Biomarkers in Kennedy Disease The identification of biomarkers as clinical endpoints in drug efficacy trials in Kennedy disease; an international academic multicenter study in Utrecht and Leuven

Completed

• Conditions: Kennedy Disease; Spinal bulbar muscular atrophy; 10083624; 10014701; 10029317

• Registration Number: NL-OMON32727
• Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 50

Inclusion Criteria

1) genetically confirmed KD in patients with more than one of the following symptoms,: muscle weakness, muscle atrophy, bulbar palsy, fasciculations, tremor or mild sensory symptoms
2) male
3) Androgen receptor gene with a CAG repeat exceeding 38 copies
4) age >18 years
5) given written informed consent

Exclusion Criteria

1) Androgen receptor gene with CAG repeat of less than 38 repeats
2) female carriers
3) <18 years of age

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main study parameters of this study are the correlations between possible<br /><br>biomarkers and the disease progression in patients. Disease status and<br /><br>progression will be measured with the ALS-FRS-R, Norris scale and ShortForm-36.<br /><br>Possible biomarkers are the manual muscle testing, 6minute-walking-test,<br /><br>circumference of limbs, bloodtesten (transaminases, creatine kinase, glucose,<br /><br>HbA1c, prolactine, testosterone, luteinizing hormone, follicle stimulating<br /><br>hormone and sex-hormone-binding-globuline) and genomic profiling of mRNA. With<br /><br>the discovery of (a) new biomarker(s) the sample size calculation for drug<br /><br>efficacy trials in KD can be made.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>NA</p><br>