Molecular Analysis of Patients With Neuromuscular Disease
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology, Orthopedic |
| Therapuetic Areas: | Neurology, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | Any - 100 |
| Updated: | 10/11/2018 |
| Start Date: | January 2002 |
| End Date: | December 31, 2021 |
| Contact: | Elicia A Estrella, MS, LCGC |
| Email: | elicia.estrella@childrens.harvard.edu |
| Phone: | 617-919-4552 |
Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
The purpose of this study is to identify genes and proteins responsible for nerve and muscle
disorders by studying genetic material from individuals with 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 but have no causative gene implicated in their disease. Using molecular genetics to
unravel the biochemical basis of these neuromuscular disorders should lead to more accurate
diagnosis of these disorders and should lead to potential therapies.
disorders by studying genetic material from individuals with 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 but have no causative gene implicated in their disease. Using molecular genetics to
unravel the biochemical basis of these neuromuscular disorders should lead to more accurate
diagnosis of these disorders and should lead to potential therapies.
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
many of 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 biopsies 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.
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
many of 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 biopsies 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.
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.
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 such a diagnosis and not being related to such an individual
2. not wishing to participate
3. being incapable of giving consent and not having a legal guardian willing or able to
do so
We found this trial at
1
site
300 Longwood Ave
Boston, Massachusetts 02115
Boston, Massachusetts 02115
(617) 355-6000
Principal Investigator: Louis M Kunkel, PhD
Phone: 617-919-4552
Boston Children's Hospital Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care....
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