Multidisciplinary Care Team

Optimal care for XLMTM should be provided by an integrated, multidisciplinary team with a neuromuscular specialist at the helm.1,2

Neurologist (pediatric neuromuscular specialist)

  • Patient and family support and point of contact responsible for informing and educating medical team on specific care needs and prognosis

Surgery/anesthesia

  • Intensive monitoring during anesthesia
  • Avoidance of intubation if possible
  • Avoidance of succinylcholine and inhalational agents

Pulmonologist/Respiratory
therapist

  • Assessment of pulmonary function for long-term ventilation management
    Tracheostomy
    Polysomnography (a sleep study) every 1—3 years
    Secretion management
    Train families/caregivers on respiratory management (respiratory therapist)

Orthopedics

  • Evaluation for orthopedic complications
  • Scoliosis and contracture examinations
  • Prevention and treatment of bone fractures and hip dysplasia

Gastroenterologist

  • Investigations and treatment for pyloric stenosis, reflux, gallstones and kidney stones
  • Feeding tube placement
  • Constipation management

General practitioner

  • Maintenance of healthy body weight, good nutrition
  • Routine immunizations, pneumococcal and influenza vaccines
  • Prophylactic antibiotics

Ophthalmologist

  • Examinations for ophthalmoplegia, ptosis and myopia
  • Protective assessment of effect of impaired eyelid closure

Physical/occupational therapist

  • Feeding, swallowing assessment, speech therapy
  • Promotion of physical activity and assisted ambulation and mobility
  • Management of pain and fatigue

Hepatologist

  • Routine liver function tests and abdominal ultrasound to address risk of hepatic peliosis and hepatobiliary diseasee2-6

Ear-nose-throat specialist/speech therapist

  • Speech development and airway support

Geneticist/genetic counselor

  • Genetic testing to establish diagnosis
  • Implications of genetic diagnosis for family planning and for other family members

Nutritionist

  • Managing food intake to provide sufficient and balanced nutrition

Patients with XLMTM require intensive long-term medical care. Interventions primarily offer supportive care similar to that for managing other congenital myopathies.2 Currently, there are no treatments for XLMTM, and neither respiratory nor motor function improves over time with the current standard of care.7-10

 

Urgent and immediate requirements for severe XLMTM:

 

  • Prolonged, constant ventilation support2-9
  • Endotracheal tube or tracheostomy placement to facilitate ventilator support2
  • Gastrostomy tube placement to ensure adequate nutrition2

Patients with XLMTM, regardless of severity, require extensive, lifelong at-home support and assistance with daily activities.1,2, 11, 12 Clinicians can help educate caregivers on how to perform these duties at home, where to find equipment, and ways to connect with other organizations for resources and support.

 


At-home care can entail:

 

  • 24-hour monitoring
  • Assistance with activities of daily living (feeding, toileting, bathing, etc.)
  • Home health and nursing care/support
  • Specialized equipment needs (e.g., chair lifts, assistive communication devices)
  • Use of noninvasive positive pressure support, or bilevel positive airway pressure (BiPAP), for intermittent respiratory support in patients with moderate or mild XLMTM
  • Physical and occupational therapy

Significant pharyngeal or respiratory muscle weakness results in reduced effectiveness of cough for patients with XLMTM.13 Patients have difficulties sufficiently clearing mucus secretions, thereby increasing their risk of infection or aspiration pneumonia.

 

Routine management—often multiple times per hour or more frequently if respiratory illness is present—includes use of:1

  • Mechanical- and manual-assisted cough techniques to clear airway secretions
  • Secretion mobilization techniques 

Caregiver support groups are a good source of information and tips for navigating daily care outside the clinical setting. For more resources, visit our dedicated For Caregivers section.

Therapies in development

Currently, supportive management is the only treatment option for XLMTM.


Researchers are exploring the potential of gene therapy to correct the underlying cause of disease. Gene therapies that aim to introduce a functional copy of MTM1 are currently in clinical development.4,14-16

 

For more information about emerging treatments and clinical trials, visit clinicaltrials.gov and search “XLMTM” in the “Condition/disease” bar.

