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| ID | Type | Description | Link |
|---|---|---|---|
| SPIFA-101 | Other Identifier | Stealth Biotherapeutics, Inc. |
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| Name | Class |
|---|---|
| Friedreich's Ataxia Research Alliance | OTHER |
| Stealth BioTherapeutics Inc. | INDUSTRY |
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To evaluate the safety, tolerability, and activity of Elamipretide in treating vision loss in Friedreich Ataxia (FRDA).
To evaluate the effect of high dose (40-60mg) versus low dose (20-30mg) Elamipretide on high contrast visual acuity in FRDA compared to baseline at 52 weeks with the option to extend for an additional 52 weeks if there are objective signs of clinical improvement on primary or secondary endpoints. The interim analysis will be based on data from a 36-week visit. For subjects worse than 20/800 at study start, they will be followed using low vision alternatives only.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Low Dose (20-30mg) | Experimental | Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (20-30 mg) for 52 weeks |
|
| High Dose (40-60 mg) | Experimental | Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (40-60 mg) for 52 weeks |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Elamipretide | Drug | Elamipretide is a tetra peptide with limited blood brain barrier penetration being developed for use in a variety of mitochondrial disorders, including FRDA, mitochondrial myopathy and Barth Syndrome. |
| Measure | Description | Time Frame |
|---|---|---|
| Change in High Contrast Visual Acuity | Change in High Contrast Visual Acuity will be measured by assessing the differences in the number of letters read (binocular) on the ETDRS High Contrast Visual Acuity Chart between groups (low dose and high dose). | Baseline to 52 weeks |
| Measure | Description | Time Frame |
|---|---|---|
| Change in Low Contrast Visual Acuity | Change in Low Contrast Visual Acuity will be measured by assessing the differences in the number of letters read (binocular) on the ETDRS Low Contrast Visual Acuity Chart between groups (low dose and high dose). | Baseline to 52 weeks |
| Change in Low Luminescence Visual Activity |
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Inclusion Criteria:
Genetically confirmed FRDA (point mutations allowed).
Age >16 years.
Disease onset before 18 years of age.
If female, the subject is not pregnant or lactating or intending to become pregnant before, during, or within 30 days after the last dose of study drug. Female subjects of child-bearing potential must have a negative serum pregnancy test result at Screening, a negative urine pregnancy test result at Baseline.
All subjects must agree to use a reliable method of contraception throughout the study and for 30 days after the last dose of study drug. Male subjects should not father a baby during the study or for at least 30 days after the last dose of study drug.
All concomitant medications (including over-the-counter medications), vitamins, and supplements must be at stable doses for 30 days prior to study entry and kept stable throughout the study to the best of their ability.
Visual acuity (VA) worse than 20/40 (binocular) on the basis of FRDA. Must not be correctable by refraction, or subjects must have sufficient physical exam findings of optic neuropathy (funduscopic, visual fields, or retinal ganglion cell loss) to justify the primary diagnosis of FRDA related optic neuropathy
Or
Ejection Fraction (EF) less than 50% at last evaluation (within 1 year before screening), with a history consistent with cardiomyopathy from FRDA, and VA 20/25- 20/40.
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| David Lynch, MD, PhD | Children's Hospital of Philadelphia | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital of Philadelphia - Neurology | Philadelphia | Pennsylvania | 19104 | United States |
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Of the 20 enrolled participants, 4 subjects screen failed and did not meet the study inclusion criteria. Of the 16 subjects who received treatment and 8 subjects withdrew after consenting and starting treatment from the study. 8 subjects completed all study visits.
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| ID | Title | Description |
|---|---|---|
| FG000 | Low Dose (20-30mg) | Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (20-30 mg) for 52 weeks Elamipretide: Elamipretide is a tetra peptide with limited blood brain barrier penetration being developed for use in a variety of mitochondrial disorders, including FRDA, mitochondrial myopathy and Barth Syndrome. |
| FG001 | High Dose (40-60 mg) | Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (40-60 mg) for 52 weeks Elamipretide: Elamipretide is a tetra peptide with limited blood brain barrier penetration being developed for use in a variety of mitochondrial disorders, including FRDA, mitochondrial myopathy and Barth Syndrome. |
| Title | Milestones | Reasons Not Completed | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
|
Of the 20 enrolled participants, 4 subjects screen failed and did not meet the study inclusion criteria. Of the 16 subjects who received treatment and 8 subjects withdrew after consenting and starting treatment from the study. 8 subjects completed all study visits.
