Request for Patient Involvement
If you would like to request patient participation in an ongoing study, please reach out to info@fshdsociety.org. Please try to provide as much detail as possible and we will do our best to reply within a timely manner.
Patient Registries
FSHD Society Research Registry
The FSHD Society's FSHD Patient Registry is here to assist researchers, clinicians, and allied healthcare professionals looking for volunteers willing to participate in their studies. Contact the FSHD Society for further information.
U.S. NIH FSHD Registry at the University of Rochester
The U.S. National Institutes of Health (NIH) has established a National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) patients and family members. Housed at the University of Rochester, the NIH registry assists researchers looking for volunteers to participate in their studies by searching the registry database for qualified members. The registry staff sends those members a letter announcing the project. Applications are accepted from members and researchers across the United States.
To enroll, people are required to complete a comprehensive questionnaire. If you would like to participate or have questions regarding the NIH National Registry, please contact:
The NIH National Registry of Myotonic Dystrophy and FSHD
601 Elmwood Avenue
Box 673
Rochester, NY 14642-8673 USA
Call toll-free: (888) 925-4302 (9 a.m. to 4 p.m. weekdays, EST)
Local (Rochester, NY): (585) 276-0004
Fax: (585) 273-1255
Email: dystrophy_registry@urmc.rochester.edu
Web: http://www.dystrophyregistry.org
Biospecimens
Coriell Cell Repositories
For a listing of cell lines and products available for FSHD research, please click here. The scientific staff at Coriell has been greatly helped by the FSH Society in acquiring this important resource for the NIGMS Collection. Investigators looking to purchase cell lines should have a current MTA on file with the NIGMS Repository at The Coriell Institute. Complete information on how to order samples can be found at this link.
The FSHD Society and the Coriell Cell Repositories in Camden, New Jersey, have been working together to bring cell lines from FSHD families into the National Institute for General Medical Sciences Human Genetic Cell Repository. The FSHD Society recruits FSHD patients and family members to donate tissue and cells. The intention is to establish a resource of FSHD materials open to researchers worldwide for a reasonable cost. Researchers can be assured of the quality of the cell lines and DNA from the NIGMS Collection, which Coriell initiated at the invitation of the NIH. All cells are free of microbial contamination, including mycoplasma, and have been assigned a microsatellite identity profile. All members of any submitted family are verified by Coriell for relationship before they are included in the collection. Coriell therefore supplies validated, uncontaminated cell cultures to established researchers who can be certain that the cells they receive are the cells they ordered. The extensive quality control that Coriell uses to assess isolated DNA includes pulse field gel electrophoresis and long-range PCR. Finally, a clinical profile of each affected family member from the FSHD collection will be provided in the electronic catalog.
UMass Wellstone Center for FSHD
University of Massachusetts Medical School UMMS Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center for FSHD. The UMass Wellstone Center distributes FSHD and control primary skeletal muscle cell strains and immortalized clonal cell lines, established on July 12, 2011. Download this PDF for more details »
To request cells, please email requests to Charles P. Emerson, Jr., and cc Jennifer Chen. A copy of the material transfer agreement (MTA) and a summary table of available cells will be sent in the reply email. Requests will be handled on a first-come, first‐served basis upon return of completed MTA. Depending on the level of interest, we may not be able to accommodate all requests immediately with the current reserve; the stocks are renewable to a limited extent, but this effort will require time. A fee per cohort will be charged to offset handling costs; shipping will be billed either through the recipient’s FedEx account number or as a separate charge.
Brain and Tissue Bank for Developmental Disorders
The Brain and Tissue Bank for Developmental Disorders is a tissue resource center at the University of Maryland in Baltimore. For a list of available FSHD tissue specimens, download the Maryland Tissue Bank Inventory (dated May 8, 2016).
A tissue resource center established by the National Institute of Child Health and Human Development (NIH NICHD). The bank serves as an intermediary between the research community and people who wish to donate tissue for research upon the time of their death. The bank safely stores the tissue until qualified researchers request the tissue for research. Both people with developmental disorders and people free of disorders are encouraged to register and donate tissue. Often, it is the comparison of the unaffected with the affected that unlocks the medical mystery of a disorder. The availability of tissue from donors with FSHD is especially limited. As more tissue becomes available and more researchers dedicate their life’s work to this disorder, new discoveries can lead to treatments and, eventually, a cure. It is only through the study of donated tissue that important answers will be found. Contact: Anthony Weldon, Project Coordinator, Brain and Tissue Bank for Developmental Disorders, University of Maryland, 655 W. Baltimore Street, 13-013 BRB, Baltimore, MD 21201-1559 USA, Toll free: (800) 847-1539, Local: (410) 706-1755, Fax: (410) 706-0020, Email: btbumab@umaryland.edu or aweldon@umaryland.edu
Tissue Donation Sample Protocol and Consent Form
Please get the word out and encourage individuals involved with FSHD (affected and unaffected) to sign up to be tissue donors. Also, please be aware that valuable tissues such as muscle can be obtained from certain types of surgery such as scapular fixation.
A sample protocol and a sample Consent to Participate in Research form for clinicians and surgeons can be downloaded here. These forms are only examples. Before using any form, the form must be reviewed, approved, and/or modified by the investigator, the institution, and any applicable review boards. These forms are provided for general informational and educational purposes only. The FSHD Society and this website do not provide medical or legal advice or recommendations. Neither the FSHD Society nor any contributor to this website can be liable or responsible for anything related to the use of these forms.
Books, Articles and Journals
Facioscapulohumeral muscular dystrophy. Wikipedia article maintained by the FSH Society Journal Club members.
Facioscapulohumeral Disease. Padberg, G.W.A.M., 1982, Doctoral Thesis, Leiden University. Landmark, classic work. (Free Access.)
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Rabi Tawil, Silvère M van der Maarel and Stephen J Tapscott. In Skeletal Muscle. (Free Access.)
Long noncoding RNAs, emerging players in muscle differentiation and disease. Maria Victoria Neguembor, Mathivanan Jothi and Davide Gabellini in Skeletal Muscle. (Free Access.)
Facioscapulohumeral Muscular Dystrophy (FSHD): Clinical Medicine and Molecular Cell Biology. Edited by Meena Upadhhyaya and David Cooper. Taylor and Francis e-Library 2005. View eBook. Purchase from Amazon.
Neuromuscular Disease: From Basic Mechanisms to Clinical Management (Frontiers of Neurology and Neuroscience). Editor: F Deymeer F. Clin Neurosci. Basel, Karger, 2000. vol 18. pp 44-60. On Amazon.
Online Resources
Bloomington Drosophila Stock center distributes drosophila lines for studying DUX4 and FRG1 overexpression under “Genes of interest for muscular dystrophy.”
Exome Aggregation Consortium (ExAC). Curated by Broad Institute. The data set provided on this website spans 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. ExAD is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects, and to make summary data available for the wider scientific community.
Gene Expression Omnibus (GEO). Search for specific profiles of interest based on gene annotation or pre-computed profile characteristics. Enter search term “FSHD” to locate profiles of interest.
Gene Expression Omnibus (GEO) DataSets Repository. Enter search term “FSHD” to locate experiments of interest.
Leiden Open Variation Database (LOVD) mutation database. Curated by Richard Lemmers. All researchers are encouraged to submit data on FSHD genotypes to LOVD, to facilitate access by the entire research community to information on FSHD mutations.
Microarray Datasets. A directory compiled by Christopher Banerjee.
PEPR Portal at Children’s National Medical Center, Washington DC. The Public Expression Profiling Resource (PEPR) is a Research Center for Genetic Medicine, Children’s National Medical Center,
Washington DC experiment in web-database access to large multi-dimensional data sets using a standardized experimental platform. The primary goal of PEPR is to determine if the larger scientific community can be given simple, intuitive, and user-friendly web-based access to large microarray data sets. Note that all data in PEPR is also available via NCBI GEO
- PEPR Portal Search. Enter Project and enter search keyword “FSHD” to access. Please click here.
PubMed. A free database accessing primarily the MEDLINE database of references and abstracts on life sciences and biomedical topics. It is maintained by the United States National Library of Medicine at the National Institutes of Health. To run a PubMed query and search for FSHD and related terms, click here.
UCSC Genome Bioinformatics. This site contains the reference sequence and working draft assemblies for a large collection of genomes. It also provides a portal to the ENCODE project.
Washington University St. Louis Neuromuscular Page: Facioscapulhumeral Muscular Dystrophy. An extensive compendium of scientific information about FSHD. Frequently updated.
NIH ONLINE RESOURCES
Small molecule biologics gene therapy repurposing resources ; lead development, IND enabling studies
- NCATS Therapeutics for Rare and Neglected Diseases (TRND)
- NCATS Bridging Interventional Development Gaps (BrIDGs)
Small molecule hit generation, hit to lead and Ind enabling
Biologic hit to lead and IND enabling
Program to encourage drug repurposing and drug rescue
Apply for high throughput screening and follow up chemistry
Clinical and observational studies
There is no neuromuscular group but there is a ALS and related diseases group
Therapeutic trial network that distinct IND ready projects can apply to for resources
Other resource access translational programs at the NIH