Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy


Por: Statland, JM, Campbell, C, Desai, U, Karam, C, Diaz-Manera, J, Guptill, JT, Korngut, L, Genge, A, Tawil, RN, Elman, L, Joyce, NC, Wagner, KR, Manousakis, G, Amato, AA, Butterfield, RJ, Shieh, PB, Wicklund, M, Gamez, J, Bodkin, C, Pestronk, A, Weihl, CC, Vilchez-Padilla, JJ, Johnson, NE, Mathews, KD, Miller, B, Leneus, A, Fowler, M, van de Rijn, M, Attie, KM

Publicada: 1 jul 2022 Ahead of Print: 1 may 2022
Resumen:
Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy without approved therapies. In this study we evaluated whether locally acting ACE-083 could safely increase muscle volume and improve functional outcomes in adults with FSHD. Methods Participants were at least 18 years old and had FSHD1/FSHD2. Part 1 was open label, ascending dose, assessing safety and tolerability (primary objective). Part 2 was randomized, double-blind for 6 months, evaluating ACE-083240 mg/muscle vs placebo injected bilaterally every 3 weeks in the biceps brachii (BB) or tibialis anterior (TA) muscles, followed by 6 months of open label. Magnetic resonance imaging measures included total muscle volume (TMV; primary objective), fat fraction (FF), and contractile muscle volume (CMV). Functional measures included 6-minute walk test, 10-meter walk/run, and 4-stair climb (TA group), and performance of upper limb midlevel/elbow score (BB group). Strength, patient-reported outcomes (PROs), and safety were also evaluated. Results Parts 1 and 2 enrolled 37 and 58 participants, respectively. Among 55 participants evaluable in Part 2, the least-squares mean (90% confidence interval, analysis of covariance) treatment difference for TMV was 16.4% (9.8%-23.0%) in the BB group (P < .0001) and 9.5% (3.2%-15.9%) in the TA group (P = .01). CMV increased significantly in the BB and TA groups and FF decreased in the TA group. There were no consistent improvements in functional or PRO measures in either group. The most common adverse events were mild or moderate injection-site reactions. Discussion Significant increases in TMV with ACE-083 vs placebo did not result in consistent functional or PRO improvements with up to 12 months of treatment.

Filiaciones:
Statland, JM:
 Univ Kansas, Dept Neurol, Med Ctr, Kansas City, KS 66160 USA

Campbell, C:
 Univ Western Ontario, Dept Pediat & Clin Neurol Sci, London, ON, Canada

Desai, U:
 Atrium Hlth, Carolinas MDA Care Ctr, Charlotte, NC USA

Karam, C:
 Oregon Hlth & Sci Univ, Neuromuscular Div, Portland, OR 97201 USA

Diaz-Manera, J:
 Hosp Santa Creu & Sant Pau, Neuromuscular Dis Unit, Neurol Dept, Barcelona, Spain

 Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain

 Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England

Guptill, JT:
 Duke Univ, Dept Neurol, Sch Med, Durham, NC USA

Korngut, L:
 Univ Calgary, Calgary, AB, Canada

Genge, A:
 Montreal Neurol Inst, Montreal, PQ, Canada

Tawil, RN:
 Univ Rochester, Sch Med, Rochester, NY USA

Elman, L:
 Univ Penn, Philadelphia, PA 19104 USA

Joyce, NC:
 Univ Calif Davis, Med Ctr, Davis, CA 95616 USA

Wagner, KR:
 Johns Hopkins Sch Med, Kennedy Krieger Inst, Baltimore, MD USA

Manousakis, G:
 Univ Minnesota, Dept Neurol, Minneapolis, MN 55455 USA

Amato, AA:
 Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA

Butterfield, RJ:
 Univ Utah, Dept Neurol, Salt Lake City, UT USA

 Univ Utah, Dept Pediat, Salt Lake City, UT USA

Shieh, PB:
 Univ Calif Los Angeles, Los Angeles, CA USA

Wicklund, M:
 Univ Colorado, Aurora, CO USA

Gamez, J:
 European Reference Network Rare Neuromuscular Dis, Dept Med, GMA Clin, Barcelona, Spain

 Univ Autonoma Barcelona, Barcelona, Spain

Bodkin, C:
 Indiana Univ Sch Med, Indianapolis, IN 46202 USA

Pestronk, A:
 Washington Univ, Sch Med, St Louis, MO USA

Weihl, CC:
 Washington Univ, Sch Med, St Louis, MO USA

Vilchez-Padilla, JJ:
 Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain

 Hosp UIP La Fe, Neuromuscular Reference Ctr, Valencia, Spain

Johnson, NE:
 Virginia Commonwealth Univ, Richmond, VA USA

Mathews, KD:
 Univ Iowa, Carver Coll Med, Iowa City, IA USA

Miller, B:
 Acceleron Pharma, Cambridge, MA USA

Leneus, A:
 Acceleron Pharma, Cambridge, MA USA

Fowler, M:
 Acceleron Pharma, Cambridge, MA USA

van de Rijn, M:
 Acceleron Pharma, Cambridge, MA USA

Attie, KM:
 Acceleron Pharma, Cambridge, MA USA
ISSN: 0148639X
Editorial
WILEY, 111 RIVER ST, HOBOKEN 07030-5774, NJ USA, Estados Unidos America
Tipo de documento: Article
Volumen: 66 Número: 1
Páginas: 50-62
WOS Id: 000792273300001
ID de PubMed: 35428982
imagen Green Published, Hybrid Gold, Green

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