DISEASE CLASSIFICATION(S):
Myotubular Myopathy(MM)
Nemaline Myopathy(NM)
Non-MDA Diseases(NON-MDA)
NAME OF CLINICAL TRIAL/STUDY:
Congenital Myopathies: Molecular and Genetic Studies
TRIAL UPDATES:
May 2009
The investigators note that this study remains open.
PURPOSE AND RATIONALE:
The Beggs laboratory at Children’s Hospital in Boston is conducting an ongoing study of the congenital myopathies (muscle diseases present from birth), including centronuclear/myotubular myopathy, congenital fiber-type disproportion, multiminicore disease, nemaline myopathy, and undefined congenital myopathies. Alan H. Beggs, Ph.D., is the study’s principal investigator.
The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. These studies will lead to an improved understanding of the causes for these disorders and allow for improved diagnosis and treatment of individuals with all congenital myopathies.
STUDY DETAILS:
Participation consists of:
Informed Consent
Each patient and family member who meets inclusion criteria (see below), and who expresses an interest to participate, will discuss details of the study with study personnel, after which they will be asked to sign an informed consent form. If the participant is a minor, a parent/guardian will be the one who provides consent.
Medical information and family history
The investigators will ask permission to obtain relevant medical records, such as neurologist’s notes, a muscle biopsy report, records of hospitalizations, etc., from participants’ health care providers. Subjects may also be asked some questions about their family medical history. This can often be done through a brief telephone interview.
Blood sample
The investigators will ask for a blood sample from all available and consenting family members who meet inclusion criteria. This blood sample will be used to isolate the genetic material (DNA). The DNA will be screened for mutations (changes) in genes that may be involved in the disease in a family. A blood draw can be arranged through either a participant’s physician or a nearby medical facility. All costs for the blood draw are paid by the study’s laboratory.
Muscle tissue from an existing muscle biopsy
Studying muscle from a person who has a congenital myopathy can reveal a lot about the genes and proteins involved in a disease. The investigators can help find out if any frozen tissue is still available from an existing muscle biopsy and, with the patient’s permission, arrange to have it shipped to the study’s laboratory. Alternatively, if the participent is scheduled to undergo a surgical procedure in the near future, this may provide an opportunity to donate a muscle specimen. With some procedures, it is possible for the surgeon to remove a small piece of muscle without any additional risk or discomfort to the patient.
Cost and time commitment
Participation in this study is free of charge. The study will cover reasonable costs associated with collection of the medical records and samples, but no direct compensation to study participants will be provided. Travel to Boston is not required, and individuals from anywhere in the world may participate. The telephone interview, blood draw, and paperwork should take no more than two hours to complete.
OPENING DATES:
Aug 1 2003
TARGET NUMBER OF PARTICIPANTS:
2,000
RECRUITMENT STATUS:
Open
ELIGIBILITY REQUIREMENTS:
Inclusion Criteria
Participants must have a clinical and pathological diagnosis of a form of congenital (birth-onset) myopathy (muscle disease) by a clinical neurologist, including, but not limited to, the following conditions:
- centronuclear myopathy (CNM), including myotubular myopathy (MTM and XLMTM)
- congenital fiber type disproportion (CFTD)
- multiminicore disease, including minicore myopathy, multicore myopathy, multicore disease and rigid spine muscular dystrophy (RSMD)
- nemaline myopathy (NM)
- undefined congenital myopathies, sometimes termed “nonspecific myopathy”
Affected individuals and all their first-degree relatives are eligible to enroll.
