KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
The KHENERFIN study aims to determine whether the study medicine, sonlicromanol, is able to reduce symptoms of fatigue and the impact of fatigue on daily life, and whether sonlicromanol is able to improve physical abilities of people like balance control and lower limb skeletal muscle strength in people with mitochondrial disease.
In this study, the effects of sonlicromanol are compared against a placebo, a tablet identical in appearance and taste but without the active drug. Participants take either…
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
About this study
The KHENERFIN study aims to determine whether the study medicine, sonlicromanol, is able to reduce symptoms of fatigue and the impact of fatigue on daily life, and whether sonlicromanol is able to improve physical abilities of people like balance control and lower limb skeletal muscle strength in people with mitochondrial disease.
In this study, the effects of sonlicromanol are compared against a placebo, a tablet identical in appearance and taste but without the active drug. Participants take either sonlicromanol or placebo twice daily for a treatment duration of 52 weeks.
In addition to these primary objectives, the study evaluates the efficacy of sonlicromanol on secondary and exploratory outcomes, as well as its safety and tolerability after one year of treatment.
Interventions
Drug: Sonlicromanol — Administration of 90 mg sonlicromanol (100 mg sonlicromanol.HCl) twice daily during 52 weeks
Drug: Placebo — Administration of 100 mg placebo twice daily during 52 weeks
Primary outcomes
Neuro-QoL Fatigue Short Form v1 (Screening, Baseline (Day 1), Weeks 13, 26, 39, 52 (End of Trial Visit))
Five Times Sit-To-Stand Test (5XSST) (Screening, Baseline (Day 1), Weeks 13, 26, 39, 52 (End of Trial Visit))
Eligibility information
Inclusion criteria
1. Signed Informed Consent
2. Males and females aged ≥18 years with a multi-system primary mitochondrial disease.
3. A confirmed mitochondrial DNA tRNALeu(UUR) m.3243A\>G mutation (m.3243A\>G PMD) plus an age adjusted heteroplasmy percentage ≥ 20% in white blood cells \[=blood heteroplasmy/0.977(age+12)\]. Or in urine (urinary epithelial cells), or buccal smear or skeletal muscle (results (obtained per local guidance) ≥ 20% must be available prior to the subject being randomized).
4. Presence of chronic fatigue (not attributable to other etiologies than PMD):
1. Patient self-reported chronic fatigue for at least 3 months prior to the Screening Visit and recorded in the clinical patient files; AND
2. Presence of fatigue (raw total score \>22), assessed by Neuro-QoL SFv1-F at Screening.
5. Presence of mitochondrial myopathy defined as:
5xSST at Screening and Baseline should be ≥ 11 seconds and participant must demonstrate the ability to complete the test at baseline (i.e., complete the test within 30 seconds).
6\. Other Inclusion criteria per protocol.
Exclusion criteria
1. Treatment with any IMP within 3 months (or 5 times the half-life of the IMP, whichever is longer) prior to screening or plans to use an IMP (other than the study intervention) during the study.
2. Bone deformities, motor abnormalities or chronic ulcers that in the opinion of the PI may interfere with and/or confound the interpretation of the subject's performance during the 5 times sit to stand test (5XSST).
3. Surgery of gastrointestinal tract that might interfere with drug absorption. Or severe GI dysmotility, chronic vomiting, diarrhea, bouts of pseudo-obstruction which will impair appropriate IMP absorption in the opinion of the investigator.
4. Clinically significant respiratory disease and/or cardiac disease (medical history or current clinical findings) in the opinion of the investigator.
5. Prior interventional cardiac procedure (e.g., cardiac catheterization, angioplasty/percutaneous coronary intervention, balloon valvuloplasty, etc.) within 3 months prior to screening.
6. Structural heart disease based on cardiac MRI or Echocardiography (e.g., clinically significant valve disease; i.e., aortic or mitral valve stenosis or regurgitation) and / or Left ventricular dysfunction (LVEF \<52% in men and \< 54% in women) and / or congestive cardiac failure (more severe than grade II) and / or Maximum left-ventricular septal or posterior wall thickness \> 15 mm and / or Evidence of active myocardial ischaemia, ECG evidence and / or recent history of myocardial infarction (\< 6-months) and / or coronary angioplasty / coronary bypass surgery (\< 12 months).
7. Family history of unexplained/uninvestigated syncope or congenital long and short QT syndrome or sudden death (under the age of 60) and / or Abnormal QTcF interval \[QTcF \> 450 msec (men) or QTcF \> 470 msec (women) = abnormally long QTcF or QTcF \< QT \< 320ms = abnormally short QtcF\] and / or Intermittent or persistent WPW (pre-excitation) syndrome on ECG \[ie: abnormally wide QRS \> 120ms with slurred up-stroke ('delta' wave) and PR-interval \< 120ms\] and / or ECG evidence of atrial fibrillation (permanent, persistent or paroxysmal) and / or
High grade AV Block \[2nd-degree AV block Type II (ie: 2:1) or complete AV block (3rd degree) or intermittent conduction system abnormalities with the exception of any of the following:
* 1st degree atrioventricular (AV)-block
* 2nd degree AV-block Type 1 (Mobitz Type 1 / Wenckebach type)
* Right bundle branch block.
8. History of acute heart failure (within the last 3 months).
9. Higher degree of AV-blocks (AVB II° or III°).
10. Other exclusion criteria per protocol
Study locations
Massachusetts General Hospital, Boston, Massachusetts 02114 United States
Cleveland Clinic Neurological Institute Mellen Center, Cleveland, Ohio 44195 United States
The University of Texas Health Science Center at Houston, Houston, Texas 77030 United States
Rigshospitalet, University of Copenhagen, Kopenhagen, Region Sjælland DK2100 Denmark
CHU de Bordeaux - Hôpital Pellegrin Service Gynecologie Obstetrique, Bordeaux, Gironde 33000 France
Groupe Hospitalier Pitie-Salpetriere - Charles-Foix Clinical Investigation Center Paris-Est, Paris, Paris 75013 France
Klinikum der Universität München Friedrich-Baur-Institut, München, 80336 Germany
Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, 20133 Italy
Radboud University Medical Center, Nijmegen, Gelderland 6525 Netherlands
University College London Hospitals NHS Foundation Trust National Hospital for Neurology and Neurosurgery, London, Greater London WC1N 3BG United Kingdom
Before you participate: Varda Clinical is an independent discovery tool, not the study sponsor or a medical provider. Eligibility can only be determined by the official study team. Discuss potential risks and benefits with a qualified healthcare professional.
Source: ClinicalTrials.gov. Record last refreshed by Varda Clinical: 2026-10-21.