Inherited Mitochondrial Disease, Including Leigh SyndromePhase 2MITO-001NCT02023866

Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease

A Phase 2 study testing Cysteamine Bitartrate in people with Inherited Mitochondrial Disease, Including Leigh Syndrome, run by Amgen at 5 sites in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record

Search all trials

Trial summary

To evaluate safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) administered at a target maintenance dose of 1.3 g/m²/day in two divided doses, every 12 hours, for up to 6 months in patients with inherited mitochondrial disease. Read more about this study

Who is it for?: Ages 6 to 17 years
Conditions the study is for: Inherited Mitochondrial Disease, Including Leigh Syndrome
What is being tested?: Cysteamine Bitartrate
Type of treatment: Pill or oral medicine
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 36 participants
Where: 5 sitesUnited States
Study dates: May 2014to Oct 2016
Phase: Phase 2
Are there results?: Yes, posted in the registrySummary in the doctors' view

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 6 to 17 years
All sexes
No healthy volunteers
Child

Who may be able to join

Age ≥ 6 years and < 18 years
Body weight ≥ 5 kg
Documented (genetically confirmed known mutation, i.e. no variants of uncertain significance) diagnosis of inherited mitochondrial disease other than Friedreich's ataxia (FRDA)
Moderate disease severity based on Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) score, with a score between 15 to 45 inclusive [Leber's Hereditary Optic Neuropathy (LHON) subjects are exempt of this inclusion criteria], if approved by the sponsor.
For patients regularly taking dietary supplements such as creatinine, alpha-lipoic acid, coenzyme Q10 (CoQ10), vitamin B, carnitine, etc. they have to have been taking them for at least 3 months pre-study and will agree to keep these the same throughout the study (from the Screening Visit to Study Exit)
With respect to concomitant medications, the subject must:

Show all 19Show fewer

Be willing to abstain from initiating dietary supplements and non-prescribed medications, except as allowed by the Investigator, throughout the study (from the Screening Visit to Study Exit);
Be on a stable dose of medications prescribed for seizure management and prevention. Stable dose in this context means unchanged for at least 30 days prior to the Screening Visit.
Willing and able to comply with study drug dosing requirements, i.e. ingest the RP103 capsules intact, or sprinkled in liquid or soft food, or using a g-tube
Sexually active female subjects of childbearing potential (i.e., not surgically sterile [tubal ligation, hysterectomy, or bilateral oophorectomy]) must agree to utilize two of the following acceptable forms of contraception throughout the study (from the Screening Visit to Study Exit):
Hormonal contraception: birth control pills, injection, patch, vaginal ring or implant;
Condom or diaphragm, with spermicide;
Intrauterine device (IUD)
Sterile male partner (vasectomy performed at least 6 months prior to the study).
Subjects's legally authorized representative must provide written informed consent; Subject must provide assent, if required by local/institutional requirements
Have mitochondrial myopathy as evidenced by one or more of the following criteria:
Weakness consistent with myopathy (e.g. accompanied by muscle wasting and/or absence of neuropathy) on physical exam
OR documented myopathy on the basis of muscle biopsy consistent with mitochondrial myopathy disease
OR weakness and/or progressive exercise intolerance (in which modest exercise typically provokes heaviness, weakness, aching of active muscles, or tachycardia). Weakness should be due to myopathy and not neuropathy or other causes as deemed by investigator

Who cannot join

Documented diagnosis of concurrent inborn errors of metabolism
Non-elective hospitalization related to mitochondrial disease or direct complication of disease within 60 days prior to the Screening Visit.
Platelet count, lymphocyte count or hemoglobin below the lower limit of normal (LLN) at the Screening Visit
Hepatic insufficiency with liver enzyme tests (alkaline phosphatase, aspartate aminotransferase [AST] or alanine aminotransferase [ALT]) greater than 2.5 times the upper limit of normal (ULN) at the Screening Visit
Bilirubin > 1.2 g/dL at the Screening Visit
Inability to complete the elements of the study, e.g., coma, hemodynamic instability or requiring continuous ventilator support.

