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Phase 2 N=21 Treatment

A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome

Wolfram Syndrome · Diabetes Mellitus · Optic Nerve Atrophy · Ataxia

Enrolled (actual)
21
Serious AEs
0.0%
Results posted
Mar 2024
Primary outcome: Primary: Number of Participants With Treatment-related Adverse Events as Assessed by Liver Function Tests — 0; 0; 0; 2 Participants

Study Design & Population

Study type
Interventional
Phase
Phase 2
Interventions
dantrolene sodium (Drug)
Age
Pediatric, Adult · 5+ yrs
Sex
All
Sponsor
Washington University School of Medicine
Primary completion
Feb 2023

Outcome Measures

OutcomeResultp-value
PRIMARY
Number of Participants With Treatment-related Adverse Events as Assessed by Liver Function Tests
0; 0; 0; 2
SECONDARY
Changes in C-peptide Levels in Participants Assessed by the ELISA Assay
0.34; 0.19; 0.47; 0.30
SECONDARY
Changes in Visual Functioning in Participants Assessed by Visual Functioning Questionnaire-25.
68; 74.3; 70.5; 73.5
SECONDARY
Changes in Best-corrected Visual Acuity in Participants Measured by LogMar Score
0.6; 0.8; 0.6; 0.9
SECONDARY
Changes in Neurological Functions in Participants Assessed by the Wolfram Unified Rating Scale (WURS)
21.3; 20.5; 18.4; 18.6

Summary

Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. The purpose of this study is to assess the safety and tolerability of dantrolene sodium in patients with Wolfram syndrome. In addition, we will assess the efficacy of dantrolene sodium on the cardinal manifestations of Wolfram syndrome, including visual acuity, remaining beta cell functions, and neurological functions. There is a screening period up to 56 days, a 6-month treatment period with an optional extension phase up to 24 months, and a 4-week safety follow-up period. Study assessments include medical & medication history, physical exams, neurological exams, eye exams, endocrine exams, vital signs, height, weight, electrocardiograms, blood and urine tests, pregnancy test if applicable, and questionnaires.

Eligibility Criteria

Inclusion Criteria

Patients must meet all of the following criteria to be eligible for enrolment:

  • The patient has a definitive diagnosis of Wolfram syndrome, as determined by the following:

a. Documented functionally relevant recessive mutations on both alleles of the WFS1 gene or dominant mutation on one allele of the WFS1 gene based on historical test results (if available) or from a qualified laboratory at screening.

  • The patient is at least 5 years of age (biological age) at the time of written informed consent.
  • The patient, patient's parent(s), or legally authorized guardian(s) must have voluntarily signed an Institutional Review Board/Independent Ethics Committee-approved informed consent form after all relevant aspects of the study have been explained and discussed with the patient. The guardians' consent and patient's assent, as relevant, must be obtained.

Exclusion Criteria

Patients who meet any of the following criteria are not eligible for this study:

  • The patient has clinically significant non-Wolfram related CNS involvement which is judged by the investigator to be likely to interfere with the accurate administration and interpretation of protocol assessments.
  • The patient has a known defect in oxidative phosphorylation (such as a confirmed mitochondrial myopathy)
  • The patient has abnormal liver function (defined as serum transaminases more than twice the upper limit of normal for the reference laboratory)
  • The patient has a significant medical or psychiatric co-morbidity that might affect study data or confound the integrity of study results.
  • The patient has received treatment with any investigational drug within the 30 days prior to study entry.
  • The patient has received blood product transfusions within 90 days prior to screening.
  • The patient is unable to comply with the protocol, (e.g. has a clinically relevant medical condition making implementation of the protocol difficult, unstable social situation, known clinically significant psychiatric/behavioural instability, is unable to return for safety evaluations, or is otherwise unlikely to complete the study), as determined by the Investigator.
  • The patient has a known history of central apnea and/or ventilation requirements.
  • The patient has a known history of chronic obstructive pulmonary disease, pleural effusion, and/or myocardial disease.
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT02829268). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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