Long-Term Development of Muscular Dystrophy Outcome Assessments

NCT05989620 | Recruiting DMC

• 1 other identifier: HM20027839
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

This is a 24-month, observational study of up to 1000 participants with Limb Girdle Muscular Dystrophy (LGMD), Myotonic Dystrophy Type 2 (DM2), and late onset Pompe disease (LOPD).

Conditions

LGMD1B; LGMD1C; LGMD1D; LGMD1E; LGMD1F; LGMD1G; LGMD1H; LGMD2A; LGMD2B; LGMD2C; LGMD2D; LGMD2E; LGMD2F; LGMD2G; LGMD2I; LGMD2J; LGMD2K; LGMD2L; LGMD2M; LGMD2N; LGMD2O; LGMD2P; LGMD2Q; LGMD2S; LGMD2T; LGMD2U; LGMD2W; LGMD2X; LGMD2Y

Keywords

Muscular Dystrophy; Myotonic Dystrophy; Limb Girdle Muscular Dystrophy; LGMD; LOPD; Late Onset Pompe Disease

Outcome Measures

Primary Outcomes (1)

• To explore the suitability and feasibility of the North Star Assessment for LGMD (NSAD) in the muscular dystrophies

  The NSAD is a functional scale specifically designed to measure motor performance in individuals with LGMD. It consists of 29 items that are considered clinically relevant items from the adapted North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54.

  Baseline to 24 months

Secondary Outcomes (6)

• To explore the utility of the 100 meter timed test as a clinical outcome assessment in the muscular dystrophies

  Baseline to 24 months

• To explore the utility of the Performance of the Upper Limb 2.0 (PUL 2.0) assessment as a clinical outcome assessment in the muscular dystrophies

  Baseline to 24 months

• To explore the utility of spirometry as a clinical outcome assessment in the muscular dystrophies

  Baseline to 24 months

• To explore the utility of the LGMD-HI questionnaire as a patient-reported outcome measure in the muscular dystrophies.

  Baseline to 24 months

• To explore the utility of the PROMIS-57 as a patient-reported outcome measure in the muscular dystrophies.

  Baseline to 24 months

Study Arms (1)

LGMD, DM2, LOPD

Eligibility Criteria

• Age: 6 Years - 50 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study seeks to enroll ambulatory individuals aged 6-50 years at enrollment who are clinically affected by LGMD, DM2, or LOPD.

You may qualify if:

• Age between 6-50 years at enrollment
• Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with proximal weakness)
• Genetic confirmation of a LGMD, DM2, or LOPD
• FVC above 30% of predicted

You may not qualify if:

• Any other illness that would interfere with the ability to undergo safe testing or would interfere with interpretation of the results in the opinion of the site investigator
• Participation in a clinical trial receiving an investigational product

Sponsors & Collaborators

• Virginia Commonwealth University: lead
• Muscular Dystrophy Association: collaborator

Study Sites (1)

Virginia Commonwealth University

Richmond, Virginia, 23298, United States

RECRUITING

Related Publications (21)

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  PMID: 34162720 BACKGROUND

• Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198.

  PMID: 29091557 BACKGROUND

• Pozsgai ER, Griffin DA, Heller KN, Mendell JR, Rodino-Klapac LR. Systemic AAV-Mediated beta-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice. Mol Ther. 2017 Apr 5;25(4):855-869. doi: 10.1016/j.ymthe.2017.02.013. Epub 2017 Mar 9.

  PMID: 28284983 BACKGROUND

• Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol. 2010 Nov;68(5):629-38. doi: 10.1002/ana.22251.

  PMID: 21031578 BACKGROUND

• Potter RA, Griffin DA, Sondergaard PC, Johnson RW, Pozsgai ER, Heller KN, Peterson EL, Lehtimaki KK, Windish HP, Mittal PJ, Albrecht DE, Mendell JR, Rodino-Klapac LR. Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy. Hum Gene Ther. 2018 Jul;29(7):749-762. doi: 10.1089/hum.2017.062. Epub 2017 Jul 13.

  PMID: 28707952 BACKGROUND

• Mayhew AG, Cano SJ, Scott E, Eagle M, Bushby K, Manzur A, Muntoni F; North Star Clinical Network for Neuromuscular Disease. Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol. 2013 Nov;55(11):1046-52. doi: 10.1111/dmcn.12220. Epub 2013 Aug 5.

  PMID: 23909763 BACKGROUND

• Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Diaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmuller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium. The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug.

