NCT04737460: CLN7

Study for the Treatment for CLN7 Disease

Active, enrolled Phase 1 Last updated 31 December 2025

What this trial tests

Phase 1 trial testing AAV9/CLN7 in CLN7 in 4 participants. Participants enrolled and being followed up; not accepting new ones.

Timeline

4 May 2021

Primary endpoint
1 February 2028

1 February 2029

Quick facts

Lead sponsor	Benjamin Greenberg
Phase	Phase 1
Status	Active, enrolled
Study type	INTERVENTIONAL
Allocation	na
Design	single group
Masking	none
Primary purpose	treatment
Enrollment	4
Start date	4 May 2021
Primary completion	1 February 2028
Estimated completion	1 February 2029
Sites	1 location across United States

Drugs / interventions tested

• AAV9/CLN7

Conditions studied

• CLN7 — all drugs for CLN7 →

Sponsor

Benjamin Greenberg

Who can join

Adults 1 to 18, any sex, with CLN7. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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).

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord.
   Jensen TL, Gøtzsche CR, Woldbye DPD. · · 2021 · cited 53× · PMID 34690692 · DOI 10.3389/fnmol.2021.695937
2. Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches.
   Prasad S, Dimmock DP, Greenberg B, Walia JS, et al · · 2022 · cited 49× · PMID 35994385 · DOI 10.1089/hum.2022.138
3. Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.
   Simonati A, Williams RE. · · 2022 · cited 47× · PMID 35359645 · DOI 10.3389/fneur.2022.811686
4. Delivery of Adeno-Associated Virus Vectors to the Central Nervous System for Correction of Single Gene Disorders.
   Daci R, Flotte TR. · · 2024 · cited 39× · PMID 38256124 · DOI 10.3390/ijms25021050
5. AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease.
   Chen X, Dong T, Hu Y, Shaffo FC, et al · · 2022 · cited 35× · PMID 35025759 · DOI 10.1172/jci146286
6. Adeno-associated viral vector serotype 9-based gene replacement therapy for <i>SURF1</i>-related Leigh syndrome.
   Ling Q, Rioux M, Hu Y, Lee M, et al · · 2021 · cited 31× · PMID 34703839 · DOI 10.1016/j.omtm.2021.09.001
7. Clinical Trials for Gene Therapy in Lysosomal Diseases With CNS Involvement.
   Sevin C, Deiva K. · · 2021 · cited 30× · PMID 34604300 · DOI 10.3389/fmolb.2021.624988
8. Recombinant Adeno-Associated Virus Vectors for Gene Therapy of the Central Nervous System: Delivery Routes and Clinical Aspects.
   Słyk Ż, Stachowiak N, Małecki M. · · 2024 · cited 14× · PMID 39062095 · DOI 10.3390/biomedicines12071523