Current Clinical Trials & Studies

INFORMATION ON STEALTH BIOTHERAPEUTICS OBSERVATIONAL STUDY
RePOWER (SPIMM-300) FOR PATIENTS WITH MITOCHONDRIAL MYOPATHY

Click here to see informational graphic
For Frequently Asked Questions about this study, click here.

STEALTH BIOTHERAPEUTICS SHARES PROMISING DATA FROM MITOCHONDRIAL MYOPATHY TRIAL

Recently, at the 2017 UMDF Mitochondrial Medicine Symposium, Stealth BioTherapeutics shared very encouraging results from its second clinical trial for primary mitochondrial myopathy, the MMPOWER-2 study. Stealth is a Boston-based biopharmaceutical company developing therapeutics to treat mitochondrial dysfunction; its lead drug under investigation is elamipretide (previously known as Bendavia). Primary mitochondrial myopathy (PMM) is a genetically-acquired mitochondrial disease characterized by signs and symptoms of myopathy (debilitating muscle weakness, easy fatigability, exercise intolerance and pain). The Phase 2 MMPOWER-2 trial was conducted to evaluate safety, tolerability and efficacy of treatment using elamipretide in 30 adult (ages 16-65) patients with PMM. An overall assessment of the top-line MMPOWER-2 results showed benefit across multiple endpoints and is supportive of continuation toward a Phase 3 study in this patient population.

Patients enrolled in MMPOWER-2 previously participated in Stealth’s MMPOWER trial, designed to assess dosing, which demonstrated a dose-dependent improvement in distance walked in the 6-Minute walk test (6MWT) after 5 days of once daily intravenous administration of elamipretide or placebo. In MMPOWER-2, patients were randomized to once daily subcutaneous administration of elamipretide or placebo for a longer period of time (four weeks), and then, after a washout period, received the opposite treatment during a second four-week dosing period.  Patients, their doctors and investigators at Stealth were unaware of which group patients belonged to during the trial and the subsequent assessments.

This type of study design, known as a randomized, double-blind, placebo-controlled crossover study, is considered a “gold standard” in clinical trials evaluating investigational drugs. Randomized controlled trials can be challenging in rare and orphan diseases because there simply are not as many patients available to participate, and there tend to be as many differences as there are similarities between patients who may have the same diagnosis (also known as heterogeneity).
Multiple endpoints, or outcomes, were considered and evaluated during the MMPOWER-2 trial in addition to the 6MWT, including the Neuro-QoL (Quality of Life in Neurological Disorders) measurement system, and a new patient-reported outcome tool, the Primary Mitochondrial Myopathy Symptom Assessment (PMMSA), developed by Stealth specifically for this patient population. Other tools and measures for safety, tolerability and functional assessment were also applied.


Pediatric Mitochondrial Disorders Clinical Trial 
BioElectron Technology Corporation, formerly Edison Pharmaceuticals (BioE-743, formerly EPI-743)
BioE-743 is administered orally, passes into the brain, and works by regulating key enzymes involved in the synthesis and regulation of energy metabolism. A pediatric-focused Phase 2b trial of BioE-743 was completed at the end of 2014 and BioElectron continues to analyze trial data, meet with regulatory authorities worldwide and prepare for a next set of clinical trials across a number of mitochondrial disorders.

https://clinicaltrials.gov/ct2/show/NCT01721733 (not actively recruiting)


Adult Mitochondrial Disorders Clinical Trials

Reata Pharmaceuticals (RTA 408, omavaloxolone)– In preclinical studies RTA 408 was shown to target inflammatory, metabolic, and mitochondrial pathways by inducing Nrf2 and suppressing NF-kB. Unlike other drugs in development for the treatment of mitochondrial disease, RTA 408 directly affects mitochondrial function and energy production in muscle cells. In 2015, Reata launched a Phase 2 clinical trial (the MOTOR study) to evaluate the efficacy, safety, and pharmacodynamics of RTA 408 in the treatment of adult patients with mitochondrial myopathy. Exercise capacity is utilized in MOTOR as the primary efficacy endpoint through measuring change in peak work during maximal exercise testing. Currently patients are being enrolled across 9 sites in the dose-ranging portion of this 2-part study. Initial results on the dose-ranging portion (part 1) are expected in early 2018. https://clinicaltrials.gov/ct2/show/NCT02255422 (actively recruiting)


Stealth BioTheapeutics
(MTP-131, elamipretide)- MTP-131 is a small molecule peptide designed to penetrate the cellular and outer mitochondrial membrane and target cardiolipin, which is found exclusively in the inner mitochondrial membrane. MTP-131 has been shown to positively impact dysfunctional mitochondria in nonclinical studies, with no effect in healthy mitochondria. In June 2016 Stealth reported positive preliminary findings on topline data from a Phase 1/2 study to evaluate safety, tolerability and efficacy of MTP-131 to treat mitochondrial myopathy in adult patients with genetically-confirmed mitochondrial disease (MMPOWER study). A follow-on Phase 2 trial (MMPOWER2) focused on subcutaneous efficacy launched returned positive data in 2017. In anticipation of a Phase 3 trial in 2018, Stealth has launched a 1-year observational study (RePOWER) from which Phase 3 participants will be recruited. https://clinicaltrials.gov/ct2/show/NCT03048617 (actively recruiting)

Pearson Study at Cleveland Clinic
The Cleveland Clinic is excited to announce that Dr. Sumit Parikh is able to enter subjects remotely into the Pearson Natural History study even if they are not able to visit Cleveland. You do not have to be a patient of Dr. Parikh or Cleveland Clinic to be a part of the study. The Pearson Natural History study is an observational study to obtain information on the natural course of Pearson syndrome through collection of data from your child’s medical records every 6 months.  If enrolling remotely, Dr. Parikh will be unable to provide medical advice.  For any questions about the Pearson Natural History study, please contact research coordinator, Irys Caristo, at 216-444-0173 or 800-223-2273, extension 40173.