  PMID: 27602406 BACKGROUND

• James MK, Alfano LN, Muni-Lofra R, Reash NF, Sodhi J, Iammarino MA, Moat D, Shannon K, McCallum M, Richardson M, Eagle M, Straub V, Marini-Bettolo C, Lowes LP, Mayhew AG. Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies. Phys Ther. 2022 Oct 6;102(10):pzac113. doi: 10.1093/ptj/pzac113.

  PMID: 35932452 BACKGROUND

• Hunter M, Heatwole C, Wicklund M, Weihl CC, Mozaffar T, Statland JM, Johnson NE. Limb-girdle muscular dystrophy: A perspective from adult patients on what matters most. Muscle Nerve. 2019 Oct;60(4):419-424. doi: 10.1002/mus.26636. Epub 2019 Jul 24.

  PMID: 31298728 BACKGROUND

• Arrigoni F, De Luca A, Velardo D, Magri F, Gandossini S, Russo A, Froeling M, Bertoldo A, Leemans A, Bresolin N, D'angelo G. Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B. Muscle Nerve. 2018 Oct;58(4):550-558. doi: 10.1002/mus.26189. Epub 2018 Aug 22.

  PMID: 30028523 BACKGROUND

• Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CD, Thornton JS, Bushby K, Lochmuller H, Hanna MG, Hogrel JY, Carlier PG, Vissing J, Straub V. Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. PLoS One. 2014 Feb 28;9(2):e90377. doi: 10.1371/journal.pone.0090377. eCollection 2014.

  PMID: 24587344 BACKGROUND

• Murphy AP, Morrow J, Dahlqvist JR, Stojkovic T, Willis TA, Sinclair CDJ, Wastling S, Yousry T, Hanna MS, James MK, Mayhew A, Eagle M, Lee LE, Hogrel JY, Carlier PG, Thornton JS, Vissing J, Hollingsworth KG, Straub V. Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints. Ann Clin Transl Neurol. 2019 May 16;6(6):1033-1045. doi: 10.1002/acn3.774. eCollection 2019 Jun.

  PMID: 31211167 BACKGROUND

• Reyngoudt H, Marty B, Boisserie JM, Le Louer J, Koumako C, Baudin PY, Wong B, Stojkovic T, Behin A, Gidaro T, Allenbach Y, Benveniste O, Servais L, Carlier PG. Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases. Eur Radiol. 2021 Jun;31(6):4264-4276. doi: 10.1007/s00330-020-07487-0. Epub 2020 Nov 21.

  PMID: 33219846 BACKGROUND

• Reyngoudt H, Smith FE, Caldas de Almeida Araujo E, Wilson I, Fernandez-Torron R, James MK, Moore UR, Diaz-Manera J, Marty B, Azzabou N, Gordish H, Rufibach L, Hodgson T, Wallace D, Ward L, Boisserie JM, Le Louer J, Hilsden H, Sutherland H, Canal A, Hogrel JY, Jacobs M, Stojkovic T, Bushby K, Mayhew A; Jain Clinical Outcome Study for Dysferlinopathy consortium; Straub V, Carlier PG, Blamire AM. Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy. J Cachexia Sarcopenia Muscle. 2022 Jun;13(3):1850-1863. doi: 10.1002/jcsm.12987. Epub 2022 Apr 3.

  PMID: 35373496 BACKGROUND

• Barnard AM, Willcocks RJ, Finanger EL, Daniels MJ, Triplett WT, Rooney WD, Lott DJ, Forbes SC, Wang DJ, Senesac CR, Harrington AT, Finkel RS, Russman BS, Byrne BJ, Tennekoon GI, Walter GA, Sweeney HL, Vandenborne K. Skeletal muscle magnetic resonance biomarkers correlate with function and sentinel events in Duchenne muscular dystrophy. PLoS One. 2018 Mar 19;13(3):e0194283. doi: 10.1371/journal.pone.0194283. eCollection 2018.

  PMID: 29554116 BACKGROUND

• Willcocks RJ, Arpan IA, Forbes SC, Lott DJ, Senesac CR, Senesac E, Deol J, Triplett WT, Baligand C, Daniels MJ, Sweeney HL, Walter GA, Vandenborne K. Longitudinal measurements of MRI-T2 in boys with Duchenne muscular dystrophy: effects of age and disease progression. Neuromuscul Disord. 2014 May;24(5):393-401. doi: 10.1016/j.nmd.2013.12.012. Epub 2014 Jan 11.

