Molecular Analysis of Patients With Neuromuscular Disease

NCT00390104 | Recruiting DMC

• 2 other identifiers: 03-12-2055R01NS080929
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Neuromuscular Disease; Muscle weakness; Muscle atrophy

Eligibility Criteria

• Age: 1 Week - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Families will be ascertained world-wide as the muscular dystrophies are a pan-ethinic group of diseases.

You may qualify if:

• having a clinical and/or pathological diagnosis of a muscular dystrophy
• being the first degree relative of someone with such a diagnosis
• having had a muscle biopsy if diagnosed with a neuromuscular disease
• willingness to provide a skin biopsy for research only

You may not qualify if:

• not having a neuromuscular diagnosis in you or a family member
• not wishing to participate
• being incapable of giving consent and not having a legal guardian willing or able to do so

Sponsors & Collaborators

• Boston Children's Hospital: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Related Publications (3)

• 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.

  PMID: 30345904 BACKGROUND

• 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.

  PMID: 28533404 RESULT

• 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.

  PMID: 27708273 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

DNA from blood or saliva from proband, Muscle tissue from proband, DNA from blood or saliva from family members, Skin biopsy from proband and family members

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne; Muscular Dystrophies, Limb-Girdle; Neuromuscular Diseases; Muscle Weakness; Muscular Atrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neuromuscular Manifestations; Neurologic Manifestations; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Atrophy; Pathological Conditions, Anatomical

Study Officials

• Louis M Kunkel, PhD

  Boston Children's Hospital/Harvard Medical School

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Elicia A Estrella, MS, LCGC

CONTACT

617-919-4552; elicia.estrella@childrens.harvard.edu

Casie Genetti, MS,LCGC

CONTACT

617-919-2169; Casie.Genetti@childrens.harvard.edu

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Genetics and Pediatrics, Harvard Medical School

Study Record Dates

• First Submitted: October 17, 2006
• First Posted: October 19, 2006
• Study Start: January 1, 2002
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2027
• Last Updated: April 24, 2023

Record last verified: 2023-04

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ANALYTIC CODE
• Time Frame: Once a participant is enrolled, we will keep the data indefinitely.
• Access Criteria: Data will only be shared with collaborating scientists once a patient enrolls. Data will be shared according to choice on individual consent forms.

Locations

US (1)