Clinical trial NCT04475926: A Study of the Natural History of Participants With LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, and LGMD2A/R1 ≥ 4 Years of Age, Who Are Managed in Routine Clinical Practice
Official title: Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), Type 2C (LGMD2C/R5), and Type 2A (LGMD2A/R1)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Limb-girdle Muscular Dystrophy
Keywords: North Star Assessment for Dysferlinopathy (NSAD)
Performance of Upper Limb (PUL)
Pulmonary function tests (PFTs)
Ambulatory
Non-Ambulatory
Limb-girdle
LGMD
sarcoglycanopathy
β -sarcoglycan
Muscular Dystrophy
α -sarcoglycan
γ -sarcoglycan
LGMD-2D/R3
LGMD-2E/R4
LGMD-2C/R5
LGMD2A/R1
Clinical Outcomes Assessment
Lead sponsor: Sarepta Therapeutics, Inc.
Sponsor class: INDUSTRY
First posted: 2020-07-17
Enrollment: 241
Sex: ALL
Minimum age (years): 4
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The population for this study is ambulatory or non-ambulatory participants ≥ 4 years of age with confirmed genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.

Brief summary: This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy type 2C (LGMD2C/R5), or Limb-girdle muscular dystrophy type 2A (LGMD2A/R1).

These enrolled participants will be followed to evaluate mobility and pulmonary function for up to 5 years after enrollment for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a North Star Assessment for Dysferlinopathy (NSAD) ≥ 25 at Baseline, up to 3 years for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a NSAD \< 25 at Baseline, and up to 3 years for participants with LGMD2A/R1. Additional participant data will be collected from the time the individual began experiencing LGMD symptoms to the present.


Eligibility criteria: Inclusion Criteria:

* Male or female participant ≥ 4 years of age who demonstrate symptoms of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1 in the opinion of the investigator (eg, muscle weakness, loss of function, delayed milestones).
* Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.

Exclusion Criteria:

* Demonstrates cognitive delay or impairment that could confound motor development, in the opinion of the Investigator.
* Has a medical condition, in the opinion of the Investigator, that might compromise participants ability to comply with study requirements.
* Is participating in other interventional study(ies) at the time of enrollment in this study.

Primary outcomes:
measure: NSAD Total Score
timeFrame: Baseline up to Month 60
measure: Time to Rise from the Floor
timeFrame: Baseline up to Month 60
measure: Time of 10-Meter Walk/Run [10MWR]
timeFrame: Baseline up to Month 60
measure: Time to Ascend 4 Steps
timeFrame: Baseline up to Month 60
measure: Ankle Range of Motion (ROM)
timeFrame: Baseline up to Month 60
measure: Dimension of the Performance of the Upper Limb (PUL)
timeFrame: Baseline up to Month 60
measure: Timed Up and Go (TUG)
timeFrame: Baseline up to Month 60
measure: Time of 100-Meter Walk/Run (100MWR)
timeFrame: Baseline up to Month 60
measure: Pulmonary Function Test: Forced Vital Capacity (FVC)
timeFrame: Baseline up to Month 60
Secondary outcomes:
Other outcomes:
Locations:
city: Phoenix
country: United States
facility: Barrow Neurological Institute
state: Arizona
city: Little Rock
country: United States
facility: Arkansas Children's
state: Arkansas
city: La Jolla
country: United States
facility: University of California San Diego
state: California
city: Sacramento
country: United States
facility: University of California, Davis Health Dept of PM&R
state: California
city: Chicago
country: United States
facility: Anne & Robert H. Lurie Children's Hospital of Chicago
state: Illinois
city: Columbus
country: United States
facility: Nationwide Children's Hospital
state: Ohio
city: Portland
country: United States
facility: Oregon Health and Science University
state: Oregon
city: Philadelphia
country: United States
facility: The Children's Hospital of Philadelphia
state: Pennsylvania
city: Dallas
country: United States
facility: University of Texas Southwestern Medical Center
state: Texas
city: Salt Lake City
country: United States
facility: University of Utah Hospital
state: Utah
city: Norfolk
country: United States
facility: Children's Hospital of the King's Daughters
state: Virginia
city: Gent
country: Belgium
facility: University Hospital Gent
state: Oost-Vlaanderen
city: Leuven
country: Belgium
facility: UZ Leuven
state: Vlaams Brabant
city: Brussels
country: Belgium
facility: Hôpital Universitaire des Enfants Reine Fabiola
city: Porto Alegre
country: Brazil
facility: Hospital de Clinicas de Porto Alegre (HCPA) - PPDS
state: Rio Grande Do Sul
city: London
country: Canada
facility: Children's Hospital - London Health Science Centre
state: Ontario
city: Giessen
country: Germany
facility: Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen
state: Hessen
city: Essen
country: Germany
facility: Universitätsklinikum Essen
state: Nordrhein-Westfalen
city: Genova
country: Italy
facility: Istituto Giannina Gaslini
state: Liguria
city: Padova
country: Italy
facility: Azienda Ospedale Università Padova
state: Veneto
city: Milan
country: Italy
facility: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
city: Barcelona
country: Spain
facility: Hospital Sant Joan de Déu Universidad de Barcelona
city: Stockholm
country: Sweden
facility: Karolinska Universitetssjukhuset Solna
state: Stockholms Lan
city: Ankara
country: Turkey
facility: Lokman Hekim Etlik Hastanesi
city: London
country: United Kingdom
facility: UCL Institute of Child Health & Great Ormond Street Hospital for Children
city: Newcastle Upon Tyne
country: United Kingdom
facility: Institute of Genetic Medicine, International Centre for Life
Study officials:
affiliation: Sarepta Therapeutics, Inc.
name: Medical Director
role: STUDY_DIRECTOR
References: