Nutritional Status and Therapy in DMD Patients

NCT06682585 | Completed DMC

• 1 other identifier: 111-659-22
• Study Type: interventional
• Target: 9
• Locations: 1 country
• Sites: 1

Brief Summary

Brief Summary The goal of this clinical trial is to evaluate the impact of a disease-specific, individualized diet on the nutritional status and functional abilities of Duchenne muscular dystrophy (DMD) patients. The study will focus on children aged 4-8 years residing in Ankara, Turkey. Key questions the investigators aim to answer: Can a tailored dietary intervention improve the nutritional status of DMD patients? Does a specialized diet positively impact the functional abilities of DMD patients, as measured by the North Star Ambulation Assessment (NSAA)? Participants will undergo a comprehensive nutritional assessment, including anthropometric measurements, and will receive individualized dietary counseling. The intervention will focus on optimizing energy, protein, calcium, and fluid intake, as well as addressing the potential side effects of corticosteroid therapy. The primary outcome measure will be changes in nutritional status, as assessed by anthropometric measurements. Secondary outcome measures will include changes in functional abilities as measured by the NSAA and quality of life assessments.

Conditions

Duchenne Muscular Dystrophy (DMD)

Keywords

Duchenne Muscular Dystrophy; Nutrition

Outcome Measures

Primary Outcomes (4)

• Anthropometric measurements

  Changes in body weight (kg). Body weight will be measured with an electronic scale sensitive to 0.1 kilograms.

  From enrollment to the end of diet at 12 weeks

• Anthropometric measurements

  Changes in skinfold thickness (triceps, biceps, subscapular, and suprailiac) (in millimeters) Skinfold thickness will be compared to the World Health Organization's percentile and Z score charts to determine adequacy, deficiency, or excess.

  From enrollment to the end of diet at 12 weeks

• Anthropometric measurements

  Changes in height (cm). Height is measured with the individual standing upright and the head in the Frankfurt plane (the orbitale point and tragion point are set to be on the horizontal plane), while the vertical distance from the ground to the vertex, which is the highest point of the head, will be measured with a tape measure on a fixed plane.

  From enrollment to the end of diet at 12 weeks

• Anthropometric measurements

  Changes in Body Mass Index (BMI)(kg/m²). BMI will be obtained by dividing the particioant's body weight in kg by the square of the height in meters. Body mass index will be evaluated with the World Health Organization's percentile and Z score charts.

  From enrollment to the end of diet at 12 weeks

Secondary Outcomes (2)

• Functional Ability

  From enrollment to the end of diet at 12 weeks

• Functional Ability

  From enrollment to the end of diet at 12 weeks

Other Outcomes (1)

• Dietary Adherence

  From enrollment to the end of diet at 12 weeks

Study Arms (1)

Dietary Intervention

EXPERIMENTAL

The participants of the arm will follow diet program specially prepared for them for 12 weeks.

Other: Individualised dietary intervention

Interventions

Individualised dietary intervention OTHER

* Energy Intake: Caloric needs will be calculated based on the patient's age, weight, and activity level, taking into account the potential impact of corticosteroid therapy on energy expenditure. * Protein Intake: Protein requirements will be met through a balanced diet, aiming to optimize muscle protein synthesis. * Calcium and Vitamin D Intake: Adequate intake of these nutrients will be emphasized to support bone health and prevent osteoporosis. * Fluid Intake: Fluid intake will be monitored to prevent dehydration and constipation. * Carbohydrate Intake: A low-glycemic index diet will be recommended to manage blood glucose levels and insulin resistance, especially in patients on corticosteroid therapy. * Sodium Intake: Sodium intake will be restricted to minimize fluid retention and hypertension.

Dietary Intervention

Eligibility Criteria

• Age: 48 Months - 96 Months
• Gender Eligibility Details: Duchenne Muscular Dystrophy is caused by a defect in the dystrophin gene encoded in the Xp21 region of the X chromosome. Since it originates from the X chromosome, it is inherited from the mother, and while boys develop the disease, girls continue their lives as carriers.
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Clinical diagnosis of Duchenne Muscular Dystrophy (DMD) Must be between 4 and 8 years old Able to ambulate independently Must be residing in Ankara province, Turkey Must be willing to participate and adhere to the dietary intervention, as confirmed by both the patient and their legal guardian(s) Must be currently receiving corticosteroid therapy

You may not qualify if:

• Inability to read and write in Turkish Wheelchair-bound or unable to ambulate independently Significant liver or kidney dysfunction Scheduled for major surgery within 6 months of study enrollment Symptoms of dysphagia and swallowing difficulties Significant respiratory distress or respiratory insufficiency requiring mechanical ventilation.