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| ID | Title | Description |
|---|---|---|
| BG000 | Low Dose (20-30mg) | Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (20-30 mg) for 52 weeks Elamipretide: Elamipretide is a tetra peptide with limited blood brain barrier penetration being developed for use in a variety of mitochondrial disorders, including FRDA, mitochondrial myopathy and Barth Syndrome. |
| BG001 |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Customized | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Change in High Contrast Visual Acuity | Change in High Contrast Visual Acuity will be measured by assessing the differences in the number of letters read (binocular) on the ETDRS High Contrast Visual Acuity Chart between groups (low dose and high dose). | 2 subjects in low dose and 1 subject in the high dose did not complete Week 52 study visit | Posted | Median | Inter-Quartile Range | Number of Letters Read on a Vision Board | Baseline to 52 weeks |
|
AE's were assessed for approximately 104 weeks (2 years).
The same subject reported both the pneumonia and pulmonary embolism SAEs.
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Low Dose (20-30mg) | Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (20-30 mg) for 52 weeks Elamipretide: Elamipretide is a tetra peptide with limited blood brain barrier penetration being developed for use in a variety of mitochondrial disorders, including FRDA, mitochondrial myopathy and Barth Syndrome. |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Aspiration Pneumonia | Respiratory, thoracic and mediastinal disorders | Non-systematic Assessment |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Injection Site Reaction: Pain, Tenderness, or Burning | Skin and subcutaneous tissue disorders | Non-systematic Assessment |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. David Lynch | Children's Hospital of Philadelphia | 215-590-2242 | lynch@chop.edu |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP | Yes | Yes | No | Study Protocol and Statistical Analysis Plan | Mar 23, 2023 | Jun 12, 2025 | Prot_SAP_000.pdf |
| ICF | No | No | Yes | Informed Consent Form | Jul 17, 2024 | Jun 12, 2025 | ICF_001.pdf |
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| ID | Term |
|---|---|
| D005621 | Friedreich Ataxia |
| ID | Term |
|---|---|
| D013132 | Spinocerebellar Degenerations |
| D002526 | Cerebellar Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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| ID | Term |
|---|---|
| C506540 | arginyl-2,'6'-dimethyltyrosyl-lysyl-phenylalaninamide |
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|
Change in Low Luminescence Visual Acuity will be measured by assessing the difference in the number of letters read (binocular) on the ETDRS High Contrast Visual Acuity Chart with Low Luminescence Filter between groups (low dose and high dose). |
| Baseline to 52 weeks |
| Change in Retinal Nerve Fiber Layer by Optical Coherence Tomography (OCT) | The change in thickness of the retinal nerve fiber layer between groups (low dose and high dose) will be measured using the OCT, a non-invasive imaging test that uses light waves to take cross-section pictures of the retina. | Baseline to 52 weeks |
| Change in Visual Quality of Life by Visual Functioning Questionnaire (VFQ) | The VFQ is a 25-item patient reported outcome on visual symptomology to assess change in patient self-report of visual ability over time compared to baseline between groups (low dose and high dose). The VFQ-25 consists of a base set of 25 vision-targeted questions representing 11 vision-related constructs, plus an additional single-item general health rating question. Each item is then converted to a 0 to 100 scale. The summary statistic is the difference in mean values from Baseline to Week 52. A negative value represents a worsening over time and a positive value represents improvement. | Baseline to 52 weeks |
| Change in Cardiac Strain | The change in cardiac strain (dL/L) in each dimension per cardiac cycle between groups (low dose and high dose) is measured by speckle tracking on imaging. | Baseline to 36 weeks |
| Change in Cardiac Fibrosis | The change in cardiac fibrosis over time by T1 mapping using late gadolinium enhancement between groups (low dose and high dose). | Baseline to 36 weeks |
| Change Cardiac Stroke Volume | The change in stroke volume will be calculated by Ejection Fraction x Ventricular Volume x Pulse Rate, over time between groups (low dose and high dose). | Baseline to 36 weeks |
| Adverse Event |
|
| High Dose (40-60 mg) |
Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (40-60 mg) for 52 weeks Elamipretide: Elamipretide is a tetra peptide with limited blood brain barrier penetration being developed for use in a variety of mitochondrial disorders, including FRDA, mitochondrial myopathy and Barth Syndrome. |
| BG002 | Total | Total of all reporting groups |
| Participants |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Ethnicity (NIH/OMB) | Count of Participants | Participants |
|
| Race (NIH/OMB) | Count of Participants | Participants |
|
| OG001 |
| High Dose (40-60 mg) |
Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (40-60 mg) for 52 weeks Elamipretide: Elamipretide is a tetra peptide with limited blood brain barrier penetration being developed for use in a variety of mitochondrial disorders, including FRDA, mitochondrial myopathy and Barth Syndrome. |
|
|
| Secondary | Change in Low Contrast Visual Acuity | Change in Low Contrast Visual Acuity will be measured by assessing the differences in the number of letters read (binocular) on the ETDRS Low Contrast Visual Acuity Chart between groups (low dose and high dose). | All subjects in both low dose and high dose were unable to read a single letter on the low contrast vision board | Posted | Median | Inter-Quartile Range | Number of Letters Read on a Vision Board | Baseline to 52 weeks |
|
|
|
| Secondary | Change in Low Luminescence Visual Activity | Change in Low Luminescence Visual Acuity will be measured by assessing the difference in the number of letters read (binocular) on the ETDRS High Contrast Visual Acuity Chart with Low Luminescence Filter between groups (low dose and high dose). | 2 subjects in low dose and 1 subject in the high dose did not complete Week 52 study visit | Posted | Median | Inter-Quartile Range | Number of Letters Read on a Vision Board | Baseline to 52 weeks |
|
|
|
| Secondary | Change in Retinal Nerve Fiber Layer by Optical Coherence Tomography (OCT) | The change in thickness of the retinal nerve fiber layer between groups (low dose and high dose) will be measured using the OCT, a non-invasive imaging test that uses light waves to take cross-section pictures of the retina. | 6 low-dose and 7 high-dose subjects attempted to complete this procedure. However, due to disease progression (abnormal eye movements) and visual impairment (unable to focus on visual target) subjects were unable to perform the OCT exam in both low dose and high dose, thus resulting in poor quality images that were unable to be analyzed and will never be analyzed in the future. | Posted | Median | Inter-Quartile Range | micron | Baseline to 52 weeks |
|
|
| Secondary | Change in Visual Quality of Life by Visual Functioning Questionnaire (VFQ) | The VFQ is a 25-item patient reported outcome on visual symptomology to assess change in patient self-report of visual ability over time compared to baseline between groups (low dose and high dose). The VFQ-25 consists of a base set of 25 vision-targeted questions representing 11 vision-related constructs, plus an additional single-item general health rating question. Each item is then converted to a 0 to 100 scale. The summary statistic is the difference in mean values from Baseline to Week 52. A negative value represents a worsening over time and a positive value represents improvement. | 2 subjects in low dose and 1 subject in the high dose did not complete Week 52 study visit | Posted | Mean | Standard Deviation | Units on a scale | Baseline to 52 weeks |
|
|
|
| Secondary | Change in Cardiac Strain | The change in cardiac strain (dL/L) in each dimension per cardiac cycle between groups (low dose and high dose) is measured by speckle tracking on imaging. | Due to insufficient number of high quality reproducible scans we were unable to conduct a systematic analysis. The speckle tracking needed for this analysis was not done because reproducible scans were unobtainable in individuals with advanced FA due to inability to lie still for sufficient amounts of time and will never be analyzed in the future. | Posted | Mean | Standard Deviation | Baseline to 36 weeks |
|
|
| Secondary | Change in Cardiac Fibrosis | The change in cardiac fibrosis over time by T1 mapping using late gadolinium enhancement between groups (low dose and high dose). | Due to insufficient number of high quality reproducible scans we were unable to conduct a systematic analysis. The T1 mapping using late gadolinium enhancement needed for this analysis was not done because reproducible scans were unobtainable in individuals with advanced FA due to inability to lie still for sufficient amounts of time and will never be analyzed in the future. | Posted | Baseline to 36 weeks |
