CLN7Phase 1CLN7NCT04737460
Study for the Treatment for CLN7 Disease
A Phase 1 study testing AAV9/CLN7 in people with CLN7, run by Benjamin Greenberg at 1 site in United States.
Trial summary
This is a phase 1 open-label, single-administration of gene therapy agent AAV9/CLN7, administered intrathecally into the lumbar spinal cord region of pediatric patients with CLN7 Batten disease. This study consists of a one-time injection of AAV9/CLN7. There are two Cohorts with a low dose and a high dose. Read more about this study
- Who is it for?
- Ages 1 year to 18 years
- Conditions the study is for
- CLN7
- What is being tested?
- AAV9/CLN7
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 4 participants
- Where
- 1 siteUnited States
- Study dates
- 4 May 2021to 1 Feb 2029
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
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 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 1-18 years of age
- Clinically symptomatic patients with diagnosis of CLN7 based upon molecular testing with homozygous or compound heterozygous and pathogenic mutations in MFSD8 gene with symptom onset before age 4
- Patients selected to be included in this study will have no more than moderate severity of the disease and will have to meet the following criteria; Not dependent on chronic invasive ventilatory support AND have either
- Expressive language sub test on Mullen and/or Vineland consistent with an age equivalent score of a 2 year 0 month old. This means they should have 20-50 words (all comprehensible) in their vocabulary and putting 2-3 words phrases in a sentence or,
- Patients can complete and obtain a score of 2-3 on GMFM sub domain E (Walking, Running \& jumping) item 67 (ie With 2 hands held can walk 10 steps forward)
- Written informed consent provided by participant/parent/guardian and willingness to participate and comply with all the study related visits and procedures. Assent provided by children 10 -17 years old based on their ability to understand the risks and possible benefits, and the activities expected of them as participants.
Who cannot join
- Diagnosis of a second neurodegenerative disease or another genetic syndrome with a progressive course
- Hypersensitivity to any drugs used per procedural protocol
- Inability to tolerate anesthesia or study procedures
- Advanced stage disease defined by the use of chronic invasive ventilatory support (tracheostomy with ventilator dependence) and a non communicative status
- Concomitant illness that places patient at risk for gene transfer or gene transfer related procedures and immunosuppression
- Active, symptomatic viral infection (including but not limited to HIV or serology positive for Hepatitis B or C, or COVID-19) at the PI's discretion
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- Bacterial infection requiring antibiotics within the 6 weeks prior to infusion
- New antiepileptic medications initiated within 90 days of infusion
- Status epilepticus within 30 days of infusion
- Generalized tonic-clonic seizure without returning to baseline within 24 hours of infusion
- Family is unwilling or unable to participate with required follow-up assessments
- Abnormal lab values that are clinically significant:
- Platelet count < 100,000/mm3
- Abnormal absolute neutrophil count (ANC) of < 1000/mm3
- Persistent leukopenia or leukocytosis (Total white blood cell count < 3,000/mm or > 15,000/mm respectively)
- Significant anemia (Hb <10 g/dL)
- Abnormal prothrombin (PT) or partial thromboplastin time (PTT)
- Abnormal liver function tests (>2 X ULN or > 2 X the baseline value at time of dosing)
- Abnormal pancreatic enzymes (>2 X ULN or > 2 X the baseline value at time of dosing)
- Renal impairment defined as urinary protein concentration greater than or equal to 0.2 g/L on 2 consecutive tests
- Any other abnormal lab values that are clinically significant per PI's discretion
- If labs are abnormal, these can be rechecked during the screening period. If labs normalize with or without intervention, patient can be enrolled at the discretion of PI.
- Contraindications for intrathecal administration of the product via lumbar puncture, such as bleeding disorders or other medical conditions (e.g., spina bifida or clotting abnormalities)
- Contraindications for MRI scans (including but not limited to cardiac pacemaker, metal in the eye, aneurysm clip in the brain, etc.)
- History of or current chemotherapy, radiotherapy, or other immunosuppression therapy within 30 days preceding screening (corticosteroid treatment may be permitted at the discretion of the PI)
- Receipt of any other investigational agent within the previous 3 months
- Positive Beta hCG pregnancy test (females of child bearing potential will have a pregnancy test on Day -1)
- Any other medical condition that puts the subject at increased risk of adverse events related to the investigational product or study-related procedures.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Phase 1 Intrathecal Lumbar Administration of AAV9/CLN7 for Treatment of CLN7 Disease
This is a phase 1 open-label, single-administration of gene therapy agent AAV9/CLN7, administered intrathecally into the lumbar spinal cord region of pediatric patients with CLN7 Batten disease.
This study consists of a one-time injection of AAV9/CLN7. There are two Cohorts with a low dose and a high dose.
Read more
The primary objective for this clinical study is to evaluate safety. The secondary objective is to determine the efficacy of AAV9/CLN7.
The secondary outcome measures include motor, cognition and intelligence assessments.
The exploratory outcome measures include visual impairment assessment, cognitive evaluations, Brain magnetic resonance imaging (MRI), electroencephalogram (EEG), electrocardiogram (ECG) and echocardiogram (ECHO).
- Conditions
- CLN7
- Being tested
- AAV9/CLN7
- Keywords
- CLN7, Batten's Disease, AAV9/CLN7
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AAV9/CLN7Genetic
Enrollees will receive gene therapy via a viral vector
| Study group | Role | What they receive |
|---|---|---|
| AAV9/CLN7 | Experimental | AAV9/CLN7 is an intrathecally administered AAV9-based gene therapy vector that expresses the fully functional form of MFSD8 under the control of a synthetic promoter. AAV9/CLN7 is designed to achieve stable, potentially life-long expression of MFSD8 in non-dividing cells.
The first participant will receive a low dose of 5X1014 vg, subsequent participants will receive a higher dose of 1x1015 vg of the AAV9/CLN7 agent. Receives: Genetic: AAV9/CLN7 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety measured by the incidence and severity of treatment related serious adverse events
Adverse event collection at scheduled visits. Lab results at scheduled visits. MRI Brain at Days 90, 180, 360, 720. Lumbar Puncture with Cerebral Spinal Fluid analysis at Days 90, 180, 360 and 720.
Measured: Day 0 to 720
Secondary outcomes (10)
Mean change in disease burden as measured by Clinical Global Impression Scale (CGI-S)
Clinical Global Impression Scale (CGI) a 3 item observer rated scale that measures illness severity global improvement or change and therapeutic response.
The CGI-S is rated on a 7-point scale, with the severity of illness scale using a range of responses from 1 (normal) through to 7 (amongst the most severely ill patients).
Possible score ranges from 1-7, with highest score indicating the most severely ill patients.
Measured: Baseline, 24 months
Mean change in disease burden as measured by Early Clinical Drug Evaluation Program (ECDEU)
The Early Clinical Drug Evaluation Program (ECDEU) version of the CGI asks that the clinician rate the patient relative to their past experience with other patients with the same diagnosis. Treatment response ratings should take account of both therapeutic efficacy and treatment-related adverse events and range from 0 (marked improvement and no side effects) to 4 (unchanged or worse and side effects outweigh the therapeutic effects).
Possible scores range from 0-4, with lower score indicating more improvement.
Measured: Baseline, 24 months
Mean change in motor function as measured by 2- minute Walk Test
Ataxia and Motor Function Assessments include a 2 - minute Walk test measuring endurance.
The timed walk test will be completed by participants who can ambulate sufficiently. The Two Minute Walk Test (2MWT) measures the distance that an individual over age 3 can walk on a flat surface in a period of 2 minutes, and assesses endurance relative to the musculoskeletal, pulmonary, and cardiovascular systems.
Measured: Baseline, 24 months
Mean change in motor function as measured by 6- minute Walk Test
Ataxia and Motor Function Assessments include a 6- minute Walk test measuring endurance.
The Six Minute Walk Test (6MWT) measures endurance in a similar fashion using a time interval of 6 minutes and is a commonly used measure for evaluating outcomes in research for multiple different populations of children and adults.
Measured: Baseline, 24 months
Mean change in motor function as measured by Pediatric Balance scale
The Pediatric Balance Scale is a 14-item test used to evaluate functional balance in children.
It is an adapted version of the Berg Balance Scale.
Possible score ranges from 0-56 , with highest score indicating better performance.
Measured: Baseline, 24 months
Mean change in motor function as measured by Gross Motor Function Measure-88
Gross Motor Function Measure is used to measure self initiated movement in ambulatory and non-ambulatory participants to evaluate changes in gross motor function over time.
Possible score ranges from 0-3, with higher score indicating better motor function.
Measured: Baseline, 24 months
Mean change in Neuropsychological state as measured by Mullen scales.
The Mullen Scales of Early Learning is a comprehensive Neuropsychological assessment of early language, motor and cognitive abilities. T scores are given for individual scales and the four cognitive scales (visual reception, fine motor, receptive language and expressive language) are combined to to yield a composite score of Early Learning. Each scale is comprised of interactive tasks with a scoring range for each item of zero to 5 points.
Test ages are converted to normalized T-scores by using tables based on the child's age. T scores have the same meaning regardless of a child's age.
Possible score ranges from 1-100 for percentile ranking, with higher score indicating higher performance.
Measured: Baseline, 24 months
Mean change in Neuropsychological state as measured by Vineland Adaptive Behavior Scales
The Vineland Adaptive Behavior Scale is one of the most well-known and well-validated Neuropsychological measures of adaptive functioning. Four key domains will be rated including communication skills, daily living skills, social skills and motor skills. The combination of these makes up the overall Adaptive Behavior Composite (ABC). Scores are based on standard scores for the domains and age-equivalents meaning the scores are compared to that of others that are his or her age.
The score is a percentile ranking in an individual's normative age group. The higher the percentage ranking indicates a better outcome on the scale.
Possible score ranges from 1 -100 for percentile ranking, with higher score indicating higher performance.
Measured: Baseline, 24 months
Mean change of Quality of life as measured by Quality of Life Inventory - Disability questionnaire
Quality of Life Inventory - Disability (QI-Disability) questionnaire measures quality of life with 32-item measures that includes - a child's social interactions, positive emotions, physical health, negative emotions, leisure skills, and independence. Scores are a 5-point Likert scale and then are transformed to a scale of 0 to 100.
Possible scores range from 0-100, with higher scores indicating better quality of life.
Measured: Baseline, 24 months
Mean change of Quality of life as measured by Infant and Toddler Quality of Life Questionnaire (ITQOL)
The ITQOL Short Form is a 47-item measure to assess physical and psychosocial functioning of children ages 2 months to 5 years. It contains 12 scales including physical functioning, growth and development, bodily pain, temperament and moods, general behavior, getting along, general health perceptions, parental impact-emotional, parental impact-time, family activities, family cohesion, and change in health. Scores are transformed to a scale of 0 to 100.
Possible scores range from 0-100, with higher scores indicating better quality of life.
Measured: Baseline, 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Feb 2021
- Study start4 May 2021
- Primary completion1 Feb 2028 (estimated)
- Study completion1 Feb 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CLN7Studies 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
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- An initial low dose cohort followed by a subsequent a high dose cohort
- Masking
- None (open label)
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Benjamin Greenberg
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Benjamin Greenberg, University of Texas Southwestern Medical Center
- Investigators
- Benjamin Greenberg, MD, Principal investigator, University of Texas Southwestern Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04737460
- Sponsor's protocol ID
- STU 2020-0640
- Acronym
- CLN7
- Status last verified
- Dec 2025
- First submitted
- 15 Jan 2021
- Last updated
- 31 Dec 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 31 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phase 1 Intrathecal Lumbar Administration of AAV9/CLN7 for Treatment of CLN7 Disease
- ClinicalTrials.gov ID
- NCT04737460
- Acronym / sponsor ID
- CLN7 / STU 2020-0640
- Conditions
- CLN7
- Keywords
- CLN7, Batten's Disease, AAV9/CLN7
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Benjamin GreenbergUniversity, hospital or other
- Study start
- 4 May 2021 (actual)
- Primary completion
- 1 Feb 2028 (estimated)
- Study completion
- 1 Feb 2029 (estimated)
- First posted
- 3 Feb 2021 (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.
This is a phase 1 open-label, single-administration of gene therapy agent AAV9/CLN7, administered intrathecally into the lumbar spinal cord region of pediatric patients with CLN7 Batten disease.
This study consists of a one-time injection of AAV9/CLN7. There are two Cohorts with a low dose and a high dose.
The primary objective for this clinical study is to evaluate safety. The secondary objective is to determine the efficacy of AAV9/CLN7.
The secondary outcome measures include motor, cognition and intelligence assessments.
The exploratory outcome measures include visual impairment assessment, cognitive evaluations, Brain magnetic resonance imaging (MRI), electroencephalogram (EEG), electrocardiogram (ECG) and echocardiogram (ECHO).
