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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.
LGMD Type 2A, 2C, and 2D cohorts are now closed. Enrollment in the LGMD Type 2E cohort is closed and participants will be followed for up to five years.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| LGMD2E/R4 Cohort | Participants with LGMD2E/R4 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. | ||
| LGMD2D/R3 Cohort | Participants with LGMD2D/R3 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. | ||
| LGMD2C/R5 Cohort | Participants with LGMD2C/R5 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. | ||
| LGMD2A/R1 Cohort | Participants with LGMD2A/R1 will be enrolled in this cohort. Enrollment will be capped according to age as follows: 4 to 7 years age range, 8 to 16 years age range, and ≥17 years age range through the course of the study. |
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| Measure | Description | Time Frame |
|---|---|---|
| NSAD Total Score | Baseline up to Month 60 | |
| Time to Rise from the Floor | Baseline up to Month 60 | |
| Time of 10-Meter Walk/Run [10MWR] | Baseline up to Month 60 | |
| Time to Ascend 4 Steps | Baseline up to Month 60 | |
| Ankle Range of Motion (ROM) | Baseline up to Month 60 | |
| Dimension of the Performance of the Upper Limb (PUL) | Baseline up to Month 60 | |
| Timed Up and Go (TUG) | Baseline up to Month 60 | |
| Time of 100-Meter Walk/Run (100MWR) | Baseline up to Month 60 | |
| Pulmonary Function Test: Forced Vital Capacity (FVC) | Baseline up to Month 60 |
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Inclusion Criteria:
Exclusion Criteria:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Medical Director | Sarepta Therapeutics, Inc. | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Barrow Neurological Institute | Phoenix | Arizona | 85013 | United States | ||
| Arkansas Children's |
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| Little Rock |
| Arkansas |
| 72202 |
| United States |
| University of California San Diego | La Jolla | California | 92037 | United States |
| University of California, Davis Health Dept of PM&R | Sacramento | California | 95817 | United States |
| Anne & Robert H. Lurie Children's Hospital of Chicago | Chicago | Illinois | 60611 | United States |
| Nationwide Children's Hospital | Columbus | Ohio | 43205 | United States |
| Oregon Health and Science University | Portland | Oregon | 97068 | United States |
| The Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19104 | United States |
| University of Texas Southwestern Medical Center | Dallas | Texas | 75201 | United States |
| University of Utah Hospital | Salt Lake City | Utah | 84112 | United States |
| Children's Hospital of the King's Daughters | Norfolk | Virginia | 23507 | United States |
| University Hospital Gent | Ghent | Oost-Vlaanderen | 9000 | Belgium |
| UZ Leuven | Leuven | Vlaams Brabant | 3000 | Belgium |
| Hôpital Universitaire des Enfants Reine Fabiola | Brussels | 1020 | Belgium |
| Hospital de Clinicas de Porto Alegre (HCPA) - PPDS | Porto Alegre | Rio Grande do Sul | 90035-903 | Brazil |
| Children's Hospital - London Health Science Centre | London | Ontario | N6C 2R5 | Canada |
| Zentrum für Kinderheilkunde und Jugendmedizin Uniklinikum Giessen Marburg (UKGM), Standort Giessen | Giessen | Hesse | 35392 | Germany |
| Universitätsklinikum Essen | Essen | North Rhine-Westphalia | D-45147 | Germany |
| Istituto Giannina Gaslini | Genoa | Liguria | 16147 | Italy |
| Azienda Ospedale Università Padova | Padova | Veneto | 35129 | Italy |
| Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico | Milan | 20122 | Italy |
| Hospital Sant Joan de Déu Universidad de Barcelona | Barcelona | 08950 | Spain |
| Karolinska Universitetssjukhuset Solna | Stockholm | Stockholm County | 17176 | Sweden |
| Lokman Hekim Etlik Hastanesi | Ankara | 06100 | Turkey (Türkiye) |
| UCL Institute of Child Health & Great Ormond Street Hospital for Children | London | WC1N 1EH | United Kingdom |
| Institute of Genetic Medicine, International Centre for Life | Newcastle upon Tyne | NE1 3BZ | United Kingdom |
| ID | Term |
|---|---|
| D049288 | Muscular Dystrophies, Limb-Girdle |
| D058088 | Sarcoglycanopathies |
| D009136 | Muscular Dystrophies |
| ID | Term |
|---|---|
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012120 | Respiration Disorders |
| D012140 | Respiratory Tract Diseases |
| D009202 | Cardiomyopathies |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
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