Hypotonia-Cystinuria SyndromePHDNCT02263781
PREPL in Health and Disease
A study testing Blood draw and muscle biopsy in people with Hypotonia-Cystinuria Syndrome and Muscle Hypotonia, run by Universitaire Ziekenhuizen KU Leuven at 1 site in Belgium.
Trial summary
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients Read more about this study
- Who is it for?
- Ages Up to 40 yearsHealthy volunteers can take part
- Conditions the study is for
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers
- What is being tested?
- Blood draw and muscle biopsy
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 125 participants
- Where
- 1 siteBelgium
- Study dates
- Oct 2014to Jan 2025
- Phase
- Interventional
- 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 Up to 40 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- According to group
- Control group: children seen at a postinfectious consultation
Who cannot join
- Control group: symptoms overlapping with PREPL deficiency, genetic or syndromic disease, atypically developing children
- other groups: contraindication for blood draw
- group with muscle biopsy: contra-indication for muscle biopsy
Trial locations and contacts
1 site in 1 country.
About this study
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
Read the detailed description
PREPL is defective in hypotonia cystinuria syndrome and in isolated PREPL deficiency. The investigators have constructed a blood test to evaluate PREPL activity in patients with possible PREPL deficiency.
The study will determine normal values for age (0-18) for PREPL activity in blood.
Also, patients with a clinical phenotype that overlaps with PREPL deficiency (including patients with known primary PREPL deficiency and Prader-Willi syndrome) will be evaluated for PREPL activity in blood.
A last part of the study will involve muscle biopsies during elective anesthesia/surgery for other reasons. There will be 2 groups: patients without signs of PREPL deficiency undergoing surgery (controls) and patients with Prader-Willi syndrome undergoing anesthesia or surgery (patients). The control group will be age-matched to the hypotonia group. In the muscle biopsies, PREPL activity and expression will be evaluated.
- Conditions
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers, Dwarfism, Growth Hormone Deficiency, Obesity, Prader-Willi Syndrome
- Being tested
- Blood draw, muscle biopsy
- Medical subject headings
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Dwarfism, Pituitary, Obesity, Prader-Willi Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood drawProcedure or surgery
Blood draw
muscle biopsyProcedure or surgery
Muscle biopsy during planned anesthesia/surgery
| Study group | Role | What they receive |
|---|---|---|
| Control Blood | Experimental | Patients on routine postinfectious control, blood draw Receives: Procedure: Blood draw |
| Primary PREPL deficiency Blood | Experimental | Patients with primary PREPL deficiency, blood draw Receives: Procedure: Blood draw |
| Prader Willi syndrome Blood | Experimental | Patients with Prader-Willi syndrome, blood draw Receives: Procedure: Blood draw |
| Primary PREPL deficiency like Blood | Experimental | Patients with symptoms overlapping with primary PREPL deficiency (like hypotonia, growth hormone deficiency, obesity), blood draw Receives: Procedure: Blood draw |
| Control muscle | Experimental | Patients without hypotonia, growth hormone deficiency, obesity, undergoing elective surgery, muscle biopsy from the surgical site and blood draw Receives: Procedure: Blood draw; Procedure: muscle biopsy |
| Prader-Willli syndrome muscle | Experimental | Patients with Prader-Willi syndrome undergoing elective anesthesia or surgery, muscle biopsy (from surgical site if applicable) and blood draw Receives: Procedure: Blood draw; Procedure: muscle biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
PREPL activity (ng active PREPL/g protein) normal values in blood
normal values for PREPL activity
Measured: 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
Measured: 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
Measured: 3 months
Secondary outcomes (1)
PREPL activity in patients with muscle weakness/obesity/growth hormone deficiency compared to activity in normal controls
exploratory evaluation
Measured: 3 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Oct 2014 (estimated)
- Study startOct 2014
- Primary completionJan 2025 (estimated)
- Study completionJan 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Hypotonia-Cystinuria SyndromeStudies of the same condition, open and under way.
- More trials run by Universitaire Ziekenhuizen KU LeuvenThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 125 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Universitaire Ziekenhuizen KU Leuven
- Sponsor type
- University, hospital or other
- Collaborators
- KU Leuven
- Responsible party
- Sponsor
- Investigators
- Luc Régal, MD, Principal investigator, KU Leuven
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02263781
- Sponsor's protocol ID
- S57206
- Acronym
- PHD
- Status last verified
- Jul 2024
- First submitted
- 1 Oct 2014
- Last updated
- 16 Jul 2024
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 24610330Jaeken 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.
