NCT04509609View on ClinicalTrials.gov

Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E

CompletedOBSERVATIONAL
Enrollment

33

Participants

Timeline

Start Date

June 1, 2020

Primary Completion Date

September 30, 2020

Study Completion Date

September 30, 2021

Conditions
LGMD2E
Interventions
OTHER

Exon 3 truncating mutation

Any patient affected by LGMD 2E with a genetic diagnosis carrying the truncating mutation c.377\_384duplCAGTAGGA on exon 3, both in homozygosis and in heterozygosis

OTHER

Any other mutation in SGBC gene

Any patient affected by LGMD 2E with a genetic diagnosis other than the truncating mutation c.377\_384duplCAGTAGGA on exon 3, both in homozygosis and in heterozygosis

Trial Locations (1)

20122

IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan

All Listed Sponsors
lead

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

OTHER

NCT04509609 - Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E | Biotech Hunter | Biotech Hunter