Ignite Creation Date:
2024-05-05 @ 4:37 PM
Last Modification Date:
2024-10-26 @ 9:22 AM
Study NCT ID:
NCT00272883
Status:
RECRUITING
Last Update Posted:
2024-06-18
First Post:
2006-01-05
Brief Title:
Molecular and Genetic Studies of Congenital Myopathies
Sponsor:
Boston Childrens Hospital
Organization:
Boston Childrens Hospital
Study Overview
Official Title:
Molecular Analysis of Neuromuscular Disease
Status:
RECRUITING
Status Verified Date:
2024-06
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
In the Congenital Myopathy Research Program at Boston Childrens Hospital and Harvard Medical School the researchers are studying the congenital myopathies neuromuscular diseases present from birth including central core disease centronuclearmyotubular myopathy congenital fiber type disproportion multiminicore disease nemaline myopathy rigid spine muscular dystrophy SELENON SEPN1 RYR1 myopathy ADSS1 ADSSL Myopathy and undefined congenital myopathies The primary goal of the research is to better understand the genes and proteins gene products involved in muscle functioning and disease The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future For more information visit the Laboratory Website at wwwchildrenshospitalorgresearchbeggs
Detailed Description:
The Congenital Myopathy Research Program consists of a group of scientists and healthcare providers all working to better understand the congenital myopathies We are taking two approaches to reach our research goals The first involves identifying and describing new genes and proteins involved in the skeletal muscles that allow our bodies to move Simultaneously studies are underway to identify genetic changes mutations that cause human neuromuscular disease Thus our second approach is to identify mutations learn how they are inherited in families and understand how they lead to weakness in individuals with neuromuscular disease These approaches allow correlation of our basic muscle biology findings with our studies on muscle tissue of affected individuals
Our research would not be possible without the generous participation of individuals and families with congenital myopathies Participation in our studies is free of charge Travel to Boston is not required and we welcome the participation of individuals from around the world
We appreciate the participation of all individuals with a congenital myopathy as well as their first-degree relatives Participants with a congenital myopathy are asked to donate medical records a blood or saliva sample and a muscle tissue sample if available Participating relatives are asked to donate a blood sample The bloodsaliva sample is used to acquire DNA genetic material which can be used to identify genetic changes and to study how a disease is inherited in a family The medical records are employed to understand a participants symptoms The muscle tissue is used to better understand the disease at the muscular level by studying the gene expression and protein levels in individuals with congenital myopathies
For more information visit the Laboratory Website at wwwchildrenshospitalorgresearchbeggs
Our research would not be possible without the generous participation of individuals and families with congenital myopathies Participation in our studies is free of charge Travel to Boston is not required and we welcome the participation of individuals from around the world
We appreciate the participation of all individuals with a congenital myopathy as well as their first-degree relatives Participants with a congenital myopathy are asked to donate medical records a blood or saliva sample and a muscle tissue sample if available Participating relatives are asked to donate a blood sample The bloodsaliva sample is used to acquire DNA genetic material which can be used to identify genetic changes and to study how a disease is inherited in a family The medical records are employed to understand a participants symptoms The muscle tissue is used to better understand the disease at the muscular level by studying the gene expression and protein levels in individuals with congenital myopathies
For more information visit the Laboratory Website at wwwchildrenshospitalorgresearchbeggs
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| NS40828 | None | None | None |
| AR44345 | None | None | None |