NCT02640443

Brief Summary

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

Trial Health

35
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
15

participants targeted

Target at below P25 for phase_2

Timeline
Completed

Started Oct 2015

Shorter than P25 for phase_2

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 1, 2015

Completed
6 days until next milestone

First Submitted

Initial submission to the registry

October 7, 2015

Completed
3 months until next milestone

First Posted

Study publicly available on registry

December 29, 2015

Completed
9 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 1, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2016

Completed
Last Updated

December 29, 2015

Status Verified

October 1, 2015

Enrollment Period

1 year

First QC Date

October 7, 2015

Last Update Submit

December 22, 2015

Conditions

Hypotonia Cystinuria SyndromeIsolated PREPL Deficiency

Outcome Measures

Primary Outcomes (4)

  • 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

  • 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

  • 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

  • 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

Secondary Outcomes (15)

  • Change in satiety

    Change in Composite score between baseline/1 week after treatment stop versus third week of treatment

  • Change in myasthenia gravis composite score

    Change in score between baseline/1 week after treatment stop versus third week of treatment

  • myasthenia gravis composite dysarthria and eye closure subscores

    Change in score between baseline/1 week after treatment stop versus third week of treatment

  • Change in muscle strength

    Change in strength between baseline/1 week after treatment stop versus third week of treatment

  • Change in complete blood count

    Change between baseline/1 week after treatment stop versus third week of treatment

  • +10 more secondary outcomes

Study Arms (1)

Treatment

EXPERIMENTAL

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

Drug: Sulfamethoxazole

Interventions

SulfamethoxazoleDRUG

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

Treatment

Eligibility Criteria

Age2 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Related Publications (1)

  • 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.

    PMID: 24610330BACKGROUND

MeSH Terms

Conditions

Hypotonia-Cystinuria Syndrome

Interventions

Sulfamethoxazole

Intervention Hierarchy (Ancestors)

BenzenesulfonamidesSulfonamidesAmidesOrganic ChemicalsSulfanilamidesAniline CompoundsAminesBenzene DerivativesHydrocarbons, AromaticHydrocarbons, CyclicHydrocarbonsSulfonesSulfur Compounds

Study Officials

  • Luc Régal, MD

    Universitair Ziekenhuis Brussel

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
phase 2
Allocation
NA
Masking
SINGLE
Who Masked
OUTCOMES ASSESSOR
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 7, 2015

First Posted

December 29, 2015

Study Start

October 1, 2015

Primary Completion

October 1, 2016

Study Completion

October 1, 2016

Last Updated

December 29, 2015

Record last verified: 2015-10