Hypotonia Cystinuria SyndromePhase 2SPPDNCT02640443
Sulfamethoxazole for the Treatment of Primary PREPL Deficiency
A Phase 2 study testing Sulfamethoxazole in people with Hypotonia Cystinuria Syndrome and Isolated PREPL Deficiency, run by Universitair Ziekenhuis Brussel.
Trial summary
The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency). Read more about this study
- Who is it for?
- Ages 2 months and older
- Conditions the study is for
- Hypotonia Cystinuria Syndrome, Isolated PREPL Deficiency
- What is being tested?
- Sulfamethoxazole
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 15 participants
- Where
- No sites listed yet
- Study dates
- Oct 2015to Oct 2016
- Phase
- Phase 2
- 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 2 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- patients with molecular confirmation of primary PREPL deficiency
- who are able to follow the study protocol (for the primary endpoint)
- who have given written informed consent
Who cannot join
- age<2m
- women of child-bearing age unless using a reliable method for contraception and not pregnant at study entrance
- additional diagnosis with influence on muscle force
- not able to follow the study protocol (for the primary endpoint)
- history of sulfonamide hypersensitivity
- diminished renal function based on serum creatinine
- transaminases higher than 3 times the upper limit of normal
- for the pupillometry: eye pathology with the exception of refractive errors, drugs with influence on the pupillary light reflex
About this study
Official title: Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie)
The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency).
- Being tested
- Sulfamethoxazole
- Medical subject headings
- Hypotonia-Cystinuria Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SulfamethoxazoleDrug
60 mg sulfamethoxazole per kg bodyweight (maximal of 3g) divided in 2 doses per day during 3 weeks
| Study group | Role | What they receive |
|---|---|---|
| Treatment | Experimental | Treatment with sulfamethoxazole. Subjects will serve as their own control, by using the data from baseline and after treatment stop. Receives: Drug: Sulfamethoxazole |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in ptosis on myasthenia gravis composite scale
ptosis item on the myasthenia gravis composite scale: single blinded scoring on video-images
Measured: Change in score between baseline/1 week after treatment stop versus third week of treatment
Change in ptosis index
ptosis index, single blinded measurement on photograph
Measured: Change in index between baseline/1 week after treatment stop versus third week of treatment
Change in lip length index
lip length index, single blinded measurement on photographs
Measured: Change in index between baseline/1 week after treatment stop versus third week of treatment
Change in lip purse index
Lip purse index, single blinded measurement on photographs
Measured: Change in index between baseline/1 week after treatment stop versus third week of treatment
Secondary outcomes (15)
Change in satiety
satiety scale (visual analog); 4 questions are asked, a compositie score is made, by adding the different scores (the answers on questions 2 and 3 are counted as negative values)
Measured: Change in Composite score between baseline/1 week after treatment stop versus third week of treatment
Change in myasthenia gravis composite score
Sum of all the subscores
Measured: Change in score between baseline/1 week after treatment stop versus third week of treatment
myasthenia gravis composite dysarthria and eye closure subscores
scored on video
Measured: Change in score between baseline/1 week after treatment stop versus third week of treatment
Change in muscle strength
scored with hand-held manometry
Measured: Change in strength between baseline/1 week after treatment stop versus third week of treatment
Change in complete blood count
complete blood count (development of cytopenia)
Measured: Change between baseline/1 week after treatment stop versus third week of treatment
Change in Glycemia
Glycemia
Measured: Change between baseline/1 week after treatment stop versus third week of treatment
Change in renal ultrasound
renal ultrasound
Measured: development of kidney stones after the third week of treatment versus baseline
Change in myasthenia gravis-activities of daily life
Scale with rating of activities of daily life
Measured: Change in score between baseline/1 week after treatment stop versus third week of treatment
Change in neuropsychology Child Behaviour checklist
composite score of Child Behaviour checklist
Measured: Change in score between baseline/1 week after treatment stop versus third week of treatment
Change in neuropsychology Brief
composite score of Brief
Measured: Change in score between baseline/1 week after treatment stop versus third week of treatment
Change in neuropsychology Amsterdamse neuropsychologische test
composite score of Amsterdamse Neuropsychologische test (ANT)
Measured: Change in score between baseline/1 week after treatment stop versus third week of treatment
Change in Insulin
insulin
Measured: Change between baseline/1 week after treatment stop versus third week of treatment
Change in IGF1
IGF-1
Measured: Change between baseline/1 week after treatment stop versus third week of treatment
Change in IGFPB3
IGFBP3
Measured: Change between baseline/1 week after treatment stop versus third week of treatment
Change in pupillometry
dynamic pupillometry with infrared camera
Measured: Change between baseline/1 week after treatment stop versus third week of treatment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Dec 2015 (estimated)
- Study startOct 2015
- Primary completionOct 2016 (estimated)
- Study completionOct 2016 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)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 Universitair Ziekenhuis BrusselThe 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 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- Single blind
- Who is masked
- Outcomes assessor
- Enrolment
- 15 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Universitair Ziekenhuis Brussel
- Sponsor type
- University, hospital or other
- Collaborators
- KU Leuven
- Responsible party
- Sponsor
- Investigators
- Luc Régal, MD, Principal investigator, Universitair Ziekenhuis Brussel
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02640443
- Sponsor's protocol ID
- 2015/059
- Acronym
- SPPD
- Status last verified
- Oct 2015
- First submitted
- 7 Oct 2015
- Last updated
- 29 Dec 2015
- 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 24610330
Study at a glance
From the registry record, last updated by the sponsor on 29 Dec 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie)
- ClinicalTrials.gov ID
- NCT02640443
- Acronym / sponsor ID
- SPPD / 2015/059
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 15 participants (estimated)
- Lead sponsor
- Universitair Ziekenhuis BrusselUniversity, hospital or other
- Collaborators
- KU Leuven
- Study start
- Oct 2015
- Primary completion
- Oct 2016 (estimated)
- Study completion
- Oct 2016 (estimated)
- First posted
- 29 Dec 2015 (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.
The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency).
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- Single blind (outcomes assessor)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Treatment | Experimental | Drug: SulfamethoxazoleTreatment with sulfamethoxazole. Subjects will serve as their own control, by using the data from baseline and after treatment stop. |
Who may qualify
- Ages
- 2 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- patients with molecular confirmation of primary PREPL deficiency
- who are able to follow the study protocol (for the primary endpoint)
- who have given written informed consent
Key exclusion criteria (8 listed)
- age<2m
- women of child-bearing age unless using a reliable method for contraception and not pregnant at study entrance
- additional diagnosis with influence on muscle force
- not able to follow the study protocol (for the primary endpoint)
- history of sulfonamide hypersensitivity
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 |
|---|---|---|
| Sulfamethoxazole60 mg sulfamethoxazole per kg bodyweight (maximal of 3g) divided in 2 doses per day during 3 weeks | Drug | Treatment |
Primary outcome
Change in ptosis on myasthenia gravis composite scale
Time frame: Change in score between baseline/1 week after treatment stop versus third week of treatment
ptosis item on the myasthenia gravis composite scale: single blinded scoring on video-images
Change in ptosis index
Time frame: Change in index between baseline/1 week after treatment stop versus third week of treatment
ptosis index, single blinded measurement on photograph
Change in lip length index
Time frame: Change in index between baseline/1 week after treatment stop versus third week of treatment
lip length index, single blinded measurement on photographs
Change in lip purse index
Time frame: Change in index between baseline/1 week after treatment stop versus third week of treatment
Lip purse index, single blinded measurement on photographs
15 secondary outcomes
Change in satiety
Time frame: Change in Composite score between baseline/1 week after treatment stop versus third week of treatment
Change in myasthenia gravis composite score
Time frame: Change in score between baseline/1 week after treatment stop versus third week of treatment
myasthenia gravis composite dysarthria and eye closure subscores
Time frame: Change in score between baseline/1 week after treatment stop versus third week of treatment
Change in muscle strength
Time frame: Change in strength between baseline/1 week after treatment stop versus third week of treatment
Change in complete blood count
Time frame: Change between baseline/1 week after treatment stop versus third week of treatment
Change in Glycemia
Time frame: Change between baseline/1 week after treatment stop versus third week of treatment
Change in renal ultrasound
Time frame: development of kidney stones after the third week of treatment versus baseline
Change in myasthenia gravis-activities of daily life
Time frame: Change in score between baseline/1 week after treatment stop versus third week of treatment
Change in neuropsychology Child Behaviour checklist
Time frame: Change in score between baseline/1 week after treatment stop versus third week of treatment
Change in neuropsychology Brief
Time frame: Change in score between baseline/1 week after treatment stop versus third week of treatment
Change in neuropsychology Amsterdamse neuropsychologische test
Time frame: Change in score between baseline/1 week after treatment stop versus third week of treatment
Change in Insulin
Time frame: Change between baseline/1 week after treatment stop versus third week of treatment
Change in IGF1
Time frame: Change between baseline/1 week after treatment stop versus third week of treatment
Change in IGFPB3
Time frame: Change between baseline/1 week after treatment stop versus third week of treatment
Change in pupillometry
Time frame: Change between baseline/1 week after treatment stop versus third week of treatment
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Dec 2015.
- 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.
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
Universitair Ziekenhuis Brussel
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Sulfamethoxazole in people with Hypotonia Cystinuria Syndrome and Isolated PREPL Deficiency, run by Universitair Ziekenhuis Brussel.
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 3 inclusion and 8 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 29 Dec 2015. Status can change between updates, so confirm with the study contact before making plans.
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.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
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?
Change in ptosis on myasthenia gravis composite scale (time frame: Change in score between baseline/1 week after treatment stop versus third week of treatment). The study lists 4 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 NCT02640443, which also lists 1 linked publication.
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 29 Dec 2015; AzTrials last refreshed its copy on 8 Nov 2026.