Myotonic Dystrophy in Czech Republic: Data from the National

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Myotonic Dystrophy in Czech Republic: Data from the National
Myotonic Dystrophy in Czech Republic: Data from the National Registry
Stanislav Voháňkaa,b, Olesja Parmováa , Radim Mazanecc, Jana Strenkovád, Petr Ridzoňe, Edvard Ehlerf, Alexandr Vávraf,
Martin Forgáčg, Jana Junkerováh, Tomáš Božovskýi, Pavel Kuncj
aUniversity
Hospital and Medical Faculty Masaryk University Brno, bCentral European Institute of Technology, CEITEC MU, Masaryk University, Brno, cUniversity Hospital Prague- Motol and Medical Faculty Charles University,
Prague, dInstitute of Biostatistics and Analyses, Masaryk University, Brno, eThomayer Hospital Prague, fRegional Hospital Pardubice, Faculty of Health Care Studies, University Pardubice, gGeneral University Hospital and
Medical Faculty Charles University, Prague, hUniversity Hospital Ostrava, iUniversity Hospital Pilsen, jUniversity Hospital Hradec Králové
Background and objectives. Myotonic dystrophy is the most common form of muscular dystrophy that begins predominantly in
adulthood. The prevalence of the two types varies among different geographic and ethnic populations. Patient registries represent
key instruments by pooling data for clinical research, epidemiological assessment, and observational studies in rare diseases.
Patients and Methods. The Czech National Registry of Myotonic Disorders was established in 2011 and up to August 2015 393
patients from 8 centres have been included.
Technological remarks
The technological aspect of the project, the data collection, storage and backup and their analysis are provided by the Institute of Biostatistics and Analyses, Masaryk University, Brno, CR. On-line data collection is based on a TRIALDB system developed on Yale University, Connecticut, USA, which is widely used for
this purpose. So it is not necessary to install any additional computer software. The database can be accessed only by authorized persons using their login and password. For each patient is generated a unique ID; all data transfer is encrypted and the system is designed to prevent their unauthorized use during data transfer.
Laws and regulations in CR require having an informed consent from all patients whose data are used in the registry. All claims for personal data protection were met. Data are stored on the central server on Masaryk University in Brno in Oracle 9i database.
Other (user-friendly) functions
Total
(N=348)
• Database users are allowed to print the submitted patient forms
Descriptive statistics
• Selected data are on-line exported to the web pages of the ReaDy (ready.registry.cz)
Myotonic dystrophy
- age of onset
(N=265)
Motor function (N=330)
Ambulatory
- unassisted
Ambulatory
- assisted
Non -ambulatory
Able to walk (N=329)
Wheelchair use
(N=330)
Full -time
Part -time
No
6 -minute walk test (m)
(N=140)
Myotonia (N=316)
None
Mild
Severe
MRC (N=182)
Heart condition (N=299)
Arrhythmia
Cardiomyopathy
Yes , no further specified
No
Unknown
A ge – heart condition (N=49)
PR interval (N=101)
QRS interval (N=99)
ECG (N=275)
Dysphagia (N=305)
FVC (N=161)
Creatine kinase (N=264)
- continuous
Normal (men? 2.9;
women? 2 .3)
Abnormal
Myoglobin (N=237)
- continuous
Normal (men
? 72 ; women ? 58)
Abnorm al
Cataract (N=321)
Fatigue (N=313)
None
Mild
Severe
FUP (month)
(N=231)
• Each patients can see her/his own data after secure individual authentication
• The battery of questionnaires are available, partially for self-evaluation of patients
• Documents repository for patients and physicians
• Helpdesk
DM1 vs. DM2
1
2
DM1
(N=141)
35.0 (12.0 -60.0)
25.0 (10.0
299 (90.6%)
27 (8.2%)
4 (1.2%)
315 (95.7%)
DM2
(N=207)
-54.0)
119 (90.2%)
10 (7.6%)
3 (2.3%)
122 (93.1%)
40.0 (17.0
p
-62.0)
<0.001
180 (90.9%)
17 (8.6%)
1 (0.5%)
193 (97.4%)
0.410
DM1 vs. DM2
0.091
4 (1.2%)
5 (1.5%)
321 (97.3%)
400.5 (100.0 -720.0)
3 (2.3%)
3 (2.3%)
126 (95.5%)
400.0 (90.0 -800.0)
1 (0.5%)
2 (1%)
195 (98.5%)
425.0 (100.0 -700.0)
89 (28.2%)
170 (53.8%)
57 (18%)
155.0 (106.8 -170.0)
16 (12.7%)
66 (52.4%)
44 (34.9%)
150.8 (101.8 -170.0)
