Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (SPPD)

December 22, 2015 updated by: Universitair Ziekenhuis Brussel

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).

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Unknown

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Anticipated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
15

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Phase 2

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

2 months and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: Single

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Experimental: Treatment
Treatment with sulfamethoxazole. Subjects will serve as their own control, by using the data from baseline and after treatment stop.
Drug: Sulfamethoxazole
60 mg sulfamethoxazole per kg bodyweight (maximal of 3g) divided in 2 doses per day during 3 weeks

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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 score between baseline/1 week after treatment stop versus third week of treatment
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 index between baseline/1 week after treatment stop versus third week of treatment
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 index between baseline/1 week after treatment stop versus third week of treatment
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
Change in index between baseline/1 week after treatment stop versus third week of treatment

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Change in satiety
Time Frame: Change in Composite score between baseline/1 week after treatment stop versus third week of treatment
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
Change in myasthenia gravis composite score
Time Frame: Change in score between baseline/1 week after treatment stop versus third week of treatment
Sum of all the subscores
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
scored on video
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
scored with hand-held manometry
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
complete blood count (development of cytopenia)
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
Glycemia
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
renal ultrasound
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
Scale with rating of activities of daily life
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
composite score of Child Behaviour checklist
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
composite score of Brief
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
composite score of Amsterdamse Neuropsychologische test (ANT)
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
insulin
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
IGF-1
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
IGFBP3
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
dynamic pupillometry with infrared camera
Change between baseline/1 week after treatment stop versus third week of treatment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Universitair Ziekenhuis Brussel

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
KU Leuven

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Luc Régal, MD, Universitair Ziekenhuis Brussel

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
October 1, 2015

Primary Completion (Anticipated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
October 1, 2016

Study Completion (Anticipated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
October 1, 2016

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
October 7, 2015

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
December 22, 2015

First Posted (Estimate)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
December 29, 2015

Study Record Updates

Last Update Posted (Estimate)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
December 29, 2015

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
December 22, 2015

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
October 1, 2015

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 2015/059

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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