PubMed 16385448
Study at a glance
From the registry record, last updated by the sponsor on 16 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- PREPL in Health and Disease
- ClinicalTrials.gov ID
- NCT02263781
- Acronym / sponsor ID
- PHD / S57206
- Conditions
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers, Dwarfism, Growth Hormone Deficiency, Obesity, Prader-Willi Syndrome
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 125 participants (estimated)
- Lead sponsor
- Universitaire Ziekenhuizen KU LeuvenUniversity, hospital or other
- Collaborators
- KU Leuven
- Study start
- Oct 2014
- Primary completion
- Jan 2025 (estimated)
- Study completion
- Jan 2025 (estimated)
- First posted
- 13 Oct 2014 (estimated)
- 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.
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
Detailed description
PREPL is defective in hypotonia cystinuria syndrome and in isolated PREPL deficiency. The investigators have constructed a blood test to evaluate PREPL activity in patients with possible PREPL deficiency.
The study will determine normal values for age (0-18) for PREPL activity in blood.
Also, patients with a clinical phenotype that overlaps with PREPL deficiency (including patients with known primary PREPL deficiency and Prader-Willi syndrome) will be evaluated for PREPL activity in blood.
A last part of the study will involve muscle biopsies during elective anesthesia/surgery for other reasons. There will be 2 groups: patients without signs of PREPL deficiency undergoing surgery (controls) and patients with Prader-Willi syndrome undergoing anesthesia or surgery (patients). The control group will be age-matched to the hypotonia group. In the muscle biopsies, PREPL activity and expression will be evaluated.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Control Blood | Experimental | Procedure: Blood drawPatients on routine postinfectious control, blood draw |
| Primary PREPL deficiency Blood | Experimental | Procedure: Blood drawPatients with primary PREPL deficiency, blood draw |
| Prader Willi syndrome Blood | Experimental | Procedure: Blood drawPatients with Prader-Willi syndrome, blood draw |
| Primary PREPL deficiency like Blood | Experimental | Procedure: Blood drawPatients with symptoms overlapping with primary PREPL deficiency (like hypotonia, growth hormone deficiency, obesity), blood draw |
| Control muscle | Experimental | Procedure: Blood draw, Procedure: muscle biopsyPatients without hypotonia, growth hormone deficiency, obesity, undergoing elective surgery, muscle biopsy from the surgical site and blood draw |
| Prader-Willli syndrome muscle | Experimental | Procedure: Blood draw, Procedure: muscle biopsyPatients with Prader-Willi syndrome undergoing elective anesthesia or surgery, muscle biopsy (from surgical site if applicable) and blood draw |
Who may qualify
- Ages
- Up to 40 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (2 listed)
- According to group
- Control group: children seen at a postinfectious consultation
Key exclusion criteria (3 listed)
- Control group: symptoms overlapping with PREPL deficiency, genetic or syndromic disease, atypically developing children
- other groups: contraindication for blood draw
- group with muscle biopsy: contra-indication for muscle biopsy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood drawBlood draw | Procedure or surgery | Control Blood, Control muscle, Prader Willi syndrome Blood, Prader-Willli syndrome muscle, Primary PREPL deficiency Blood, Primary PREPL deficiency like Blood |
| muscle biopsyMuscle biopsy during planned anesthesia/surgery | Procedure or surgery | Control muscle, Prader-Willli syndrome muscle |
Primary outcome
PREPL activity (ng active PREPL/g protein) normal values in blood
Time frame: 3 months
normal values for PREPL activity
PREPL activity in patients with Prader Willi syndrome compared to activity in normal controls
Time frame: 3 months
Comparison of PREPL activity in blood and muscle between above mentioned groups
PREPL activity in patients with primary PREPL deficiency compared to activity in normal controls
Time frame: 3 months
Comparison of PREPL activity in blood between above mentioned groups
1 secondary outcome
PREPL activity in patients with muscle weakness/obesity/growth hormone deficiency compared to activity in normal controls
Time frame: 3 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jul 2024.
- Background: PubMed 24610330Regal 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.
- Background: PubMed 16385448Jaeken 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.
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.
Luc Régal, MD principal investigator
KU Leuven
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood draw and muscle biopsy in people with Hypotonia-Cystinuria Syndrome and Muscle Hypotonia, run by Universitaire Ziekenhuizen KU Leuven at 1 site in Belgium.
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 2 inclusion and 3 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: status not confirmed, as of the sponsor's last update on 16 Jul 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Belgium. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
Results are not available in the source record.
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?
PREPL activity (ng active PREPL/g protein) normal values in blood (time frame: 3 months). The study lists 3 primary outcomes in all. 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 NCT02263781, which also lists 2 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 16 Jul 2024; AzTrials last refreshed its copy on 6 Nov 2026.