Show all 18Show fewer

Malabsorption requiring total parenteral nutrition (TPN), chronic diarrhea, bouts of pseudo obstruction
Severe end-organ hypo-perfusion syndrome secondary to cardiac failure resulting in lactic acidosis
Patients with suspected elevated intracranial pressure, pseudotumor cerebri (PTC) and/or papilledema
Severe gastrointestinal disease including gastroparesis
History of angina, myocardial infarction, or cardiac surgery within 2 years prior to the Screening Visit
Any clinically significant electrocardiogram (ECG), including dysrhythmia, or clinically significant abnormal laboratory finding not already listed above at the Screening Visit
History of drug or alcohol abuse
History of pancreatitis
Participated in an investigational drug trial within 30 days or, within 90 days for a biologic, device, or surgical treatment, for inherited mitochondrial diseases prior to the Screening Visit
Known or suspected hypersensitivity to cysteamine and penicillamine
Female subjects who are nursing, planning a pregnancy, known or suspected to be pregnant, or with a positive serum pregnancy test at the Screening Visit
Subject's who, in the opinion of the Investigator, are not able or willing to comply with the protocol.

Trial locations and contacts

5 sites in 1 country.

City, postcode or hospital

5 sites in 1 country

United States5 sites

Akron Children's Hospital
Akron, Ohio, 44308
Baylor College of Medicine
Houston, Texas, 77030
University of Utah, Division of Medical Genetics
Salt Lake City, Utah, 84132
University of California at San Diego (UCSD)
San Diego, California, 92093-0935
Stanford University
Stanford, California, 94305

Other trials in United States

About this study

Official title: An Open-Label, Dose-Escalating Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease

Read the detailed description

This is an open-label, dose-escalation study to assess the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of cysteamine bitartrate delayed-release capsules (RP103) for treatment of children with inherited mitochondrial disease.

Prior to treatment, patients will undergo a Screening Visit. If eligible, each participant will return for the Day 1 study visit and begin dosing. Every 2 weeks over the subsequent 8 weeks, participants will alternate between returning to the clinic for detailed assessments (Weeks 4 and 8) and receiving a telephone call from the Investigator team to assess safety and RP103 dose (Weeks 2 and 6) and the potential need for an immediate unscheduled study visit. Thereafter, participants will continue to return to the clinic every 4 weeks for detailed assessments at Weeks 12, 16, 20, and 24 (the Study Exit visit).

The Study Exit visit will occur at Week 24, and participants will be offered the opportunity to continue on to an extension study (RP103-MITO-002 [NCT02473445]) until results of the present study are known.

Study with completed results acquired from Horizon in 2024.

Conditions: Inherited Mitochondrial Disease, Including Leigh Syndrome
Being tested: Cysteamine Bitartrate
Keywords: Leigh Syndrome, Leber's hereditary optic neuropathy, myoclonic epilepsy, mitochondrial encephalomyopathy, Kearn-Sayre syndrome, POLG-related disorders, Neurogastrointestinal encephalopathy
Medical subject headings: Leigh Disease, Optic Atrophy, Hereditary, Leber, Epilepsies, Myoclonic, Mitochondrial Encephalomyopathies, Ophthalmoplegia, Chronic Progressive External

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Cysteamine BitartrateDrug
Also called RP103
Cysteamine Bitartrate Delayed-release capsules

Study groups in NCT02023866
Study group	Role	What they receive
Cysteamine Bitartrate Delayed-release	Experimental	Cysteamine bitartrate delayed-release capsules were administered twice daily following a dose-escalation design with a progressive weekly dose increase over the first 6 weeks. The starting dose was 0.2 g/m²/day, up to a maximum dose of 1.3 g/m²/day. Participants remained on their highest tolerated dose until Week 24. Receives: Drug: Cysteamine Bitartrate

What is being measured

The primary outcome is the main question the study is designed to answer.

Change From Baseline in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Sections I-IV
The NPMDS evaluates the progression of mitochondrial disease in pediatric patients in 4 domains:
I - Current Function (vision, hearing, communication, feeding, and mobility) with scores ranging from 0 to 21; II -System Specific Involvement (seizures, encephalopathy, bleeding diathesis or coagulation defects, gastrointestinal, endocrine, respiratory, cardiovascular, renal, liver, and blood) with scores ranging from 0 to 30.
III - Current Clinical Assessment (growth and development over past 6 months, vision, strabismus and eye movement, myopathy, ataxia, pyramidal, extrapyramidal, and neuropathy) with scores ranging from 0 to 28; and IV - Quality of Life with scores ranging from 0 to 25. For sections I-III, higher scores reflect more severe disease. For Section IV, a higher score reflects a lower quality of life.
Measured: Baseline through Week 24

Secondary outcomes (9)

