A SINGLE ARM, OPEN-LABEL, PHASE 2 STUDY TO ASSESS THE SAFETY AND EFFICACY OF VAL-1221 ON SUBJECTS WITH LAFORA DISEASE

Phase 1

• Conditions: patients with mid- to late stage Lafora Desease; MedDRA version: 20.0Level: PTClassification code 10054030Term: Lafora's myoclonic epilepsySystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Nervous System Diseases [C10]

• Registration Number: EUCTR2023-000185-34-IT
• Lead Sponsor: AZIENDA USL DI BOLOGNA

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2023-02-06
• Last Update Posted: 11 September 2023

Recruitment & Eligibility

• Status: Authorised-recruitment may be ongoing or finished
• Sex: All
• Target Recruitment: 6

Inclusion Criteria

1. Documented genetic diagnosis of LD based on pathogenic variants in both alleles of either the EPM2A or the NHLRC1 gene
2. Between 12 and 28 years of age
3. Mid- or late-stage in the LD evolution (LD progression scale 2-3)
4. Able and willing to comply with the study protocol including:
a. Caregiver/trial partner committed to facilitating patient's involvement in the study who is reliable, competent, and at least 18 years of age.
b. Adequate cognitive capacity to participate in neuropsychological testing adjusted to their level of functioning
Are the trial subjects under 18? yes
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 3
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

1.Any known genetic abnormality confounding the phenotype
2.Subjects a. with complete absence of speech OR b. unable to perform any activities of daily living OR c. completely bedridden
3.Current participation in an interventional or therapeutic study
4. Pregnancy
5.Receiving an investigational drug within 90 days of the Baseline Visit
6.Prior or current treatment with gene or stem cell therapy
7.Any other diseases which may significantly interfere with the assessment of LD
8.Have any additional conditions which, in the opinion of the Investigator, would make the subject unsafe for inclusion or could interfere with the subject participating in or completing the study.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified