|E.1 Medical condition or disease under investigation
|Medical condition(s) being investigated
|Patients with variant late infantile neuronal ceroid lipofuscinosis associated with mutation(s) in the CLN6 gene (vLINCL6 disease), a subset of patients with CLN6 Batten disease.
|Medical condition in easily understood language
|Patients with a mutation in the genetic material resulting CLN6 Batten disease that primarily affect the brain and retina.
|Diseases [C] - Nervous System Diseases [C10]
|E.1.2 Medical condition or disease under investigation
|Neuronal ceroid lipofuscinosis NOS
|System Organ Class
|Condition being studied is a rare disease
|E.2 Objective of the trial
|Main objective of the trial
|The primary objective of this study is to assess the long-term safety of AT-GTX-501 in subjects with vLINCL6 disease.
|Secondary objectives of the trial
|The secondary objective of this study is to assess the long-term efficacy of AT-GTX-501 in subjects with vLINCL6 disease.
|Trial contains a sub-study
|Principal inclusion criteria
|1. Subject received AT-GTX-501 (scAAV9.CB.CLN6) in the study “Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9.”
2. Subject completed or prematurely discontinued from the study “Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9.”
3. Subject has a legally authorized representative who has provided written informed consent and authorization for use and disclosure of personal health information or research-related health information.
|Principal exclusion criteria
|E.5 End points
|Primary end point(s)
|The primary efficacy endpoint(s) will be defined based on the Hamburg scale (total, individual domain scores, and/or motor-language aggregate score).
|Timepoint(s) of evaluation of this end point
|The Hamburg scale will be performed at all visits semi-annually for the first 3 years (ie, for Year 1 to Year 3 subjects will complete a minimum of 1 annual assessment via a structured remote interview [eg, via phone/video] plus 1 annual site visit) and then annually for the remainder of the study (ie, 1 annual site visit for Year 4 to Year 13).
|Secondary end point(s)
|The secondary efficacy endpoints will be defined based on parameters from the following assessments:
• Hamburg scores/subscores not included as a primary efficacy endpoint
• Neurological examinations
• Cognitive and language evaluations
• Ophthalmologic examinations
• Brain MRIs
|Timepoint(s) of evaluation of this end point
|To assess long-term efficacy following subject’s previous receipt of AT-GTX-501, the assessments in this LTFU study will be performed semi-annually for the first 3 years (ie, for Year 1 to Year 3 subjects will complete a minimum of 1 annual assessment via a structured remote interview [eg, via phone/video] plus 1 annual site visit) and then annually for the remainder of the study (ie, 1 annual site visit for Year 4 to Year 13).
|E.6 and E.7 Scope of the trial
|Scope of the trial
|Other scope of the trial description
|This is a long-term safety and efficacy study in subjects with vLINCL6 disease who previously received a single intrathecal administration of AT-GTX-501.
To assess long-term efficacy following subject’s previous receipt of AT-GTX-501, the assessments in this LTFU study are to evaluate motor, language, visual, and cognitive function, as well as survival and
other outcome measures.
|Trial type and phase
|Human pharmacology (Phase I)
|First administration to humans
|Other trial type description
|Long Term Follow up of patients included in study AT-GTX-501-01, conducted in US under IND 16854
|Therapeutic exploratory (Phase II)
|Therapeutic confirmatory (Phase III)
|Therapeutic use (Phase IV)
|E.8 Design of the trial
| Comparator of controlled trial
|Other medicinal product(s)
|Number of treatment arms in the trial
The trial involves single site in the Member State concerned
| The trial involves multiple sites in the Member State concerned
|The trial involves multiple Member States
|Number of sites anticipated in the EEA
|E.8.6 Trial involving sites outside the EEA
|Trial being conducted both within and outside the EEA
|Trial being conducted completely outside of the EEA
|If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned
|Trial has a data monitoring committee
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
|The end of study is defined as the date of database lock.
|E.8.9 Initial estimate of the duration of the trial
|In the Member State concerned years
|In the Member State concerned months
|In the Member State concerned days
|In all countries concerned by the trial years