Molecular Analysis of Patients With Neuromuscular Disease

Limb-girdle Muscular Dystrophy Clinical Trial

Official title:

Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT00390104
• Other study ID #: 03-12-205
• Secondary ID: 5R01NS080929
• Status: Recruiting
• Start date: January 2002
• Est. completion date: December 31, 2027

Study information

• Verified date: April 2023
• Source: Boston Children's Hospital
• Contact: Elicia A Estrella, MS, LCGC
• Phone: 617-919-4552
• Email: elicia.estrella[@]childrens.harvard.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.

Description:

We are looking to discover new disease genes responsible for the neuromuscular diseases found in our participants and their families. Our research lab has a long history of identifying novel genes responsible for various forms of neuromuscular disease including; DMD gene, the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsy samples in patients with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology, which we hope will aid in finding new treatments.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: December 31, 2027
• Est. primary completion date: December 31, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Week to 100 Years

Eligibility

The samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups and their family members.

Inclusion criteria:

1. having a clinical and/or pathological diagnosis of a muscular dystrophy

2. being the first degree relative of someone with such a diagnosis

3. having had a muscle biopsy if diagnosed with a neuromuscular disease

4. willingness to provide a skin biopsy for research only

Exclusion Criteria:

1. not having a neuromuscular diagnosis in you or a family member

2. not wishing to participate

3. being incapable of giving consent and not having a legal guardian willing or able to do so

Related Conditions & MeSH terms

• Limb-girdle Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne
• Neuromuscular Diseases
• Neuromuscular; Disorder, Hereditary

Locations

Country	Name	City	State
United States	Boston Children's Hospital	Boston	Massachusetts

Sponsors (2)

Lead Sponsor	Collaborator
Boston Children's Hospital	National Institute of Neurological Disorders and Stroke (NINDS)

Country where clinical trial is conducted

United States, 

References & Publications (3)

Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations — View Citation

Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31. — View Citation

Vieira NM, Spinazzola JM, Alexander MS, Moreira YB, Kawahara G, Gibbs DE, Mead LC, Verjovski-Almeida S, Zatz M, Kunkel LM. Repression of phosphatidylinositol transfer protein alpha ameliorates the pathology of Duchenne muscular dystrophy. Proc Natl Acad S — View Citation