A SINGLE ARM, OPEN-LABEL, PHASE 2 STUDY TO ASSESS THE SAFETY AND EFFICACY OF VAL-1221 ON SUBJECTS WITH LAFORA DISEASE - VAL1221-ITLAFORA-01

AZIENDA USL DI BOLOGNA0 个研究点目标入组 6 人开始时间: 2023年2月6日最近更新: 2023年9月11日

适应症

试验速览

暂无简介。

•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

•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.

发起方