Areas of Focus

ITF Therapeutics was launched with a clear purpose: to partner closely with the Duchenne muscular dystrophy community and deliver meaningful impact for individuals affected by Duchenne.

Guided by this commitment to building patient-focused partnerships that drive meaningful results, we are expanding our portfolio to include additional rare disease therapies.

DMD Incidence

1 in 5,000

Male newborns worldwide

Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a rare neuromuscular disorder characterized by progressive muscle weakness and damage.1,2 It occurs almost exclusively in males because it is caused by a mutation in the X-linked dystrophin gene.1,2 In about 30% of cases, this mutation happens spontaneously before birth and is not inherited from a parent.3

Duchenne affects families around the world, with an estimated incidence of 1 in 5,000 male newborns.1 Female can be diagnosed with Duchenne, although the incidence is much more rare.4

How does Duchenne affect the body?
Duchenne is caused by the absence of dystrophin, a protein that helps protect muscle cells from damage.2 The muscles of a person with Duchenne are vulnerable to damage from everyday activities.5

While healthy muscle can repair itself, muscles affected by Duchenne are less able to regenerate.1,2,6 Over time, repeated damage leads to inflammation, and muscle tissue is gradually replaced by scar tissue and fat.6,7 As this process continues, muscles lose strength and function, resulting in progressive weakness.2

Meet Joey

“I’ve met a lot of celebrities. I’m kind of a celebrity magnet. It’s pretty cool when people come up to me. I don’t know, people just like to say hi to me.”

Learn more
  1. Ryder S, Leadley RM, Armstrong N, Westwood M, de Kock S, Butt T, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017;12(1):79.
  2. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251-67.
  3. Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, Mathews KD, Miller TM, Matthews DJ, Miller LA, Cunniff C, Druschel CM, Moxley RT. Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr. 2009 Sep;155(3):380-5.
  4. Song TJ, Lee KA, Kang SW, Cho H, Choi YC. Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy. Yonsei Med J. 2011 Jan;52(1):192-5.
  5. Duan, D., Goemans, N., Takeda, S. et al. Duchenne muscular dystrophy. Nat Rev Dis Primers 7, 13 (2021).
  6. Theret M, Rossi FMV, Contreras O. Evolving roles of muscle-resident fibro-adipogenic progenitors in health, regeneration, neuromuscular disorders, and aging. Front Physiol. 2021;12:673404.
  7. Giuliani G, Rosina M, Reggio A. Signaling pathways regulating the fate of fibro/adipogenic progenitors (FAPs) in skeletal muscle regeneration and disease. FEBS J. 2022;289(21):6484-6517