Are there abnormalities in hemostasis in patients with duchenne muscular dystrophy?

• Conditions: G71.0; D69.1; Muscular dystrophy; Qualitative platelet defects

• Registration Number: DRKS00011646
• Lead Sponsor: niversitätsklinikum Freiburg- Zentrum für Kinder- und JugendmedizinKlinik für Neuropädiatrie und Muskelerkrankungen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2017-02-08
• Study Completion: 2019-02-28
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: Male
• Target Recruitment: 53

Inclusion Criteria

RETROSPECTIVE PART

-registration in the DMD patient registry of the TREAT-NMD-network
PROSPECTIVE PART

-male patients, aged 6 and above
-assured DMD diagnosis, confirmed by genetic results or muscle biopsy
-written approval of the person having the custody of the child
-written approval of the patient as far as he is by age and stage of development able to understand the character, significance and bearing of the research project and is able to declare hereafter his intention
-sufficient ability for cooperation in echocardiographic examination (during routine examination)

Exclusion Criteria

RETROSPECTIVE PART:

-none
PROSPECTIVE PART:

-overweight with Body Mass Index > 30 body weight/m²
-anamnesis or any hint of an intracranial and/or malignant tumor
-known or persistent medical drug abuse, illegal drug abuse or alcohol abuse

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
RETROSPECTIVE PART:<br>Primary Outcome:<br>Documentation of clinically relevant thromboembolic events in patients registered in the DMD-Registry.<br><br>PROSPECTIVE PART:<br>Primary Outcome:<br>Comprehensive examination of platelet function in DMD-patients via exmination of <br>- vWF-Antigen<br>- vWF-Collagenbindingcapacity (vWF:CB)<br>- Multimer structural analysis<br>- aggregation of thrombocytes<br>- flow cytometry of thrombocytes

Secondary Outcome Measures

Name	Time	Method
RETROSPECTIVE PART:<br>Secondary Outcome:<br>Documentation of general medication and ambulatory status in DMD-patients. <br><br>PROSPECTIVE PART:<br>Secondary Outcome<br>Examination of<br>- Factor VIII-activity<br>- haemogramm<br>- D-Dimers<br>- Prothrombinfragments 1+2<br>- C-reactive Protein<br>- Markers of Thrombosis<br>Documentation of clinical course and medicaments<br>- Echocardiography (when planned in routine-visit). <br><br>