Clinical Trial Details
— Status: Not yet recruiting
Administrative data
| NCT number |
NCT06399770 |
| Other study ID # |
Limb-girdle muscular dystrophy |
| Secondary ID |
|
| Status |
Not yet recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
June 1, 2024 |
| Est. completion date |
July 1, 2026 |
Study information
| Verified date |
May 2024 |
| Source |
Assiut University |
| Contact |
Abanoub Bassem Fikry |
| Phone |
+201210927033 |
| Email |
Abanoubbassem2[@]icloud.Com |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
1. to detect the characteristic patterns of muscle involvement in suspected cases of LGMD
using muscle ultrasound
2. to use the muscle ultrasound findings clinically categorized the different types of LGMD
3. to correlate the muscle ultrasound findings with the findings of the other assissed
scales
Description:
Limb-girdle muscular dystrophies (LGMD) are muscular dystrophies that affect skeletal
muscles, mostly proximal (hips and shoulder muscles). They are caused by a mutation in a gene
encoding a protein, which is specific to each subtype. LGMD inheritance is either autosomal
dominant or recessive. Several types of LGMD were described depending on the causative
mutations (1). LGMD is one of inherited myopathies that characterized by selective
involvement of muscles. Selectivity is a sign of muscle diseases and helps direct the
diagnosis; however, it cannot always be identified clinically; consequently, the importance
of using muscle MRI and ultrasound are to detect this selectivity and aid in the diagnosis
(2). Ultrasound with a high resolution enables viewing of the muscle, nerve, and nearby
structures and can provide real-time information in neuromuscular illnesses (3). Muscle
Ultrasound (MUS) can detect the same patterns of muscle affection as MRI (4). In addition, it
is safe, accessible, low-cost, and free of ionizing radiation, with no known
contraindications and no difficulties associated with MRI, such as claustrophobia, metallic
implants, and the requirement for sedation in children; hence, it can be used as a
supplemental technique to electro- diagnosis (5). Ultrasound can provide real-time
information related to muscle activation and movement patterns; so, selective substitution of
muscle ultrasound for MRI can result in significant cost-saving for the health care system
(6). However, its primary drawback is that it is operator-dependent and has a limited ability
to image deeper structures (7). According to studies, MUS can provide a key provisional
probable diagnosis, especially when genetic diagnosis is not accessible or expensive, or to
provide guide to the proper genetic testing when it is available (2, 8). In limb girdle
pattern of weakness patients, MUS assisted diagnose quadriceps sparing myopathy, selective
affection of one head of gastrocnemius as medial head and soleus more than lateral head in
FKRP (LGMD2I) and calpain-3 deficiency (LGMD2A), and selective affection of lateral head as
in LGMD2B.
(dysferlin) (9). MUS can also help diagnose the treatable types of limb girdle myopathies
like POPME by recognizing specific muscle involvement patterns (2). Few research (10),
utilized the MUS to detect suspected LGMD, and none compared the MUS findings with those of
the different psychometric measures. The present study aims to we aimed to evaluate the role
of MUS in the assessment of patients with suspected LGMD to identify characteristic patterns
these of muscle involvement in suspected cases of LGMD and to correlate changes with findings
of the different psychometric scales.
