Primary Mitochondrial DiseaseRePOWERNCT03048617
An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
An observational study of Primary Mitochondrial Disease, run by Stealth BioTherapeutics Inc. at 33 sites in 9 countries.
Trial summary
This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy. The Investigator will identify potential patients through existing medical records and one on-site visit. Read more about this study
- Who is it for?
- Ages 16 to 80 years
- Conditions the study is for
- Primary Mitochondrial Disease
- How many people
- 215 participants
- Where
- 33 sitesin 9 countries
- Study dates
- 13 Feb 2017to 7 Mar 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with clinical presentation of PMD with either signs or symptoms suggestive of myopathy
Who may be able to join
- Willing and able to provide a signed informed consent form (ICF) prior to participation in any-trial related procedures
- Patient has clinical presentation of PMD with either signs or symptoms suggestive of myopathy
- Patient is ambulatory and able to attempt 6MWT
Who cannot join
- Patient has symptoms of PMD due to secondary mitochondrial dysfunction
- Patient has had prior exposure to elamipretide
- Patient does not have the cognitive capacity to understand and complete all study assessments
- Patient has a medical history of severe renal impairment
- History of active alcoholism or drug addiction during the year before enrollment
Trial locations and contacts
33 sites in 9 countries.
33 sites in 9 countries
United States13 sites
Akron Children's Hospital
Akron, Ohio, 44308
Children's Hospital Colorado
Aurora, Colorado, 80045
Massachusetts General Hospital
Boston, Massachusetts, 02114
Cleveland Clinic
Cleveland, Ohio, 44195
Baylor College of Medicine
Houston, Texas, 77030
The University of Texas Health Science Center
Houston, Texas, 77030
University of California San Diego
La Jolla, California, 92093
Columbia University Medical Center
New York, New York, 10032
Stanford Universtity
Palo Alto, California, 94304
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104'
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, 15224
University of Utah Hospital
Salt Lake City, Utah, 84132
Seattle Children's Hospital
Seattle, Washington, 98105
Italy7 sites
IRCCS Institute of Neurological Sciences of Bolgna, Bellaria Hospital
Bologna
ASST Spedali Civili di Brescia
Brescia
Azienda Ospedaliero Universitaria Policlinico G. Martino
Messina, 98125
Istituto Nazionale Neurologico Carlo Besta
Milan
Istituto di Neurologia, Fondazione Policlinico Universitario A. Gemelli
Roma, 00168
Dipartimento Ambientale di Neuroscienze
Roma, 56126
Ospedale Pediatrico Bambin Gesu
Roma
Canada3 sites
University of Calgary Metabolic Disease Clinica
Calgary, Alberta
McMaster University Medical Center
Hamilton, Ontario
Adult Metabolic Diseases Clinic
Vancouver
Australia2 sites
Calvary Health Care Bethlehem
Caulfield South, Victoria
Royal North Shore Hospital
St Leonards
Germany2 sites
University Hospital of Bonn
Bonn, 53105
Klinikim der Universitat Muchen, Friedrich-Baur Institute
Munich, Bavaria, 80336
Spain2 sites
Hospital Universitario 12 de Octubre
Madrid
Neurology Department Hospital Universitari i Politecnic La Fe
Valencia, 46026
United Kingdom2 sites
MRC Centre for Neuromuscular Diseases
London
Royal Victoria Infirmary
Newcastle upon Tyne
About this study
Official title: A Prospective Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy. The Investigator will identify potential patients through existing medical records and one on-site visit.
Read the detailed description
An observational study of patients with presumed Primary Mitochondrial Disease designed to better characterize and correlate symptoms and signs of myopathy and genetic test results and the use of commonly prescribed treatments. The study will help define and identify a subject population for a future trial of an investigational product to treat primary mitochondrial disease associated with signs and symptoms of myopathy.
- Conditions
- Primary Mitochondrial Disease
- Keywords
- Primary Mitochondrial Disease, Stealth, Myopathy, exercise intolerance, muscle pain, Mitochondrial Myopathy, Primary Mitochondrial Myopathy
- Medical subject headings
- Muscular Diseases, Myalgia, Mitochondrial Myopathies
What is being measured
The primary outcome is the main question the study is designed to answer.
