Molecular Analysis of Patients With Neuromuscular Disease

NCT ID: NCT00390104

Last Updated: 2023-04-24

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 1000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2002-01-31
• Study Completion Date: 2027-12-31

Brief 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.

Detailed 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.

Conditions

Neuromuscular; Disorder, Hereditary; Duchenne/Becker Muscular Dystrophy; Limb-girdle Muscular Dystrophy

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

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

• Minimum Eligible Age: 1 Week
• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role: collaborator

Boston Children's Hospital

OTHER

Sponsor Role: lead

Responsible Party

Louis Kunkel

Professor of Genetics and Pediatrics, Harvard Medical School

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Louis M Kunkel, PhD

Role: PRINCIPAL_INVESTIGATOR

Boston Children's Hospital/Harvard Medical School

Locations

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Elicia A Estrella, MS, LCGC

Role: CONTACT

elicia.estrella@childrens.harvard.edu

617-919-4552

Casie Genetti, MS,LCGC

Role: CONTACT

Casie.Genetti@childrens.harvard.edu

617-919-2169

Facility Contacts

Elicia A Estrella, MS, LCGC

Role: primary

elicia.estrella@childrens.harvard.edu

617-919-4552

Casie Genetti, MS, LCGC

Role: backup

Casie.Genetti@childrens.harvard.edu

617-919-2169

References

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.

Reference Type: BACKGROUND

PMID: 30345904 (View on PubMed)

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 Sci U S A. 2017 Jun 6;114(23):6080-6085. doi: 10.1073/pnas.1703556114. Epub 2017 May 22.

Reference Type: RESULT

PMID: 28533404 (View on PubMed)

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 for LGMD in the United States. J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6.

Reference Type: RESULT

PMID: 27708273 (View on PubMed)

Other Identifiers

5R01NS080929

Identifier Type: NIH

Identifier Source: secondary_id

View Link

03-12-205

Identifier Type: -

Identifier Source: org_study_id