AWaRDS Study: Adults with Rare Disorders Support

Oregon State University, in partnership with the National Organization for Rare Disorders, this will be the first large-scale study about the information and psychosocial support needs of people living with rare disorders. The purpose of this research study is to assess these needs, from the perspectives of people with a variety of rare disorders, to find similarities and differences across disorders. To ensure that results reflect the diversity of the rare disease community, it is crucial that as many people living with a rare disease as possible take part.  For details on participation, click here for the flier.

Mitochondrial Disease Participants Needed for New Research Study at CHOP and HUP

Individuals with mitochondrial disease are needed for an observational research study at CHOP and HUP.  The study involves non-invasive MRI methods and blood glucose tests to focus on the relationship between mitochondrial disease, obesity, and risk of diabetes.  To be potentially eligible for the research study, we require the following:

-Medical history consistent with the clinical diagnosis of mitochondrial disease and a molecular genetic diagnosis
-Be between the ages of 18 to 65 years, inclusive
-Able to fast for 10 hours overnight
-Able to complete a 90-minute MRI scan and blood glucose testing

Participants will meet with the principal investigator, Dr. Shana McCormack, MD, and complete a 2-day study visit at HUP and CHOP, including an overnight stay.  We conduct only minimally-invasive procedures with full safety monitoring and there are no study medications or sedation.We may be able to provide reimbursement for travel, lodging, and food.  In addition, participants have the potential to obtain clinically-relevant laboratory results and compensation of up to $275.00.Additional information about the study is also located at https://clinicaltrials.gov/ct2/show/NCT02920671.  To learn more about the research study and determine your eligibility, contact Sara Nguyen at nguyens2@email.chop.edu or (267) 426-7165

Posted 9/4/15
Mitochondrial Disease Research m.3243A>G Mutation Carriers and Maternal Relatives

Mitochondrial Disease

·   Mitochondria are small cellular organelles that are responsible for making energy.

·   Mitochondria contain DNA that instructs our cells to make some of the “machinery” needed for energy production.

·   Genetic mutations in the mitochondrial DNA (mtDNA) can result in serious health problems.

·   A common genetic mutation is the m.3243A>G which can result in a serious disorder calledMitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes (MELAS).

·   Many of the m.3243A>G carriers do not have MELAS but may have clinical symptoms caused by the mutation such as hearing loss, gastrointestional issues and diabetes.

Purpose of the study: To improve our understanding of the implications of the m.3243A>G mutation through MRI/MRS, cognitive studies, blood and urine biomarkers, heteroplasmy levels and motor skills testing. This information could be used to identify future treatment options.

Where does this study take place?  You will travel to New York City, NY to attend a 1 day outpatient research visit.   Patients unwilling to travel may participate by providing blood and urine samples only at their local Quest Laboratory.

Who Qualifies?  Known carriers of the m.3243A>G mutation and their maternal relatives (carrier status is not required) and controls (non-carriers). 

BenefitsThis study may not benefit you directly, but may advance knowledge about mitochondrial disease caused by the m.3243A>G mutation.  The results of this study may help develop treatment options.

Privacy: Your study related samples and data will be given a unique identifying code that does not include any personally identifying information about you.

 Cost : Travel and hotel costs are covered by the study. Research procedures are free.

To participate, contact Kris Engelstad MS, CGC.  1-212-305-6834 or email ke4@cumc.columbia.edu.


Posted 3/25/15
UNIVERSITY HOSPITALS CASE MEDICAL CENTER 
Recruiting children and adults with PDC
Physicians at University Hospitals Case Medical Center in Cleveland, Ohio are currently recruiting children and adults with pyruvate dehydrogenase complex (PDC) deficiency and other disorders of pyruvate metabolism for a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these disorders. The research project involves completing a questionnaire about the individual or family’s medical history and experiences with PDC deficiency or other disorder of pyruvate metabolism, review of medical records by the researchers, and in some cases, genetic testing. No experimental treatments will be given as part of the study, and travel is not necessary. If you are interested in learning more about this research study, please contact Audrey Lynn, study coordinator, at 216-844-3936 option 2.




POSTED 2/6/15
FRANCISCAN HOSPITAL FOR CHILDREN AND THE KENNEDY DAY SCHOOL
Participate in this important survey for parents of children with complex medical needs.



POSTED 01/05/15

CHILDRENS HOSPITAL OF PHILADELPHIA/UNIVERSITY OF PENNSYLVANIA

Mitochondrial Disease Study at the Children’s Hospital of Philadelphia and the University of Pennsylvania.


POSTED 01/05/15

LHON Research Project Mood Study