Mitochondrial DiseasesNCT01370447
EPI-743 for Mitochondrial Respiratory Chain Diseases
A study testing EPI-743 in people with Mitochondrial Diseases, run by PTC Therapeutics at 16 sites in United States.
Trial summary
This study will evaluate the safety and efficacy of EPI-743 in participants with severe mitochondrial respiratory chain diseases who are considered to be within 90 days of end-of-life care. Read more about this study
- Who is it for?
- Ages 1 year and older
- Conditions the study is for
- Mitochondrial Diseases
- What is being tested?
- EPI-743
- Type of treatment
- Pill or oral medicine
- How many people
- Not given
- Where
- 16 sitesUnited States
- Study dates
- Start not givento not given
- Phase
- Expanded access
- 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 1 year and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Participants with genetic diagnosis: Genetically confirmed diagnosis of Inherited mitochondrial respiratory chain disease
- Participants with clinical diagnosis: Diagnosis of inherited mitochondrial disease absent genetic confirmation; Specifically, participants must meet the diagnostic criteria of "definite" or "probable" mitochondrial disease as defined by Bernier et al., 2002
- Deemed by principal investigator to be within 90 days of end-of-life hospice/terminal care
- Male or female age > one year
- Hematocrit within normal range for age group
- Agreement to use contraception if within reproductive years
Show all 12Show fewer
- Participant or participant's guardian able to consent and comply with protocol requirements
- Presence of caregiver to ensure study compliance
- Abstention from use of all pill-form dietary supplements and non-prescribed medications (except as allowed by the investigator)
- Abstention from foods or beverages or bars fortified with Coenzyme Q10, vitamin E, super-fortified "functional" foods or beverages
- Abstention from use of idebenone
- Clinically staged with a Mitochondrial Disease Scale such as the Newcastle Score
Who cannot join
- Allergy to EPI-743, vitamin E or sesame oil
- Clinical history of bleeding or abnormal prothrombin time (PT)/partial thromboplastin time (PTT) (excluding anticoagulation Rx)
- Hepatic insufficiency with liver function tests (LFTs) greater than two times normal
- Renal insufficiency requiring dialysis
- Fat malabsorption syndromes precluding drug absorption
- Any other concurrent inborn errors of metabolism
- Severe end-organ hypo-perfusion syndrome secondary to cardiac failure resulting in lactic acidosis
- Pregnancy
Trial locations and contacts
16 sites in 1 country.
16 sites in 1 country
United States16 sites
Akron Children's Hospital
Akron, Ohio, 44308
Naval Hospital, Bremerton
Bremerton, Washington, 98312
Carolinas Medical Center
Charlotte, North Carolina, 28203
Cleveland Clinic
Cleveland, Ohio, 44195
Emory University
Decatur, Georgia, 30033
Baylor College of Medicine
Houston, Texas, 77030
UTH
Houston, Texas, 77030
UCLA
Los Angeles, California, 90095
CUMC (Columbia University)
New York, New York, 10032
MUSC
North Charleston, South Carolina, 29406
CHOC Children's Clinic
Orange, California, 92868
Lucille Packard Children's Hospital
Palo Alto, California, 94304
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
UCSD
San Diego, California, 92123
Seattle Children's Hospital
Seattle, Washington, 98105
Stanford Children's Health
Stanford, California, 94304
About this study
Official title: Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care
This study will evaluate the safety and efficacy of EPI-743 in participants with severe mitochondrial respiratory chain diseases who are considered to be within 90 days of end-of-life care.
- Conditions
- Mitochondrial Diseases
- Being tested
- EPI-743
- Keywords
- Leigh syndrome, MELAS, Kearns-Sayre, Alper's, Inherited mitochondrial disease, Friedreich's ataxia, POLG1 deficiency
- Medical subject headings
- Mitochondrial Diseases, Leigh Disease, MELAS Syndrome, Friedreich Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
EPI-743Drug
Also called Vincerinone, Vatiquinone
EPI-743 (oral solution [100 mg/mL] or liquid-filled capsules [100 mg or 200 mg]) will be administered per dose and schedule specified in the arm.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jun 2011 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial DiseasesStudies 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
- Expanded access
Sponsor and investigators
- Lead sponsor
- PTC Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Gregory Enns, MB, ChB, Principal investigator, Stanford University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01370447
- Sponsor's protocol ID
- EPI-2009-1
- Status last verified
- Jan 2024
- First submitted
- 7 Jun 2011
- Last updated
- 23 Jan 2024
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care
- ClinicalTrials.gov ID
- NCT01370447
- Acronym / sponsor ID
- EPI-2009-1
- Conditions
- Mitochondrial Diseases
- Keywords
- Leigh syndrome, MELAS, Kearns-Sayre, Alper's, Inherited mitochondrial disease, Friedreich's ataxia, POLG1 deficiency
- Study type
- Expanded access
- Recruitment status
- No Longer Available
- Lead sponsor
- PTC TherapeuticsIndustry (pharma, biotech, devices)
- First posted
- 10 Jun 2011 (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 study will evaluate the safety and efficacy of EPI-743 in participants with severe mitochondrial respiratory chain diseases who are considered to be within 90 days of end-of-life care.
Study design
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (12 listed)
- Participants with genetic diagnosis: Genetically confirmed diagnosis of Inherited mitochondrial respiratory chain disease
- Participants with clinical diagnosis: Diagnosis of inherited mitochondrial disease absent genetic confirmation; Specifically, participants must meet the diagnostic criteria of "definite" or "probable" mitochondrial disease as defined by Bernier et al., 2002
- Deemed by principal investigator to be within 90 days of end-of-life hospice/terminal care
- Male or female age > one year
- Hematocrit within normal range for age group
Key exclusion criteria (8 listed)
- Allergy to EPI-743, vitamin E or sesame oil
- Clinical history of bleeding or abnormal prothrombin time (PT)/partial thromboplastin time (PTT) (excluding anticoagulation Rx)
- Hepatic insufficiency with liver function tests (LFTs) greater than two times normal
- Renal insufficiency requiring dialysis
- Fat malabsorption syndromes precluding drug absorption
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| EPI-743Also: Vincerinone, VatiquinoneEPI-743 (oral solution [100 mg/mL] or liquid-filled capsules [100 mg or 200 mg]) will be administered per dose and schedule specified in the arm. | Drug | – |
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Jan 2024.
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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.
Gregory Enns, MB, ChB principal investigator
Stanford University
16 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing EPI-743 in people with Mitochondrial Diseases, run by PTC Therapeutics at 16 sites in United States.
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 12 inclusion and 8 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: status not confirmed, as of the sponsor's last update on 23 Jan 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 16 sites in United States. 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?
Results are not available in the source record.
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.
Where can I read the original study information?
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 23 Jan 2024.