73 (38.4%)
104 (54.7%)
13 (6.8%)
157.3 (106.8 -170.0)
0.280
DM1 age of onset (y)
0.108
60
max 54
<0.001
50
0.032
40
34 (11.4%)
8 (2.7%)
22 (7.4%)
189 (63.2%)
46 (15.4%)
45.0 (20.0 -71.0)
158.0 (0.2 -200.0)
80.0 (0.1 -160.0)
156 (52.4%)
36 (11.8%)
89.0 (32.0 -114.0)
3.9 (1.3 -17.7)
55 (20.8%)
209 (79.2%)
84.8 (31.0 -235.3)
62 (26.2%)
175 (73.8%)
95 (29.6%)
22 (18.8%)
4 (3.4%)
12 (10.3%)
58 (49.6%)
21 (17.9%)
40.5 (20.0 -57.0)
155.0 (0.2 -236.0)
80.0 (0.1 -170.0)
65 (60.2%)
22 (18.5%)
79.0 (29.0 -103.0)
3.6 (1.1 -11.9)
24 (24.5%)
74 (75.5%)
93.1 (37.2 -249.4)
16 (18.4%)
71 (81.6%)
32 (25.4%)
12 (6.6%)
4 (2.2%)
10 (5.5%)
131 (72%)
25 (13.7%)
55.0 (13.0 -2 012.0)
158.0 (0.2 -200.0)
80.0 (0.1 - 120.0)
79 (47.3%)
14 (7.5%)
92.8 (55.0 -123.0)
4.0 (1.3 -20.1)
31 (18.7%)
135 (81.3%)
79.8 (31.0 -229.7)
46 (30.7%)
104 (69.3%)
63 (32.3%)
148 (47.3%)
138 (44.1%)
27 (8.6%)
16.0 (0.0 -121.0)
40 (32.8%)
64 (52.5%)
18 (14.8%)
19.5 (0.0 -162.0)
108 (56.5%)
74 (38.7%)
9 (4.7%)
16.0 (0.0 - 101.0)
30
0.001
mean 25
20
10
0.001
0.967
0.719
0.126
<0.001
<0.001
0.344
DM2 age of onset (y)
0.275
70
0.185
60
0.046
min 4
0
max 62
50
0.388
mean 40
40
th
described by absolute and relative frequencies for categorical and median (5
- 95
Fisher exact test for categorical and Mann
- Whitney U test for continuous variables
th
<0.001
0.155
perc.) for continuous variables
30
min 17
20
10
0
Myotonia (DM1, DM2)
Results
236 (60%) patients are suffering from myotonic dystrophy type 2 (DM2) and 157 (40%) from myotonic dystrophy type 1 (DM1),
248 females (63%) and 145 males (37%).
Mean age in the time of the registry entering is 45 years, approximately 10 years after disease manifestation which was in patient
with DM1 25 (10- 54) years and in persons with DM2 40 (17-62) years.
Nearly all patients with both forms are ambulatory (assisted or unassisted).
Only 4 patients are wheelchair bound (three with DM1).
We could not found the difference between both types in 6 min. walking test and motor functions expressed as summary of MRC
score. The presence of cataracts was also similar in both groups. Patients suffering from MD1 have had more severe myotonia,
heart problems (esp. arrhythmias), dysphagia, and fatigue (p<0.001, Fisher exact test for categorical and Mann-Whitney U test for
continuous variables).
The mean follow-up time in the registry is 16 months.
(Some pictures and data are based on the last update August 31, 2015)
None
60%
50%
40%
30%
20%
10%
0%
Severe
Mild
DM1
DM2
Walking ability (DM1, DM2)
100%
90%
80%
70%
60%
50%
40%
Annual recruitment rate
Recruitment rate since launching
Contributions of the neuromuscular centres
30%
20%
10%
0%
Brno
Ambulatory ‐ unassisted
Ambulatory ‐ assisted
Non‐ambulatory
Prague Motol
Prague Thomayer
Age at onset (DM1, DM2)
Ostrava
Prague General
Pardubice
Pilsen
Hradec Kralove
0
20
40
60
80
100
120
140
160
180
Conclusion
In Czech population (Middle Europe, 10.5 mil. inhabitants) is more frequent DM2 than DM1
Patients with DM1 are younger and more compromised than patients with DM2
DM2 is the most frequent muscular dystrophy among adult patients in Czech Republic
Acknowledgement
The registry is the common work of all Czech neuromuscular centres, molecular biology laboratories (Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Institute of Biology and Medical Genetics Prague-Motol), and Institute of Biostatistics and Analyses (Masaryk
University Brno).
References
1) Brabec P, Vondráček P, Klimes D, Baumeister S, Lochmüller H, Pavlík T, et al. Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach. Neuromuscul. Disord. 2009; 19: 250–254.
2) Sárközy A, Bushby K, Béroud C, Lochmüller H. 157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands. Neuromuscul. Disord. 2008; 18: 997–1001.
3) Thompson R, Schoser B, Monckton DG, Blonsky K, Lochmüller H. Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report. Neuromuscul. Disord. 2009; 19: 860–866.
Stanislav Voháňka, Neuromuscular Centre, Department of Neurology,
University Hospital Brno
[email protected], www.fnbrno.cz, www. neuromuskularni-sekce.cz
www.ready.registry.cz

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