Change From Baseline in Glutathione
Measured: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Glutathione Disulfide
Measured: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Lactic Acid
Measured: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in 6 Minute Walk Test
The investigator selected the two most preeminent symptoms for each participant during the screening visit from the following: Myopathy, dystonia, ataxia, retarded motor development, reduced activities of daily living, and vision. The 2 symptoms selected for each participant were then assessed at each subsequent study visit.
Myopathy was assessed using the 6 minute walk test, which measures the distance walked in a 6 minute walk test.
Measured: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Jamar Dynamometer Hand Strength
The investigator selected the two most preeminent symptoms for each participant during the screening visit from the following: myopathy, dystonia, ataxia, retarded motor development, reduced activities of daily living, and vision. The 2 symptoms selected for each participant were then assessed at each subsequent study visit.
Myopathy was assessed using standard grip strength evaluation, which measures hand strength in both hands using a Jamar dynamometer.
Measured: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Barry-Albright Dystonia Scale Total Score
The investigator selected the two most preeminent symptoms for each participant during the screening visit from the following: myopathy, dystonia, ataxia, retarded motor development, reduced activities of daily living, and vision. The 2 symptoms selected for each participant were then assessed at each subsequent study visit.
Dystonia symptoms were assessed using the Barry-Albright Dystonia Scale for Dystonia. Participants were assessed for dystonia in each of the following regions: eyes, mouth, neck, trunk, and each upper and lower extremity (8 body regions) on a scale from 0 (absent) to 4 (severe symptoms). The individual scores were summed to calculate the total score which ranges from 0 (dystonia absent) to 32 (severe dystonia).
Measured: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Friedreich Ataxia Rating Scale
The investigator selected the two most preeminent symptoms for each participant during the screening visit from the following: myopathy, dystonia, ataxia, retarded motor development, reduced activities of daily living, and vision. The 2 symptoms selected for each participant were then assessed at each subsequent study visit.
Ataxia was assessed using the Friedreich Ataxia Rating Scale (FARS). FARS comprises a functional ataxia staging score of overall mobility (score 0 to 6), an assessment of the activities of daily living (ADL) (score 0 to 36) and a neurological assessment (score from 0 to 117) which is composed of bulbar (score 0-11), upper limb (score 0- 36) and lower limb (score 0-16), peripheral nerve (score 0-26) and upright stability/gait (score 0-28). The scores were summed to calculate the total score which ranges from 0 to 159. A higher score indicates a greater level of disability.
Measured: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Gross Motor Function
The investigator selected the two most preeminent symptoms for each participant during the screening visit from the following: myopathy, dystonia, ataxia, retarded motor development, reduced activities of daily living, and vision. The 2 symptoms selected for each participant were then assessed at each subsequent study visit.
Retarded motor development was assessed using the Gross Motor Function Measure (GMFM)-88 which consists of 88 items scored on a scale of 0 to 3:
0: Does not initiate the task;
1. Initiates the task (completes < 10%);
2. Partially completes the task (10 to 99%);
3. Completes the task (100%).
The 88 items are grouped into five dimensions: 1) lying and rolling, 2) sitting, 3) crawling and kneeling, 4) standing, and 5) walking, running and jumping. Scores are expressed as a percentage of the maximum score for that dimension. The total score is the average of the 5 the percentage scores where higher scores indicate better performance.
Measured: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Modified Lansky Play Performance Scale
The investigator selected the 2 most preeminent symptoms for each participant during the screening visit from the following: myopathy, dystonia, ataxia, retarded motor development, reduced activities of daily living, and vision. The 2 symptoms were assessed at each subsequent study visit.
Reduced activities of daily living was assessed using the modified Lansky Play Performance Scale, completed by parents based on their child's activity in the past week, where 100=fully active; 90=minor restrictions in strenuous physical activity; 80=active, gets tired more quickly; 70=greater restriction of play, less time spent in play activity; 60=up and around, active play minimal; quieter activities; 50=lying around much of the day; no active playing, all quiet play and activities; 40=mainly in bed; quiet activities; 30=bedbound; needs assistance even for quiet play; 20=sleeps often; play limited to very passive activities; 10=doesn't play or get out of bed; 5=unresponsive 0=dead
Measured: Baseline and Weeks 4, 8, 12, 16, 20, 24

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

May 2014Oct 2016

First posted30 Dec 2013 (estimated)
Study startMay 2014
Primary completionOct 2016
Study completionOct 2016

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
Publications (4)Papers the sponsor has linked to this study.
Other trials for Inherited Mitochondrial Disease, Including Leigh SyndromeStudies of the same condition, open and under way.
More trials run by AmgenThe sponsor's other registered studies.
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: Interventional
Phase: Phase 2
Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Masking: None (open label)
Enrolment: 36 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT02023866
Sponsor's protocol ID: RP103-MITO-001
Acronym: MITO-001
Status last verified: Dec 2024
First submitted: 17 Dec 2013
Last updated: 27 Dec 2024
Results posted: Yes, on ClinicalTrials.gov
Data monitoring committee: No