Sponsors & Collaborators

• Ankara University: lead

Study Sites (1)

DMD Aileleri Derneği

Ankara, Çankaya, 06530, Turkey (Türkiye)

Location

Related Publications (12)

• Summer SS, Wong BL, Rutter MM, Horn PS, Tian C, Rybalsky I, Shellenbarger KC, Kalkwarf HJ. Age-related changes in appendicular lean mass in males with Duchenne muscular dystrophy: A retrospective review. Muscle Nerve. 2021 Feb;63(2):231-238. doi: 10.1002/mus.27107. Epub 2020 Dec 7.

  PMID: 33104257 BACKGROUND

• Guzikowska E, Markiewicz-Loskot G, Hercog R. [Serum opsonization activity in children with recurrent respiratory tract infections]. Pediatr Pol. 1986 Dec;61(12):780-3. No abstract available. Polish.

  PMID: 3601481 BACKGROUND

• Billich N, Evans M, Truby H, Ryan MM, Davidson ZE. The association between dietary factors and body weight and composition in boys with Duchenne muscular dystrophy. J Hum Nutr Diet. 2022 Oct;35(5):804-815. doi: 10.1111/jhn.12987. Epub 2022 Feb 1.

  PMID: 34936149 BACKGROUND

• de Souza Costa AD, Vermeulen-Serpa KM, Batista Marinho KM, Carvalho Xavier de Medeiros CA, Antunes de Araujo A, Teixeira Dourado-Junior ME, Brandao-Neto J, Lima Maciel BL, Helena de Lima Vale S. Persistent inflammation and nutritional status in Duchenne muscular dystrophy. Clin Nutr ESPEN. 2024 Jun;61:393-398. doi: 10.1016/j.clnesp.2024.04.014. Epub 2024 Apr 20.

  PMID: 38777460 BACKGROUND

• Chou E, Lindeback R, D'Silva AM, Sampaio H, Neville K, Farrar MA. Growth and nutrition in pediatric neuromuscular disorders. Clin Nutr. 2021 Jun;40(6):4341-4348. doi: 10.1016/j.clnu.2021.01.013. Epub 2021 Jan 22.

  PMID: 33551221 BACKGROUND

• Davidson ZE, Ryan MM, Kornberg AJ, Sinclair K, Cairns A, Walker KZ, Truby H. Observations of body mass index in Duchenne muscular dystrophy: a longitudinal study. Eur J Clin Nutr. 2014 Aug;68(8):892-7. doi: 10.1038/ejcn.2014.93. Epub 2014 May 14.

  PMID: 24824013 BACKGROUND

• Duan D, Goemans N, Takeda S, Mercuri E, Aartsma-Rus A. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021 Feb 18;7(1):13. doi: 10.1038/s41572-021-00248-3.

  PMID: 33602943 BACKGROUND

• Garcia-Rodriguez R, Hiller M, Jimenez-Gracia L, van der Pal Z, Balog J, Adamzek K, Aartsma-Rus A, Spitali P. Premature termination codons in the DMD gene cause reduced local mRNA synthesis. Proc Natl Acad Sci U S A. 2020 Jul 14;117(28):16456-16464. doi: 10.1073/pnas.1910456117. Epub 2020 Jul 2.

  PMID: 32616572 BACKGROUND

• Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 2006 Aug;34(2):135-44. doi: 10.1002/mus.20586.

  PMID: 16770791 BACKGROUND

• Mercuri E, Bonnemann CG, Muntoni F. Muscular dystrophies. Lancet. 2019 Nov 30;394(10213):2025-2038. doi: 10.1016/S0140-6736(19)32910-1.

  PMID: 31789220 BACKGROUND

• Davis J, Samuels E, Mullins L. Nutrition Considerations in Duchenne Muscular Dystrophy. Nutr Clin Pract. 2015 Aug;30(4):511-21. doi: 10.1177/0884533615586202. Epub 2015 May 14.

  PMID: 25977513 BACKGROUND

• Bernabe-Garcia M, Rodriguez-Cruz M, Atilano S, Cruz-Guzman ODR, Almeida-Becerril T, Calder PC, Gonzalez J. Body composition and body mass index in Duchenne muscular dystrophy: Role of dietary intake. Muscle Nerve. 2019 Mar;59(3):295-302. doi: 10.1002/mus.26340. Epub 2018 Dec 12.

  PMID: 30194761 BACKGROUND

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SUPPORTIVE CARE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator, Dietitian, PhD Student

Study Record Dates

• First Submitted: November 5, 2024
• First Posted: November 12, 2024
• Study Start: November 18, 2024
• Primary Completion: February 20, 2025
• Study Completion: February 21, 2025
• Last Updated: November 21, 2025

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will not share

Locations

TU (1)