NCT02263781|Unknown
PREPL in Health and Disease
PHD
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PHD
Sponsor study identifier
interventional
125
1 country
1
Study Start
October 2014
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
January 2025
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
January 2025
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
January 2025
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
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Some registry-reported names shown below are not yet linked in this graph.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
October 2014
Date type not reportedThis date has not been verified as actual or estimated.
October 1, 2014
Actual (reported)October 13, 2014
Actual (reported)January 2025
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
January 2025
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
PREPL activity (ng active PREPL/g protein) normal values in blood
normal values for PREPL activity
3 months
PREPL activity in patients with Prader Willi syndrome compared to activity in normal controls
Comparison of PREPL activity in blood and muscle between above mentioned groups
3 months
PREPL activity in patients with primary PREPL deficiency compared to activity in normal controls
Comparison of PREPL activity in blood between above mentioned groups
3 months
Patients on routine postinfectious control, blood draw
Patients with primary PREPL deficiency, blood draw
Patients with Prader-Willi syndrome, blood draw
Blood draw
UZLeuven
Leuven, 3000, Belgium
Regal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG. PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7.
Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. Am J Hum Genet. 2006 Jan;78(1):38-51. doi: 10.1086/498852. Epub 2005 Nov 23.
Luc Régal, MD
KU Leuven
First Submitted
October 1, 2014
First Posted
October 13, 2014
Study Start
October 2014
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
January 2025
Estimated (date passed)PREPL activity in patients with muscle weakness/obesity/growth hormone deficiency compared to activity in normal controls
3 months
Patients with symptoms overlapping with primary PREPL deficiency (like hypotonia, growth hormone deficiency, obesity), blood draw
Patients without hypotonia, growth hormone deficiency, obesity, undergoing elective surgery, muscle biopsy from the surgical site and blood draw
Patients with Prader-Willi syndrome undergoing elective anesthesia or surgery, muscle biopsy (from surgical site if applicable) and blood draw
Muscle biopsy during planned anesthesia/surgery
Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.
Contact the study team to confirm eligibility.
This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
January 2025
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Last Updated
July 16, 2024
Record last verified: 2024-07
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Source: ClinicalTrials.gov.
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