Publications

Bousquet M, Gibrat C, Ouellet M, Rouillard C, Calon F, Cicchetti F. Cystamine metabolism and brain transport properties: clinical implications for neurodegenerative diseases. J Neurochem. 2010 Sep;114(6):1651-8. doi: 10.1111/j.1471-4159.2010.06874.x. Epub 2010 Aug 19.
PubMed 20569301
Salmi H, Leonard JV, Rahman S, Lapatto R. Plasma thiol status is altered in children with mitochondrial diseases. Scand J Clin Lab Invest. 2012 Apr;72(2):152-7. doi: 10.3109/00365513.2011.646299. Epub 2012 Jan 2.
PubMed 22208644
Maher P, Lewerenz J, Lozano C, Torres JL. A novel approach to enhancing cellular glutathione levels. J Neurochem. 2008 Nov;107(3):690-700. doi: 10.1111/j.1471-4159.2008.05620.x. Epub 2008 Aug 12.
PubMed 18702664
Mancuso M, Orsucci D, Logerfo A, Rocchi A, Petrozzi L, Nesti C, Galetta F, Santoro G, Murri L, Siciliano G. Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation. J Neurol. 2010 May;257(5):774-81. doi: 10.1007/s00415-009-5409-7. Epub 2009 Dec 4.
PubMed 19960200

Study at a glance

From the registry record, last updated by the sponsor on 27 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: An Open-Label, Dose-Escalating Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease
ClinicalTrials.gov ID: NCT02023866
Acronym / sponsor ID: MITO-001 / RP103-MITO-001
Conditions: Inherited Mitochondrial Disease, Including Leigh Syndrome
Keywords: Leigh Syndrome, Leber's hereditary optic neuropathy, myoclonic epilepsy, mitochondrial encephalomyopathy, Kearn-Sayre syndrome, POLG-related disorders, Neurogastrointestinal encephalopathy
Phase: Phase 2
Study type: Interventional
Recruitment status: Completed
Enrolment: 36 participants (actual)
Lead sponsor: AmgenIndustry (pharma, biotech, devices)
Study start: May 2014 (actual)
Primary completion: Oct 2016 (actual)
Study completion: Oct 2016 (actual)
First posted: 30 Dec 2013 (estimated)
Results: Posted 13 Nov 2017

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Detailed description

Study with completed results acquired from Horizon in 2024.

Study design

Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Masking: None (open label)
Number of arms: 1

Arm	Type	Receives
Cysteamine Bitartrate Delayed-release	Experimental	Drug: Cysteamine BitartrateCysteamine bitartrate delayed-release capsules were administered twice daily following a dose-escalation design with a progressive weekly dose increase over the first 6 weeks. The starting dose was 0.2 g/m²/day, up to a maximum dose of 1.3 g/m²/day. Participants remained on their highest tolerated dose until Week 24.

Who may qualify

Ages: 6 to 17 years
Sex: All
Healthy volunteers: Not accepted
Age groups: Child

Key inclusion criteria (19 listed)

Age ≥ 6 years and < 18 years
Body weight ≥ 5 kg
Documented (genetically confirmed known mutation, i.e. no variants of uncertain significance) diagnosis of inherited mitochondrial disease other than Friedreich's ataxia (FRDA)
Moderate disease severity based on Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) score, with a score between 15 to 45 inclusive [Leber's Hereditary Optic Neuropathy (LHON) subjects are exempt of this inclusion criteria], if approved by the sponsor.
For patients regularly taking dietary supplements such as creatinine, alpha-lipoic acid, coenzyme Q10 (CoQ10), vitamin B, carnitine, etc. they have to have been taking them for at least 3 months pre-study and will agree to keep these the same throughout the study (from the Screening Visit to Study Exit)

Key exclusion criteria (18 listed)

Documented diagnosis of concurrent inborn errors of metabolism
Non-elective hospitalization related to mitochondrial disease or direct complication of disease within 60 days prior to the Screening Visit.
Platelet count, lymphocyte count or hemoglobin below the lower limit of normal (LLN) at the Screening Visit
Hepatic insufficiency with liver enzyme tests (alkaline phosphatase, aspartate aminotransferase [AST] or alanine aminotransferase [ALT]) greater than 2.5 times the upper limit of normal (ULN) at the Screening Visit
Bilirubin > 1.2 g/dL at the Screening Visit

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
Cysteamine BitartrateAlso: RP103Cysteamine Bitartrate Delayed-release capsules	Drug	Cysteamine Bitartrate Delayed-release

Primary outcome

Change From Baseline in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Sections I-IV
Time frame: Baseline through Week 24
The NPMDS evaluates the progression of mitochondrial disease in pediatric patients in 4 domains: I - Current Function (vision, hearing, communication, feeding, and mobility) with scores ranging from 0 to 21; II -System Specific Involvement (seizures, encephalopathy, bleeding diathesis or coagulation defects, gastrointestinal, endocrine, respiratory, cardiovascular, renal, liver, and blood) with scores ranging from 0 to 30. III - Current Clinical Assessment (growth and development over past 6 months, vision, strabismus and eye movement, myopathy, ataxia, pyramidal, extrapyramidal, and neuropathy) with scores ranging from 0 to 28; and IV - Quality of Life with scores ranging from 0 to 25. For sections I-III, higher scores reflect more severe disease. For Section IV, a higher score reflects a lower quality of life.

9 secondary outcomes

Change From Baseline in Glutathione
Time frame: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Glutathione Disulfide
Time frame: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Lactic Acid
Time frame: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in 6 Minute Walk Test
Time frame: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Jamar Dynamometer Hand Strength
Time frame: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Barry-Albright Dystonia Scale Total Score
Time frame: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Friedreich Ataxia Rating Scale
Time frame: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Gross Motor Function
Time frame: Baseline and Weeks 4, 8, 12, 16, 20, 24
Change From Baseline in Modified Lansky Play Performance Scale
Time frame: Baseline and Weeks 4, 8, 12, 16, 20, 24

Results and safety

Results posted to the registry on 13 Nov 2017, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
Cysteamine Bitartrate Delayed-release	36	30

Primary outcome: Change From Baseline in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Sections I-IV

Time frame: Baseline through Week 24. Mean (Standard Deviation). Unit: units on a scale

Measure	Cysteamine Bitartrate Delayed-release n = 18
Section I	-0.3 (0.7)
Section II	0.1 (1.1)
Section III	-0.6 (1.2)
Section IV	0.0 (4.0)

Cysteamine Bitartrate Delayed-release: p = 0.1875, Wilcoxon Signed Rank
Cysteamine Bitartrate Delayed-release: p = 1.0000, Wilcoxin Signed Rank
Cysteamine Bitartrate Delayed-release: p = 0.0781, Wilcoxin Signed Rank

Population analysed: Completers Analysis Set included all participants who received at least one dose of study drug (RP103) with at least one post-baseline NPMDS assessment and an evaluable Week 24 NPMDS assessment within the protocol specified window.

9 secondary outcomes are reported in the full results.

Adverse events

Time frame: 24 weeks. Other adverse events reported at 0% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
Cysteamine Bitartrate Delayed-release	11 of 36 (30.6%)	35 of 36 (97.2%)	1 of 36

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 27 Dec 2024.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Background: PubMed 20569301Bousquet M, Gibrat C, Ouellet M, Rouillard C, Calon F, Cicchetti F. Cystamine metabolism and brain transport properties: clinical implications for neurodegenerative diseases. J Neurochem. 2010 Sep;114(6):1651-8. doi: 10.1111/j.1471-4159.2010.06874.x. Epub 2010 Aug 19.
Background: PubMed 22208644Salmi H, Leonard JV, Rahman S, Lapatto R. Plasma thiol status is altered in children with mitochondrial diseases. Scand J Clin Lab Invest. 2012 Apr;72(2):152-7. doi: 10.3109/00365513.2011.646299. Epub 2012 Jan 2.
Background: PubMed 18702664Maher P, Lewerenz J, Lozano C, Torres JL. A novel approach to enhancing cellular glutathione levels. J Neurochem. 2008 Nov;107(3):690-700. doi: 10.1111/j.1471-4159.2008.05620.x. Epub 2008 Aug 12.
Background: PubMed 19960200Mancuso M, Orsucci D, Logerfo A, Rocchi A, Petrozzi L, Nesti C, Galetta F, Santoro G, Murri L, Siciliano G. Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation. J Neurol. 2010 May;257(5):774-81. doi: 10.1007/s00415-009-5409-7. Epub 2009 Dec 4.

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.

MD study director

Amgen

5 sites in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

A Phase 2 study testing Cysteamine Bitartrate in people with Inherited Mitochondrial Disease, Including Leigh Syndrome, run by Amgen at 5 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 19 inclusion and 18 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 27 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 5 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.

What does this phase mean?

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

Yes. Results are posted in the registry (first posted 13 Nov 2017). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

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?

Change From Baseline in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Sections I-IV (time frame: Baseline through Week 24). 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 NCT02023866, which also lists 4 linked publications.

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 27 Dec 2024.