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Clinical Trial Details — Status: Enrolling by invitation

Administrative data

NCT number NCT02640443
Other study ID # 2015/059
Secondary ID
Status Enrolling by invitation
Phase Phase 2
First received October 7, 2015
Last updated December 22, 2015
Start date October 2015
Est. completion date October 2016

Study information

Verified date October 2015
Source Universitair Ziekenhuis Brussel
Contact n/a
Is FDA regulated No
Health authority Belgium: Federal Agency for Medicines and Health Products, FAMHP
Study type Interventional

Clinical 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).


Recruitment information / eligibility

Status Enrolling by invitation
Enrollment 15
Est. completion date October 2016
Est. primary completion date October 2016
Accepts healthy volunteers No
Gender Both
Age group 2 Months and older
Eligibility Inclusion Criteria:

- 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

Exclusion Criteria:

- 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

Study Design

Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Single Blind (Outcomes Assessor), Primary Purpose: Treatment


Intervention

Drug:
Sulfamethoxazole
60 mg sulfamethoxazole per kg bodyweight (maximal of 3g) divided in 2 doses per day during 3 weeks

Locations

Country Name City State
n/a

Sponsors (2)

Lead Sponsor Collaborator
Universitair Ziekenhuis Brussel Katholieke Universiteit Leuven

References & Publications (1)

Régal 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. — View Citation

Outcome

Type Measure Description Time frame Safety issue
Primary Change in ptosis on myasthenia gravis composite scale ptosis item on the myasthenia gravis composite scale: single blinded scoring on video-images Change in score between baseline/1 week after treatment stop versus third week of treatment No
Primary Change in ptosis index ptosis index, single blinded measurement on photograph Change in index between baseline/1 week after treatment stop versus third week of treatment No
Primary Change in lip length index lip length index, single blinded measurement on photographs Change in index between baseline/1 week after treatment stop versus third week of treatment No
Primary Change in lip purse index Lip purse index, single blinded measurement on photographs Change in index between baseline/1 week after treatment stop versus third week of treatment No
Secondary 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) Change in Composite score between baseline/1 week after treatment stop versus third week of treatment No
Secondary Change in myasthenia gravis composite score Sum of all the subscores Change in score between baseline/1 week after treatment stop versus third week of treatment No
Secondary myasthenia gravis composite dysarthria and eye closure subscores scored on video Change in score between baseline/1 week after treatment stop versus third week of treatment No
Secondary Change in muscle strength scored with hand-held manometry Change in strength between baseline/1 week after treatment stop versus third week of treatment No
Secondary Change in complete blood count complete blood count (development of cytopenia) Change between baseline/1 week after treatment stop versus third week of treatment Yes
Secondary Change in Glycemia Glycemia Change between baseline/1 week after treatment stop versus third week of treatment Yes
Secondary Change in renal ultrasound renal ultrasound development of kidney stones after the third week of treatment versus baseline Yes
Secondary Change in myasthenia gravis-activities of daily life Scale with rating of activities of daily life Change in score between baseline/1 week after treatment stop versus third week of treatment No
Secondary Change in neuropsychology Child Behaviour checklist composite score of Child Behaviour checklist Change in score between baseline/1 week after treatment stop versus third week of treatment No
Secondary Change in neuropsychology Brief composite score of Brief Change in score between baseline/1 week after treatment stop versus third week of treatment No
Secondary Change in neuropsychology Amsterdamse neuropsychologische test composite score of Amsterdamse Neuropsychologische test (ANT) Change in score between baseline/1 week after treatment stop versus third week of treatment No
Secondary Change in Insulin insulin Change between baseline/1 week after treatment stop versus third week of treatment No
Secondary Change in IGF1 IGF-1 Change between baseline/1 week after treatment stop versus third week of treatment No
Secondary Change in IGFPB3 IGFBP3 Change between baseline/1 week after treatment stop versus third week of treatment No
Secondary Change in pupillometry dynamic pupillometry with infrared camera Change between baseline/1 week after treatment stop versus third week of treatment No