By InvitationPhase 2

Sirolimus for Leigh Syndrome

United States15 participantsStarted 2025-02-27

Plain-language summary

The purpose of this study is to evaluate the safety and efficacy of the drug Sirolimus in participants with Leigh syndrome.

Who can participate

Age range

6 Months – 55 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. Genetically-confirmed diagnosis of Leigh syndrome with neurodevelopmental manifestations, which include documented developmental delay, developmental regression, or abnormal neurologic exam findings including but not limited to hypotonia, hypertonia, dystonia, chorea, nystagmus, ataxia, dysmetria, tremor or muscle weakness.
. Age 6 months to 55 years at the time of enrollment.
. Weight ≥ 5 kg at the time of enrollment.
. Adequate liver function as evidenced by total bilirubin \< 1.5x upper limit of normal (ULN) and liver function tests, alanine transaminase (ALT) and aspartate aminotransferase (AST), \< 3x ULN.
. Adequate renal function as evidenced by glomerular filtration rate (GFR) \> 60 mL/min/1.73m2 (cystatin C for pediatric population).
. Normal hematologic parameters as defined as:
. Absolute neutrophil count (ANC) ≥ 1.0 x 109/L
. Platelet count ≥ 100,000/mm3 (100 x 109/L)

Exclusion criteria

. Cardiac ejection fraction ≤ 50 %, shortening fraction ≤ 25% on cardiac echocardiogram within one year of screening and/or severe end-organ hypo-perfusion syndrome (secondary to cardiac failure) resulting in lactic acidosis.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Rate of Adverse Events

Timeframe: Up to 2.5 years

Rate of Intercurrent Infection and Hospitalization

Timeframe: Up to 2.5 years

Incidence of abnormal safety lab values

Timeframe: Up to 2.5 years

Sirolimus Trough Level

Timeframe: Up to 2.5 years

Trial details

NCT IDNCT06843811

SponsorMatthew Demczko

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2027-12

View on ClinicalTrials.gov More Leigh Syndrome trials

Who can participate

Age range

6 Months – 55 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. Genetically-confirmed diagnosis of Leigh syndrome with neurodevelopmental manifestations, which include documented developmental delay, developmental regression, or abnormal neurologic exam findings including but not limited to hypotonia, hypertonia, dystonia, chorea, nystagmus, ataxia, dysmetria, tremor or muscle weakness.
. Age 6 months to 55 years at the time of enrollment.
. Weight ≥ 5 kg at the time of enrollment.
. Adequate liver function as evidenced by total bilirubin \< 1.5x upper limit of normal (ULN) and liver function tests, alanine transaminase (ALT) and aspartate aminotransferase (AST), \< 3x ULN.
. Adequate renal function as evidenced by glomerular filtration rate (GFR) \> 60 mL/min/1.73m2 (cystatin C for pediatric population).
. Normal hematologic parameters as defined as:
. Absolute neutrophil count (ANC) ≥ 1.0 x 109/L
. Platelet count ≥ 100,000/mm3 (100 x 109/L)

Exclusion criteria

. Cardiac ejection fraction ≤ 50 %, shortening fraction ≤ 25% on cardiac echocardiogram within one year of screening and/or severe end-organ hypo-perfusion syndrome (secondary to cardiac failure) resulting in lactic acidosis.