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Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (SPPD)

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ClinicalTrials.gov Identifier: NCT02640443
Recruitment Status : Unknown
Verified October 2015 by Universitair Ziekenhuis Brussel.
Recruitment status was:  Enrolling by invitation
First Posted : December 29, 2015
Last Update Posted : December 29, 2015
Sponsor:
Collaborator:
KU Leuven
Information provided by (Responsible Party):
Universitair Ziekenhuis Brussel

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).

Condition or disease Intervention/treatment Phase
Hypotonia Cystinuria Syndrome Isolated PREPL Deficiency Drug: Sulfamethoxazole Phase 2

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 15 participants
Intervention Model: Single Group Assignment
Masking: Single (Outcomes Assessor)
Primary Purpose: Treatment
Official Title: Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie)
Study Start Date : October 2015
Estimated Primary Completion Date : October 2016
Estimated Study Completion Date : October 2016

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
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




Primary Outcome Measures :
  1. 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

  2. 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

  3. 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

  4. 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


Secondary Outcome Measures :
  1. 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)

  2. 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

  3. 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

  4. 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

  5. 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)

  6. Change in Glycemia [ Time Frame: Change between baseline/1 week after treatment stop versus third week of treatment ]
    Glycemia

  7. Change in renal ultrasound [ Time Frame: development of kidney stones after the third week of treatment versus baseline ]
    renal ultrasound

  8. 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

  9. 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

  10. 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

  11. 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)

  12. Change in Insulin [ Time Frame: Change between baseline/1 week after treatment stop versus third week of treatment ]
    insulin

  13. Change in IGF1 [ Time Frame: Change between baseline/1 week after treatment stop versus third week of treatment ]
    IGF-1

  14. Change in IGFPB3 [ Time Frame: Change between baseline/1 week after treatment stop versus third week of treatment ]
    IGFBP3

  15. Change in pupillometry [ Time Frame: Change between baseline/1 week after treatment stop versus third week of treatment ]
    dynamic pupillometry with infrared camera



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Ages Eligible for Study:   2 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02640443


Sponsors and Collaborators
Universitair Ziekenhuis Brussel
KU Leuven
Investigators
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Principal Investigator: Luc Régal, MD Universitair Ziekenhuis Brussel

Publications:
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Responsible Party: Universitair Ziekenhuis Brussel
ClinicalTrials.gov Identifier: NCT02640443     History of Changes
Other Study ID Numbers: 2015/059
First Posted: December 29, 2015    Key Record Dates
Last Update Posted: December 29, 2015
Last Verified: October 2015
Additional relevant MeSH terms:
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Cystinuria
Renal Aminoacidurias
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Sulfamethoxazole
Anti-Infective Agents