Sideros

Principal Investigator: Russell Butterfield
Keywords: Duchenne Muscular Distrophy , DMD , Muscular Distrophy , Neuromuscular Department: Pediatric Administration
IRB Number: 00090388 Co Investigator: Nicholas Johnson
Specialty: Neurology, Neurology, Neurology, Neurology
Sub Specialties: Neuromuscular Diseases, General Neurology, Movement Disorders, Muscular Dystrophy
Recruitment Status: Recruiting

Contact Information

Brianna Jensen
briaj@genetics.utah.edu
801-585-9399

Brief Summary

 

In Duchenne Muscular Distrophy (DMD) participants, weak respiratory functions is a general progression of the disease that usually develops by the age of 20.  With the increased weakness of the respiratory muscles these participants are at an increased risk for respiratory infections that are life threatening. An effective method of treatment is still not available for the DMD population. This study will research possible benefits of Idebenone in the DMD population that are taking glucocorticoid steroids. Specifically looking at respiratory functions using a hand held spirometry device. 

 

Inclusion Criteria

1. Male patients with a 30% ≤ FVC ≤ 80% of predicted value at Screening and at Baseline.

2. Minimum 10 years old at Screening 

3. Signed and dated Informed Consent Form.

4. Documented diagnosis of DMD (severe dystrophinopathy) and clinical features consistent of typical DMD at diagnosis (i.e. documented delayed motor skills and muscle weakness by age 5 years). DMD should be confirmed by mutation analysis in the dystrophin gene or by substantially reduced levels of dystrophin protein (i.e. absent or <5% of normal) on Western blot or immunostaining.

5.Chronic use of systemic glucocorticoid steroids for DMD related conditions continuously for at least 12 months prior to Baseline without any dose adjustments on a mg/kg basis in the last 6 months (only dose adjustment determined by weight changes are allowed).

6. Ability to provide reliable and reproducible repeat FVC within 15% (relative change) of the screening assessment at Baseline.

7. Patients assessed by the Investigator as willing and able to comply with the requirements of the study, possess the required cognitive abilities and are able to swallow study medication.

8. Patients who have been immunized with 23-valent pneumococcal polysaccharide vaccine or any other pneumococcal polysaccharide vaccine as per national recommendations, as well as annually immunized with inactivated influenza vaccine.

Exclusion Criteria

1. Symptomatic heart failure (defined as patients with structural heart disease, dyspnea, fatigue and impaired tolerance to exercise; Stage C by ACCF/AHA guideline or NYHA III-IV) and/or symptomatic ventricular arrhythmias.

2. Ongoing participation in any other therapeutic trial and/or intake of any investigational drug within 90 days prior to Baseline (only exception allowed is use of Deflazacort in US as part of the Expanded Access Program).

3. Ongoing exon-skipping or read-through gene therapy for DMD; previous exon-skipping or read-through gene therapy is allowed if the stop date was more than 6 months prior to screening.

4. Planned or expected spinal fixation surgery during the study period (as judged by the Investigator, i.e. due to rapidly progressing scoliosis), prior spinal fixation surgery is allowed if it took place more than 6 months prior to Screening.

5. Asthma, bronchitis/COPD, bronchiectasis, emphysema, pneumonia or presence of any other non-DMD respiratory illness that affects respiratory function.

6. Chronic use of beta2-agonists or any use of other bronchodilating/bronchoconstricting medication (inhaled steroids, sympathomimetics, anti-cholinergics, antihistamines); chronic use is defined as a daily intake for more than 14 days.

7. Any bronchopulmonary illness that required treatment with antibiotics within 3 months prior to Screening.

8. Moderate or severe hepatic impairment (Child-Pugh class B [7 to 9 points] or Child-Pugh class C [10 to 15 points] - see Appendix B) or severe renal impairment (eGFR <30 mL/min/1.73 m2).

9. Prior or ongoing medical condition or laboratory abnormality which in the Investigator’s opinion may put the patient at significant risk, may confound the study results or may interfere significantly with the patient’s participation in the study .

10. History of or current drug or alcohol abuse or use of any tobacco/marijuana products/smoking.

11. Known individual hypersensitivity to idebenone or to any of the ingredients/excipients of the study medication.

12. Daytime ventilator assistance (defined as use of any assisted ventilation while awake).