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- An initial low dose cohort followed by a subsequent a high dose cohort
| Arm | Type | Receives |
|---|---|---|
| AAV9/CLN7 | Experimental | Genetic: AAV9/CLN7AAV9/CLN7 is an intrathecally administered AAV9-based gene therapy vector that expresses the fully functional form of MFSD8 under the control of a synthetic promoter. AAV9/CLN7 is designed to achieve stable, potentially life-long expression of MFSD8 in non-dividing cells. The first participant will receive a low dose of 5X1014 vg, subsequent participants will receive a higher dose of 1x1015 vg of the AAV9/CLN7 agent. |
Who may qualify
- Ages
- 1 year to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (6 listed)
- 1-18 years of age
- Clinically symptomatic patients with diagnosis of CLN7 based upon molecular testing with homozygous or compound heterozygous and pathogenic mutations in MFSD8 gene with symptom onset before age 4
- Patients selected to be included in this study will have no more than moderate severity of the disease and will have to meet the following criteria; Not dependent on chronic invasive ventilatory support AND have either
- Expressive language sub test on Mullen and/or Vineland consistent with an age equivalent score of a 2 year 0 month old. This means they should have 20-50 words (all comprehensible) in their vocabulary and putting 2-3 words phrases in a sentence or,
- Patients can complete and obtain a score of 2-3 on GMFM sub domain E (Walking, Running \& jumping) item 67 (ie With 2 hands held can walk 10 steps forward)
Key exclusion criteria (28 listed)
- Diagnosis of a second neurodegenerative disease or another genetic syndrome with a progressive course
- Hypersensitivity to any drugs used per procedural protocol
- Inability to tolerate anesthesia or study procedures
- Advanced stage disease defined by the use of chronic invasive ventilatory support (tracheostomy with ventilator dependence) and a non communicative status
- Concomitant illness that places patient at risk for gene transfer or gene transfer related procedures and immunosuppression
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 |
|---|---|---|
| AAV9/CLN7Enrollees will receive gene therapy via a viral vector | Genetic | AAV9/CLN7 |
Primary outcome
Safety measured by the incidence and severity of treatment related serious adverse events
Time frame: Day 0 to 720
Adverse event collection at scheduled visits. Lab results at scheduled visits. MRI Brain at Days 90, 180, 360, 720. Lumbar Puncture with Cerebral Spinal Fluid analysis at Days 90, 180, 360 and 720.
10 secondary outcomes
Mean change in disease burden as measured by Clinical Global Impression Scale (CGI-S)
Time frame: Baseline, 24 months
Mean change in disease burden as measured by Early Clinical Drug Evaluation Program (ECDEU)
Time frame: Baseline, 24 months
Mean change in motor function as measured by 2- minute Walk Test
Time frame: Baseline, 24 months
Mean change in motor function as measured by 6- minute Walk Test
Time frame: Baseline, 24 months
Mean change in motor function as measured by Pediatric Balance scale
Time frame: Baseline, 24 months
Mean change in motor function as measured by Gross Motor Function Measure-88
Time frame: Baseline, 24 months
Mean change in Neuropsychological state as measured by Mullen scales.
Time frame: Baseline, 24 months
Mean change in Neuropsychological state as measured by Vineland Adaptive Behavior Scales
Time frame: Baseline, 24 months
Mean change of Quality of life as measured by Quality of Life Inventory - Disability questionnaire
Time frame: Baseline, 24 months
Mean change of Quality of life as measured by Infant and Toddler Quality of Life Questionnaire (ITQOL)
Time frame: Baseline, 24 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 31 Dec 2025.
- Individual participant dataSharing planned: No
Related trials for CLN7
RecruitingObservational study
Clinical and Neuropsychological Investigations in Batten Disease
Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1
RecruitingObservational study
Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
Neuronal Ceroid Lipofuscinosis, Batten Disease
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.
Benjamin Greenberg, MD principal investigator
University of Texas Southwestern Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing AAV9/CLN7 in people with CLN7, run by Benjamin Greenberg 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 6 inclusion and 28 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: under way, not looking for participants, as of the sponsor's last update on 31 Dec 2025. 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.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
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?
Safety measured by the incidence and severity of treatment related serious adverse events (time frame: Day 0 to 720). 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 31 Dec 2025.