MELAS Syndrome Clinical Trial
Official title:
A Phase IIa Double-Blind, Randomized, Placebo-Controlled, Dose-Finding Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes
The purpose of this study is to compare the efficacy of two (2) different doses of idebenone with that of a placebo over a one month period on cerebral lactate concentration as measured by magnetic resonance spectroscopy.
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes), a
progressive and often devastating multisystem disorder, is most commonly associated with
mitochondrial Deoxyribonucleic acid (mtDNA) point mutation at nucleotide 3243. Seizures,
cognitive deterioration, and neurobehavioral abnormalities are frequent features of this
disease which typically shortens life expectancy. Idebenone, an ATP production modulator and
antioxidant, improves neurological function in Friedreich's ataxia, a disease also
associated with mitochondrial dysfunction.
Given that there is no effective treatment for MELAS, the investigators propose a Phase II
proof of concept trial of idebenone to study its preliminary efficacy in patients with MELAS
and the A3243G mtDNA mutation, and to study its safety and tolerability in this patient
group.
The investigators propose to evaluate 21 patients with the A3243G mitochondrial DNA mutation
and MELAS (defined by a history of either seizures or stroke). Patients will receive
idebenone (900 mg/day or 2250 mg/day) or matching placebo for one month. The primary outcome
measure is cerebral lactate levels measured by Magnetic Resonance Spectroscopy (MRS), a
biomarker associated with disease worsening. This study will help the investigators to
determine if there is sufficient signal to proceed to efficacy studies. Also it will provide
additional information on the safety and tolerability of two different doses of idebenone in
MELAS.
;
Allocation: Randomized, Endpoint Classification: Pharmacodynamics Study, Intervention Model: Parallel Assignment, Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor), Primary Purpose: Treatment
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT01831934 -
Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)
|
Phase 4 | |
| Not yet recruiting |
NCT06013397 -
Effectiveness of Ketogenic Diet in MELAS Syndrome
|
N/A | |
| Completed |
NCT04165239 -
The KHENERGYZE Study
|
Phase 2 | |
| Completed |
NCT01603446 -
L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome
|
Phase 2 | |
| Active, not recruiting |
NCT00068913 -
Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome
|
Phase 2 | |
| Completed |
NCT03888716 -
A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
|
Phase 1 | |
| Completed |
NCT04948138 -
Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome
|
N/A | |
| Completed |
NCT03056209 -
Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers
|
Phase 1 | |
| Completed |
NCT01339494 -
Nitric Oxide Production in MELAS Syndrome
|
Phase 0 | |
| Active, not recruiting |
NCT05255328 -
Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
|
N/A | |
| Recruiting |
NCT02114554 -
Mitochondrial nt3243 A>G Mutation in Taiwan
|
N/A | |
| Recruiting |
NCT05554835 -
Global Registry and Natural History Study for Mitochondrial Disorders
|
||
| Completed |
NCT01252979 -
Ketones & Mitochondrial Heteroplasmy
|
Phase 0 | |
| Completed |
NCT00004353 -
Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia
|
N/A | |
| Recruiting |
NCT03952234 -
L-Citrulline Dose Finding Safety Study in MELAS
|
Phase 1 |