Ongoing research and natural history studies

Registries and epidemiologic studies are underway to better understand the features and disease course of XLMTM in affected male and female patients. Examples include:

Epidemiologic Study of XLMTM and Clinical Expression in the Liver (EXCEL): a prospective, observational, multicenter clinical study evaluating hepatobiliary health in patients with XLMTM5,17

The Myotubular and Centronuclear Myopathy Patient Registry: a registry organized by the Myotubular Trust that includes patients with XLMTM

The Congenital Muscular Dystrophy International Registry (CMDIR): a registry with global reach that includes many congenital muscle disorders, including XLMTM

We’re here to help clinicians navigate the XLMTM diagnostic and treatment journey.

For inquiries from US healthcare professionals, please contact Astellas Medical Affairs at medinfo.us@astellas.com.

Clear, reliable information and support are vital for both healthcare professionals and caregivers navigating this rare condition.

References

 

1. Wang CH, Dowling JJ, North K, et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol. 2012;27(3):363-382. doi:10.1177/0883073812436605 2. Dowling JJ, Lawlor MW, Das S. X-linked myotubular myopathy. In: Adam MP, Bick S, Mirzaa GM, et al., eds. GeneReviews® [Internet]. Updated August 23, 2018. Accessed November 17, 2025. https://www.ncbi.nlm.nih.gov/books/NBK1432/ 3. D'Amico A, Longo A, Fattori F, et al. Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies. Orphanet J Rare Dis. 2021;16(1):425. doi: 10.1186/s13023-021-02055-1 4. Shieh PB, Kuntz NL, Dowling JJ, et al. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label dose-escalation trial. Lancet Neurol. 2023;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7 5. Beggs A, Haslekorn T, Dhawan A, et al. 49P Epidemiologic study of XL-MTM and clinical expression in the liver (EXCEL): study design of an observational, patient-centric study. Neuromuscul Disord. 2024;43(Suppl 1):104441.247. doi:10.1016/j.nmd.2024.07.256 6. Myotubular Trust Fact sheet: https://myotubulartrust.org/managing-your-liver/ 7. Amburgey K, Tsuchiya E, de Chastonay S, et al. A natural history study of X-linked myotubular myopathy. Neurology. 2017;89(13):1355-1364. doi:10.1212/WNL.0000000000004415 8. Annoussamy M, Lilien C. Gidaro T, et al. X-linked myotubular myopathy: A prospective international natural history study. Neurology. 2019;92(16):e1852-e1867. doi:10.1212/WNL.0000000000007319 9. Graham RJ, Muntoni F, Hughes I, et al. Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Arch Dis Child. 2020;105(4):332-338. doi:10.1136/archdischild-2019-317910 10. Dowling JJ, Müller-Felber W, Smith BK, et al. INCEPTUS natural history, run-in study for gene replacement clinical trial in X-linked myotubular myopathy. J Neuromuscul Dis. 2022;9(4):503-516. doi:10.3233/JND-210781 11. Graham RJ, Darras BT, Haselkorn T, et al. Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States. Orphanet J Rare Dis. 2023;18(1):138. doi: 10.1186/s13023-023-02733-2 12. Lawlor MW, Dowling JJ. X-linked myotubular myopathy. Neuromuscul Disord. 2021;31(10).1004-1012. doi:10.1016/j.nmd.2021.08.003 13. Smith BK, Goddard M, Childers MK. Respiratory assessment in centronuclear myopathies. Muscle Nerve. 2014;50(3):315-326. doi:10.1002/mus.24249 14. Martin C, Servais L. X-linked myotubular myopathy: an untreated treatable disease. Expert Opin Biol Ther. 2025;25(4):379-394. doi: 10.1080/14712598.2025.2473430 15. Study of ASP2957 in male participants with X-linked myotubular myopathy who need ventilators; NCT07052929. Clinicaltrials.gov. Updated October 8, 2025. https://clinicaltrials.gov/study/NCT07052929. Accessed January 5, 2026 16. Ganguli A, Gentyala R, Graham R, et al. 74P Design of a phase 1/2 study assessing the safety and preliminary efficacy of ASP2957 gene therapy for X-linked myotubular myopathy (XLMTM). Neuromuscul Disord. 2025;53(Suppl):105855. doi: 10.1016/j.nmd.2025.105855 17. A study to check liver health in boys with XLMTM, a serious genetic muscle condition (EXCEL); NCT06581146. Clinicaltrials.gov. Updated December 2, 2025. https://clinicaltrials.gov/study/NCT06581146. Accessed January 5, 2026.