Sulfamethoxazole for the Treatment of Primary PREPL Deficiency

NCT ID: NCT02640443

Last Updated: 2015-12-29

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Clinical Phase

PHASE2

Total Enrollment

15 participants

Study Classification

INTERVENTIONAL

Study Start Date

2015-10-31

Study Completion Date

2016-10-31

Brief Summary

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The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency).

Detailed Description

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Conditions

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Hypotonia Cystinuria Syndrome Isolated PREPL Deficiency

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

SINGLE

Outcome Assessors

Study Groups

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Treatment

Treatment with sulfamethoxazole. Subjects will serve as their own control, by using the data from baseline and after treatment stop.

Group Type EXPERIMENTAL

Sulfamethoxazole

Intervention Type DRUG

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

Interventions

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Sulfamethoxazole

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

Intervention Type DRUG

Eligibility Criteria

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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
Minimum Eligible Age

2 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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KU Leuven

OTHER

Sponsor Role collaborator

Universitair Ziekenhuis Brussel

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Luc Régal, MD

Role: PRINCIPAL_INVESTIGATOR

Universitair Ziekenhuis Brussel

References

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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.

Reference Type BACKGROUND
PMID: 24610330 (View on PubMed)

Other Identifiers

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2015/059

Identifier Type: -

Identifier Source: org_study_id