|
|
| Secondary | Change Cardiac Stroke Volume | The change in stroke volume will be calculated by Ejection Fraction x Ventricular Volume x Pulse Rate, over time between groups (low dose and high dose). | 2 subjects in low dose and 2 subject in the high dose did not complete cardiac testing at the Week 36 study visit | Posted | Mean | Standard Deviation | percentage of change in stroke volume | Baseline to 36 weeks |
|
|
|
| 0 |
| 8 |
| 2 |
| 8 |
| 8 |
| 8 |
| EG001 | High Dose (40-60 mg) | Subjects will receive daily subcutaneous (SC) dosing of Elamipretide (40-60 mg) for 52 weeks Elamipretide: Elamipretide is a tetra peptide with limited blood brain barrier penetration being developed for use in a variety of mitochondrial disorders, including FRDA, mitochondrial myopathy and Barth Syndrome. | 0 | 8 | 2 | 8 | 8 | 8 |
| Acute Perforated Appendicitis | Surgical and medical procedures | Non-systematic Assessment |
|
| Vasovagal Episode | Nervous system disorders | Non-systematic Assessment |
|
| Pneumonia | Respiratory, thoracic and mediastinal disorders | Non-systematic Assessment |
|
| Pulmonary Embolism | Respiratory, thoracic and mediastinal disorders | Non-systematic Assessment |
|
| Injection Site Reaction: Erythema or Redness | Skin and subcutaneous tissue disorders | Non-systematic Assessment |
|
| Injection Site Reaction: Induration or Swelling | Skin and subcutaneous tissue disorders | Non-systematic Assessment |
|
| Injection Site Reaction: Pruritus or Itching | Skin and subcutaneous tissue disorders | Non-systematic Assessment |
|
| Injection Site Reaction: Urticaria or Hives | Skin and subcutaneous tissue disorders | Non-systematic Assessment |
|
| Injection Site Reaction: Bruising | Skin and subcutaneous tissue disorders | Non-systematic Assessment |
|
| Injection Site Reaction: Blister | Skin and subcutaneous tissue disorders | Non-systematic Assessment |
|
| Diarrhea | Gastrointestinal disorders | Non-systematic Assessment |
|
| Increased Bowel Frequency | Gastrointestinal disorders | Non-systematic Assessment |
|
| Viral Gastroenteritis | Gastrointestinal disorders | Non-systematic Assessment |
|
| Increased Appetite | Gastrointestinal disorders | Non-systematic Assessment |
|
| Weight Gain (>10% of Body Weight) | Gastrointestinal disorders | Non-systematic Assessment |
|
| Weight Loss (<10% of Body Weight) | Gastrointestinal disorders | Non-systematic Assessment |
|
| Hematochezia | Gastrointestinal disorders | Non-systematic Assessment |
|
| Edema | Vascular disorders | Non-systematic Assessment |
|
| Mucocele | Neoplasms benign, malignant and unspecified (incl cysts and polyps) | Non-systematic Assessment |
|
| Increased Fatigue | Musculoskeletal and connective tissue disorders | Non-systematic Assessment |
|
| Sore Throat | Infections and infestations | Non-systematic Assessment |
|
| Fever | Immune system disorders | Non-systematic Assessment |
|
| Urinary Tract Infection | Renal and urinary disorders | Non-systematic Assessment |
|
| Viral Rhinitis or Upper Respiratory Infection | Respiratory, thoracic and mediastinal disorders | Non-systematic Assessment |
|
| Altered Mental Status | Psychiatric disorders | Non-systematic Assessment |
|
| COVID-19 | Infections and infestations | Non-systematic Assessment |
|
| Atrial Fibrillation | Cardiac disorders | Non-systematic Assessment |
|
| Tachycardia | Cardiac disorders | Non-systematic Assessment |
|
| Black Eye | Injury, poisoning and procedural complications | Non-systematic Assessment |
|
| Chipped Teeth | Injury, poisoning and procedural complications | Non-systematic Assessment |
|
| Ear Infection | Ear and labyrinth disorders | Non-systematic Assessment |
|
| Hyperglycemia | Endocrine disorders | Non-systematic Assessment |
|
| Insomnia | Psychiatric disorders | Non-systematic Assessment |
|
| Lactic Acidosis | Metabolism and nutrition disorders | Non-systematic Assessment |
|
| Metallic Dysgeusia | Nervous system disorders | Non-systematic Assessment |
|
| Photosensitivity or Photodermatitis | Skin and subcutaneous tissue disorders | Non-systematic Assessment |
|
| Syncope | Nervous system disorders | Non-systematic Assessment |
|
| Blepharitis | Eye disorders | Non-systematic Assessment |
|
| Blisters on Feet | Skin and subcutaneous tissue disorders | Non-systematic Assessment |
|
| Leg Infection | Infections and infestations | Non-systematic Assessment |
|
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| D009422 | Nervous System Diseases |
| D013118 | Spinal Cord Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D028361 | Mitochondrial Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |