Leigh SyndromeNCT05277363
A Study of the Natural Course of SURF1 Deficiency
An observational study of Leigh Syndrome, run by Taysha Gene Therapies, Inc. at 1 site in United States.
Trial summary
The purpose of the study is to prospectively and systematically collect standardized clinical information, to describe important features of the disease course of SURF1 deficiency. These include but are not limited to symptomatology, clinical course, and risk factors for severe disease and complications. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Leigh Syndrome
- What is being tested?
- None (Observational study)
- How many people
- 0 participants
- Where
- 1 siteUnited States
- Study dates
- 4 May 2022to 4 May 2022
- 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 Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Participants with SURF1 deficiency
Who may be able to join
- Informed consent/assent provided by the participant based on participant's cognitive ability as determined by Principal Investigator (PI), and/or participant's parent(s) or legally authorized representative(s).
- Participant is < 18 years of age at time of initial informed consent.
- Displays one or more clinical features consistent with SURF1 deficiency, including but not limited to, hypotonia, motor delays, motor regression, failure to thrive, language delays, and/or language regression.
- Genetic diagnosis of SURF1 pathogenic or likely pathogenic mutation(s), either compound heterozygous or homozygous mutations. If variants are of uncertain significance (VUS), verify documentation of cytochrome c oxidase (COX) activity deficiency.
- Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
Who cannot join
- Any known genetic abnormality (other than SURF1 deficiency), including but not limited to a chromosomal aberration or molecularly known or clinically suspected progressive neurometabolic disorder or dementia, that confounds the clinical phenotype.
- The presence of significant non-SURF1-related central nervous system (CNS) impairment/behavioral disturbances that would confound the scientific rigor or interpretation of results of the study or a known history of perinatal asphyxia, kernicterus, carbon monoxide or methanol intoxication.
- Current participation in a therapeutic study or participation in a therapeutic study within 30 days prior to enrollment in the present study.
- Prior or current treatment with gene or stem cell therapy.
- Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: A Natural History Study of Surfeit Locus Protein 1 (SURF1)-Associated Leigh Syndrome
The purpose of the study is to prospectively and systematically collect standardized clinical information, to describe important features of the disease course of SURF1 deficiency. These include but are not limited to symptomatology, clinical course, and risk factors for severe disease and complications.
Read the detailed description
Participant eligibility for the study will be determined during a screening period lasting up to 45 days. In-clinic follow visits will occur over several days every 6 months for 2 years from baseline. Thereafter, annual telephone follow-up contact will be conducted for 2 additional years. Thus, the active study duration for each participant will be up to approximately 2 years and the total duration per participant will be approximately 4 years.
The study will be conducted in the United States and select sites outside the United States based on incidence data.
- Conditions
- Leigh Syndrome
- Being tested
- None (Observational study)
- Keywords
- SURF1-associated Leigh Syndrome, Biomarkers, Epidemiology study, Genotype-phenotype correlation data, Leigh Syndrome, Primary Mitochondrial Disease, SURF1 deficiency, Natural History study, Neurodegenerative disease
- Medical subject headings
- Leigh Disease, Neurodegenerative Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
None (Observational study)Other
Also called Observational study
No investigational intervention, marketed product, or placebo will be administered to study participants in this study.
| Study group | Role | What they receive |
|---|---|---|
| Prospective cohort | Parents/caregivers of participants with SURF1 deficiency will provide information regarding diagnosis, onset of symptoms, and course of the disease and participants will be assessed prospectively over time using standardized qualitative and quantitative tools. Receives: Other: None (Observational study) |
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)
The NPMDS is scored by section (domain), and the final (total) score is the sum of all section scores. Function is rated over preceding 4-week period, according to participant and/or caregiver. NPMDS is subdivided by patient age (0-24 months, 2-11 years, and 12-18 years).
Measured: From baseline until follow-up (up to 24 months/early termination)
Secondary outcomes (3)
Change from baseline in Head Control Scale
Head control will be evaluated using the Head Control Scale (which ranges 0 to 16, with 0 representing no function and 4 representing normal function in each of the 4 domains).
Measured: From baseline until follow-up (up to 24 months/early termination)
Change from baseline in Gross Motor Function Measure (GMFM)
The Gross Motor Function Measure will measure the child's capacity for gross motor function. Scores are based on a 0 to 100% scale with higher percentage indicating better function.
Measured: From baseline until follow-up (up to 24 months/early termination)
Change from baseline in Vineland Adaptive Behavior Scales Third Edition (Vineland-3)
Vineland-3 forms aid in diagnosing and classifying intellectual and developmental disabilities and other disorders. The individual's overall adaptive functioning is described by a total score and three subdomain scores. The scores ranges from 20 to 140, with higher numbers indicating better performance.
Measured: From baseline until follow-up (up to 24 months/early termination)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Mar 2022
- Study start4 May 2022
- Primary completion4 May 2022
- Study completion4 May 2022
Why it stopped: The study stopped early, before enrolling its first participant
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Leigh SyndromeStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- Taysha Gene Therapies, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05277363
- Sponsor's protocol ID
- TSHA-104-RG-001
- Status last verified
- May 2022
- First submitted
- 3 Mar 2022
- Last updated
- 20 May 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Natural History Study of Surfeit Locus Protein 1 (SURF1)-Associated Leigh Syndrome
- ClinicalTrials.gov ID
- NCT05277363
- Acronym / sponsor ID
- TSHA-104-RG-001
- Conditions
- Leigh Syndrome
- Keywords
- SURF1-associated Leigh Syndrome, Biomarkers, Epidemiology study, Genotype-phenotype correlation data, Leigh Syndrome, Primary Mitochondrial Disease, SURF1 deficiency, Natural History study
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: The study stopped early, before enrolling its first participant
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Taysha Gene Therapies, Inc.Industry (pharma, biotech, devices)
- Study start
- 4 May 2022 (actual)
- Primary completion
- 4 May 2022 (actual)
- Study completion
- 4 May 2022 (actual)
- First posted
- 14 Mar 2022 (actual)
- 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.
The purpose of the study is to prospectively and systematically collect standardized clinical information, to describe important features of the disease course of SURF1 deficiency. These include but are not limited to symptomatology, clinical course, and risk factors for severe disease and complications.
Detailed description
Participant eligibility for the study will be determined during a screening period lasting up to 45 days. In-clinic follow visits will occur over several days every 6 months for 2 years from baseline. Thereafter, annual telephone follow-up contact will be conducted for 2 additional years. Thus, the active study duration for each participant will be up to approximately 2 years and the total duration per participant will be approximately 4 years.
The study will be conducted in the United States and select sites outside the United States based on incidence data.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Prospective cohort | – | Other: None (Observational study)Parents/caregivers of participants with SURF1 deficiency will provide information regarding diagnosis, onset of symptoms, and course of the disease and participants will be assessed prospectively over time using standardized qualitative and quantitative tools. |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Participants with SURF1 deficiency
Key inclusion criteria (5 listed)
- Informed consent/assent provided by the participant based on participant's cognitive ability as determined by Principal Investigator (PI), and/or participant's parent(s) or legally authorized representative(s).
- Participant is < 18 years of age at time of initial informed consent.
- Displays one or more clinical features consistent with SURF1 deficiency, including but not limited to, hypotonia, motor delays, motor regression, failure to thrive, language delays, and/or language regression.
- Genetic diagnosis of SURF1 pathogenic or likely pathogenic mutation(s), either compound heterozygous or homozygous mutations. If variants are of uncertain significance (VUS), verify documentation of cytochrome c oxidase (COX) activity deficiency.
- Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
Key exclusion criteria (5 listed)
- Any known genetic abnormality (other than SURF1 deficiency), including but not limited to a chromosomal aberration or molecularly known or clinically suspected progressive neurometabolic disorder or dementia, that confounds the clinical phenotype.
- The presence of significant non-SURF1-related central nervous system (CNS) impairment/behavioral disturbances that would confound the scientific rigor or interpretation of results of the study or a known history of perinatal asphyxia, kernicterus, carbon monoxide or methanol intoxication.
- Current participation in a therapeutic study or participation in a therapeutic study within 30 days prior to enrollment in the present study.
- Prior or current treatment with gene or stem cell therapy.
- Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures.
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 |
|---|---|---|
| None (Observational study)Also: Observational studyNo investigational intervention, marketed product, or placebo will be administered to study participants in this study. | Other | Prospective cohort |
Primary outcome
Change from baseline in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS)
Time frame: From baseline until follow-up (up to 24 months/early termination)
The NPMDS is scored by section (domain), and the final (total) score is the sum of all section scores. Function is rated over preceding 4-week period, according to participant and/or caregiver. NPMDS is subdivided by patient age (0-24 months, 2-11 years, and 12-18 years).
3 secondary outcomes
Change from baseline in Head Control Scale
Time frame: From baseline until follow-up (up to 24 months/early termination)
Change from baseline in Gross Motor Function Measure (GMFM)
Time frame: From baseline until follow-up (up to 24 months/early termination)
Change from baseline in Vineland Adaptive Behavior Scales Third Edition (Vineland-3)
Time frame: From baseline until follow-up (up to 24 months/early termination)
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 May 2022.
- Individual participant dataSharing planned: No
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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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Leigh Syndrome, run by Taysha Gene Therapies, Inc. at 1 site 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 5 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: withdrawn, as of the sponsor's last update on 20 May 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
The study was withdrawn before enrolling participants, so there are no results.
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) (time frame: From baseline until follow-up (up to 24 months/early termination)). It is what the study was designed to measure, not a finding.
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 20 May 2022.