Assess the relationship of genotype to phenotype in patients with Primary Mitochondrial Disease
Measured: 1 year
Compare local and regional differences in standard of care and management of patients with Primary Mitochondrial Disease
Measured: 1 year
Secondary outcomes (1)
Compare local and regional differences in genetic testing methodologies for Primary Mitochondrial Disease
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Feb 2017 (estimated)
- Study start13 Feb 2017
- Primary completion2 Aug 2018
- Study completion7 Mar 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Primary Mitochondrial DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 215 participants (actual)
Sponsor and investigators
- Lead sponsor
- Stealth BioTherapeutics Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03048617
- Sponsor's protocol ID
- SPIMM-300
- Acronym
- RePOWER
- Status last verified
- Apr 2019
- First submitted
- 3 Feb 2017
- Last updated
- 11 Apr 2019
- Results posted
- No
- Data monitoring committee
- No
Publications
Karaa A, Goldstein A, Cohen BH, Haas RH, Vockley J, Gorman GS, Mancuso M; RePOWER, MMPOWER-3, and MOTOR investigators. RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy. Clin Genet. 2026 Jan;109(1):86-98. doi: 10.1111/cge.70026. Epub 2025 Aug 11.
PubMed 40785393
Study at a glance
From the registry record, last updated by the sponsor on 11 Apr 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
- ClinicalTrials.gov ID
- NCT03048617
- Acronym / sponsor ID
- RePOWER / SPIMM-300
- Conditions
- Primary Mitochondrial Disease
- Keywords
- Primary Mitochondrial Disease, Stealth, Myopathy, exercise intolerance, muscle pain, Mitochondrial Myopathy, Primary Mitochondrial Myopathy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 215 participants (actual)
- Lead sponsor
- Stealth BioTherapeutics Inc.Industry (pharma, biotech, devices)
- Study start
- 13 Feb 2017 (actual)
- Primary completion
- 2 Aug 2018 (actual)
- Study completion
- 7 Mar 2019 (actual)
- First posted
- 9 Feb 2017 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy. The Investigator will identify potential patients through existing medical records and one on-site visit.
Detailed description
An observational study of patients with presumed Primary Mitochondrial Disease designed to better characterize and correlate symptoms and signs of myopathy and genetic test results and the use of commonly prescribed treatments. The study will help define and identify a subject population for a future trial of an investigational product to treat primary mitochondrial disease associated with signs and symptoms of myopathy.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 16 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with clinical presentation of PMD with either signs or symptoms suggestive of myopathy
Key inclusion criteria (3 listed)
- Willing and able to provide a signed informed consent form (ICF) prior to participation in any-trial related procedures
- Patient has clinical presentation of PMD with either signs or symptoms suggestive of myopathy
- Patient is ambulatory and able to attempt 6MWT
Key exclusion criteria (5 listed)
- Patient has symptoms of PMD due to secondary mitochondrial dysfunction
- Patient has had prior exposure to elamipretide
- Patient does not have the cognitive capacity to understand and complete all study assessments
- Patient has a medical history of severe renal impairment
- History of active alcoholism or drug addiction during the year before enrollment
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Assess the relationship of genotype to phenotype in patients with Primary Mitochondrial Disease
Time frame: 1 year
Compare local and regional differences in standard of care and management of patients with Primary Mitochondrial Disease
Time frame: 1 year
1 secondary outcome
Compare local and regional differences in genetic testing methodologies for Primary Mitochondrial Disease
Time frame: 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Apr 2019.
- Derived from this study: PubMed 40785393Karaa A, Goldstein A, Cohen BH, Haas RH, Vockley J, Gorman GS, Mancuso M; RePOWER, MMPOWER-3, and MOTOR investigators. RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy. Clin Genet. 2026 Jan;109(1):86-98. doi: 10.1111/cge.70026. Epub 2025 Aug 11.
Related trials for Primary Mitochondrial Disease
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingPhase 3
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD)
Not yet recruitingPhase 1/2
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
Not yet recruitingObservational study
The Precision Mito- Mito Map COMPASS Study
Mitochondrial Diseases, Myalgic Encephalomyelitis Chronic Fatigue Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
33 sites in 9 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Mitochondrial Disease, run by Stealth BioTherapeutics Inc. at 33 sites in 9 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 11 Apr 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 33 sites in United States, Italy, Canada, Australia, Germany and 4 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Assess the relationship of genotype to phenotype in patients with Primary Mitochondrial Disease (time frame: 1 year). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03048617, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Apr 2019.