  PMID: 24491484 BACKGROUND

• Burakiewicz J, Sinclair CDJ, Fischer D, Walter GA, Kan HE, Hollingsworth KG. Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy. J Neurol. 2017 Oct;264(10):2053-2067. doi: 10.1007/s00415-017-8547-3. Epub 2017 Jul 1.

  PMID: 28669118 BACKGROUND

• Willcocks RJ, Rooney WD, Triplett WT, Forbes SC, Lott DJ, Senesac CR, Daniels MJ, Wang DJ, Harrington AT, Tennekoon GI, Russman BS, Finanger EL, Byrne BJ, Finkel RS, Walter GA, Sweeney HL, Vandenborne K. Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort. Ann Neurol. 2016 Apr;79(4):535-47. doi: 10.1002/ana.24599. Epub 2016 Feb 19.

  PMID: 26891991 BACKGROUND

• Comi GP, Niks EH, Cinnante CM, Kan HE, Vandenborne K, Willcocks RJ, Velardo D, Ripolone M, van Benthem JJ, van de Velde NM, Nava S, Ambrosoli L, Cazzaniga S, Bettica PU. Characterization of patients with Becker muscular dystrophy by histology, magnetic resonance imaging, function, and strength assessments. Muscle Nerve. 2022 Mar;65(3):326-333. doi: 10.1002/mus.27475. Epub 2021 Dec 30.

  PMID: 34918368 BACKGROUND

• Batra A, Lott DJ, Willcocks R, Forbes SC, Triplett W, Dastgir J, Yun P, Reghan Foley A, Bonnemann CG, Vandenborne K, Walter GA. Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study. J Neuromuscul Dis. 2020;7(4):407-417. doi: 10.3233/JND-190457.

  PMID: 32538860 BACKGROUND

• Pane M, Coratti G, Brogna C, Mazzone ES, Mayhew A, Fanelli L, Messina S, D'Amico A, Catteruccia M, Scutifero M, Frosini S, Lanzillotta V, Colia G, Cavallaro F, Rolle E, De Sanctis R, Forcina N, Petillo R, Barp A, Gardani A, Pini A, Monaco G, D'Angelo MG, Zanin R, Vita GL, Bruno C, Mongini T, Ricci F, Pegoraro E, Bello L, Berardinelli A, Battini R, Sansone V, Albamonte E, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E. Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. PLoS One. 2018 Jun 20;13(6):e0199223. doi: 10.1371/journal.pone.0199223. eCollection 2018.

  PMID: 29924848 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be collected for biomarker development and retained for future research. No clinical diagnosis will be given to patients as part of this study.

MeSH Terms

Conditions

Limb-girdle muscular dystrophy, type 1B; Muscular Dystrophy, Limb-Girdle, Type 1C; Muscular Dystrophy, Limb-Girdle, Type 1D; Muscular Dystrophy, Limb-Girdle, Type 1E; Muscular Dystrophy, Limb-Girdle, Type 1F; Limb-Girdle Muscular Dystrophy, Type 1G; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy, type 2B; Limb-girdle muscular dystrophy, type 2C; Sarcoglycanopathies; Limb-girdle muscular dystrophy, type 2E; Limb-girdle muscular dystrophy type 2F; Muscular Dystrophy, Limb-Girdle, Type 2G; Muscular Dystrophy, Limb-Girdle, Type 2I; Muscular Dystrophy, Limb-Girdle, Type 2J; Walker-Warburg Syndrome; Muscular Dystrophy, Limb-Girdle, Type 2L; Muscular Dystrophy, Limb-Girdle, Type 2M; Muscular Dystrophies; Myotonic Dystrophy; Muscular Dystrophies, Limb-Girdle

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Respiration Disorders; Respiratory Tract Diseases; Neuromuscular Diseases; Nervous System Diseases; Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cobblestone Lissencephaly; Lissencephaly; Malformations of Cortical Development, Group II; Malformations of Cortical Development; Nervous System Malformations; Eye Diseases, Hereditary; Eye Diseases; Congenital Abnormalities; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases

Study Officials

• Nicholas Johnson, MD

  Virginia Commonwealth University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jennifer Raymond

CONTACT

804-828-6318; Jennifer.Raymond@vcuhealth.org

Ruby Langeslay

CONTACT

Ruby.Langeslay@vcuhealth.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 2, 2023
• First Posted: August 14, 2023
• Study Start: October 18, 2023
• Primary Completion (Estimated): October 1, 2028
• Study Completion (Estimated): May 1, 2029
• Last Updated: November 18, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)