence of which, however, has never been investigated. This disorder, also defined by the name of anosognosia, generates in the patient a partial admission of difficulties, which interferes with its adaptability to treatments and in the relationship with the caregiving figures. Lack of awareness about one's state of illness is a psychological condition found in various neurological diseases of an organic or neurodegenerative nature. The neuroanatomical and neuropsychological bases are complex and to date not fully known. The frontal lobes have been identified as possible neuroanatomical localizations of the disorder; however, data in the literature about the relationship between executive function deficits and anosognosia are extremely conflicting. In this patients, the rehabilitative intervention is useful for optimizing muscle tropism and prevents further atrophy of disused muscle fibers. MicroRNAs (miRNAs/miRs) miR-1, miR-206, miR-133a, and miR-133b are called "myomiRs" and are involved in myogenesis, muscle maintenance, and recovery and can be used as possible biomarkers to follow the effectiveness of rehabilitation treatment. There are currently no similar studies on patients with DM1.
- Conditions
- Myotonic Dystrophy Type 1 (DM1)
- Keywords
- DM1, Brain, MRI
- Medical subject headings
- Myotonic Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: Study of quality of life in DM1 patients. Estimated duration: about 15 months
Secondary outcomes (2)
Brain MRI neuroimaging in DM1 patients
Brain DM1 neuroimaging examination with MRI T1 sequences will be collected using 1.5 Tesla scanner and analyzed to verified the possible presence of structural brain alteration. T1 sequences will be used to evaluate cortical atrophy in DM1 patients.
Measured: Estimated duration: about 16 months.
Study of circulating myomiRNAs in DM1 patients before and after rehabilitation
New circulating molecular biomarkers, muscle specific-microRNAs (myomiRNAs), will be studied, before and after a period of 6 weeks of rehabilitation protocol, in blood of DM1 patients. MyomiRNAs could be used to evaluate the effect of physical rehabilitation since they appear to be linked to muscle atrophy. Rehabilitation protocol and methodologies have been published and validated by Cudia (Cudia et al.; 2016)
Measured: Estimated duration: about 16 months.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jul 2018
- Study start3 Jul 2012
- Primary completion4 Jun 2015
- Study completion4 Jun 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (21)Papers the sponsor has linked to this study.
- Other trials for Myotonic Dystrophy Type 1 (DM1)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (actual)
Sponsor and investigators
- Lead sponsor
- IRCCS San Camillo, Venezia, Italy
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, prof. Corrado Angelini, IRCCS San Camillo, Venezia, Italy
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03589677
- Sponsor's protocol ID
- IRCCSSanCamillo
- Acronym
- BrainDM
- Status last verified
- Jun 2018
- First submitted
- 10 May 2018
- Last updated
- 18 Jul 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 15489397Antonini 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.
PubMed 16702085Carlesimo 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.
PubMed 8954307Di 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.
PubMed 18337099Meola G, Sansone V. Cerebral involvement in myotonic dystrophies. Muscle Nerve. 2007 Sep;36(3):294-306. doi: 10.1002/mus.20800.
PubMed 17486579Minnerop 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.
PubMed 22131273Modoni 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.
PubMed 18821050Perini 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.
PubMed 10435210Ries 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.
PubMed 16102979Romeo 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.
PubMed 20221771Gambardella 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.
PubMed 20487562Salehi 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.
PubMed 17394397Salvatori 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.
PubMed 16193250Salvatori 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.
PubMed 19326042Schillings 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.
PubMed 17166763
Study at a glance
From the registry record, last updated by the sponsor on 18 Jul 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life
- ClinicalTrials.gov ID
- NCT03589677
- Acronym / sponsor ID
- BrainDM / IRCCSSanCamillo
- Conditions
- Myotonic Dystrophy Type 1 (DM1)
- Keywords
- DM1, Brain, MRI
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 50 participants (actual)
- Lead sponsor
- IRCCS San Camillo, Venezia, ItalyUniversity, hospital or other
- Study start
- 3 Jul 2012 (actual)
- Primary completion
- 4 Jun 2015 (actual)
- Study completion
- 4 Jun 2015 (actual)
- First posted
- 18 Jul 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Myotonic Dystrophy Type 1 (DM1), the most common form of muscular dystrophy in adulthood, is characterized by a multisystemic involvement in skeletal muscle (atrophy and progressive hyposthenia, predominantly in the distal districts, and myotonic phenomenon), and of the cardiac, ocular, endocrine, gastrointestinal and central nervous system (CNS) systems. The disease, of a genetic nature, is transmitted as an autosomal dominant trait and is due to an abnormal expansion of the CTG nucleotide triplet of the gene that encodes a kinase protein (DMPK), located on chromosome 19q13.3. Based on the expansion number of nucleotide triplets, 4 classes of expansion were identified: E1, E2, E3, E4, which are directly related to the severity of the phenotype. The pathogenetic basis of the disease is not yet clear to date; however, it is hypothesized that the mutation results in the expression of abnormal RNA transcripts that induce an alteration of the splicing mechanisms of different gene products. The disease frequently presents a typical profile of CNS disorders, characterized by a chronic and progressive pattern. The clinically identifiable symptomatology consists of cognitive disorders (visual-spatial, attention, executive functions), from alterations in the emotional sphere (depressed mood, anxiety and apathetic temperament) and from obsessive / avoiding / passive-aggressive personality traits. A difficulty in recognizing facial emotional states has also been reported. The overall intellectual performance tends to be at the lower limits of the norm when compared to the population of equal age and education. From the neuroradiological point of view, the presence of cortical atrophy, usually more evident in the frontal and temporal, and of white matter lesions spread on both hemispheres, often asymmetric, was detected. Despite the high number of studies on the subject, the frequency and localization of these abnormalities, as well as their relationship to cognitive involvement, the age of onset, duration of disease and genetic profile have not yet been clarified. In clinical practice, patients frequently present a partial impairment of insight, or the psychological ability to have a clear and complete awareness of their condition of illness, the incidence of which, however, has never been investigated. This disorder, also defined by the name of anosognosia, generates in the patient a partial admission of difficulties, which interferes with its adaptability to treatments and in the relationship with the caregiving figures. Lack of awareness about one's state of illness is a psychological condition found in various neurological diseases of an organic or neurodegenerative nature. The neuroanatomical and neuropsychological bases are complex and to date not fully known. The frontal lobes have been identified as possible neuroanatomical localizations of the disorder; however, data in the literature about the relationship between executive function deficits and anosognosia are extremely conflicting. In this patients, the rehabilitative intervention is useful for optimizing muscle tropism and prevents further atrophy of disused muscle fibers. MicroRNAs (miRNAs/miRs) miR-1, miR-206, miR-133a, and miR-133b are called "myomiRs" and are involved in myogenesis, muscle maintenance, and recovery and can be used as possible biomarkers to follow the effectiveness of rehabilitation treatment. There are currently no similar studies on patients with DM1.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 20 to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (6 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Study of quality of life with INQoL test in DM1 patients
Time frame: Study of quality of life in DM1 patients. Estimated duration: about 15 months
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)
2 secondary outcomes
Brain MRI neuroimaging in DM1 patients
Time frame: Estimated duration: about 16 months.
Study of circulating myomiRNAs in DM1 patients before and after rehabilitation
Time frame: Estimated duration: about 16 months.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jul 2018.
- Background: PubMed 15489397Antonini 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.
- Background: PubMed 16702085Antonini 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.
- Background: PubMed 8954307Carlesimo 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.
- Background: PubMed 18337099Di 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.
- Background: PubMed 17486579Meola G, Sansone V. Cerebral involvement in myotonic dystrophies. Muscle Nerve. 2007 Sep;36(3):294-306. doi: 10.1002/mus.20800.
- Background: PubMed 22131273Minnerop 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.
- Background: PubMed 18821050Modoni 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.
- Background: PubMed 10435210Perini 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.
- Background: PubMed 16102979Ries 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.
- Background: PubMed 20221771Romeo 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.
- Background: PubMed 20487562Gambardella 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.
- Background: PubMed 17394397Salehi 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Myotonic Dystrophy Type 1 (DM1), run by IRCCS San Camillo, Venezia, Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Jul 2018. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Study of quality of life with INQoL test in DM1 patients (time frame: Study of quality of life in DM1 patients. Estimated duration: about 15 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03589677, which also lists 21 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jul 2018.