Clinical Trials and Natural History Studies are vital for advancing research to help find a treatment and cure for LGMD
- ClinicalTrials.gov – This is a searchable registry and results database of federally and privately supported clinical trials conducted in the United States and around the world.
- Biotech and Pharmaceutical Companies
Following the 2022 Rare Drug Development Symposium, Global Genes released the Rare Disease Roadmap. This toolkit was designed to help advocates, individuals, families, and organizations better understand some of the potential routes to treatment and some of the key concepts that are part of these processes to work with researchers and industry partners throughout the drug development process.
MDA has created resources to help the patient community to understand the drug development process and the role of clinical trials
- Clinical Trials 101 (PDF)
- Clinical Trials FAQ (PDF)
Patients can empower themselves by investigating whether or not a treatment has been published and proven to be safe and effective. For the health & safety of the LGMD patient, it is extremely important to determine whether a treatment is legitimate!
- 5 Question “Checklist” (PDF Document)
An Externally-Led Patient Focused Drug Development (EL-PFDD) meeting for six Limb-Girdle subtypes was be held on September 23, 2022 and focused on LGMD 2A/R1, 2C/R5, 2D/R3, 2E/R4, 2F/R6, and 2I/R9.
The Voice of the Patient Report provides a detailed summary of the outcomes of the EL-PFDD meeting. This landmark report documents the disease burden and unmet medical need in patients’ own voices and serves as a reference for the FDA, clinicians, researchers, and other stakeholders. Select patient comments collected in a pre-meeting survey and through an online portal are available in a separate PDF document.
A recording of the EL-PFDD meeting is also available at https://LGMDPFDD.com
Diagnostic & Care
Do you think you have a form of Limb-Girdle Muscular Dystrophy (LGMD)? It is very important for you to get a genetically confirmed LGMD diagnosis. If your doctor tells you that you have an LGMD but doesn’t genetically confirm it, your diagnosis is incomplete. Knowing the exact form of LGMD or sub-type is important as there are health benefits for confirming an LGMD sub-type through genetic testing. Genetic testing can be performed with either a saliva or blood sample.
Have you received confirmation of your LGMD sub-type diagnosis? Please consider having your name entered into a diagnosis specific “LGMD Patient Registry”.
One of the challenges of living with a rare disease such as Limb Girdle Muscular Dystrophy (LGMD) is finding physicians and other health care specialists who have a good understanding of the disease process.
The National Organization of Rare Disorders (NORD) has designated 31 Rare Disease Centers of Excellence nationwide. Each center offers the high-quality specialized care needed to help diagnose and manage complex rare diseases. Collaboration between these institutions creates critical new connections and improves access to best-in-class clinical care and resources.
There are more than 30 known subypes (forms) of limb-girdle muscular dystrophy (LGMD). In 2017, the naming system (nomenclature) of LGMD was changed.
- Patient information leaflet on new names for LGMD (PDF Document)
The American Academy of Neurology (AAN) published recommendations for the care of people with limb-girdle muscular dystrophy and related disorders.
- Summary of Evidence-based Guideline for PATIENTS and their FAMILIES
- Summary of Evidence-based Guideline for CLINICIANS
- Download the AAN Muscular Disease Guidelines “app” through the iTunes Store or the Google Play Store
- Facts About LGMD – a publication from Muscular Dystrophy Association (MDA)
- LGMD Organizations/Foundations
- National Center for Biotechnology Information (NCBI)
- National Institute of Health (NIH)
- Muscular Dystrophy Association (MDA)
- Muscular Dystrophy Foundation Australia
- Muscular Dystrophy Canada
- Muscular Dystrophy New Zealand
- Muscular Dystrophy South Africa
- Muscular Dystrophy UK
- Treat-NMD: Neuromuscular Network
- Washington University in St. Louis
Pharmaceutical / Biotech Websites:
Living with a progressive neuromuscular disease such as Limb Girdle Muscular Dystrophy can be financially challenging at times. There are many disability related costs that public and private insurance do not typically cover. Below are some resources that may be able to provide assistance to help offset the financial burden.
This toolkit is intended to be a “how-to” guide designed specifically for people living with rare diseases and rare disease advocates. It answers questions about Medicare and other options for financial assistance that are especially relevant to people with disabilities.
The toolkit also features tips and advice from rare disease professionals and people who have first-hand experience.
Individuals with Muscular Dystrophy (MD), often face daily challenges in performing essential tasks, including activities in your personal life as well as job functions. If your MD prevents you from earning a living through gainful employment, then you can potentially qualify for disability benefits from the Social Security Administration (SSA).
- SSI Child Disability Starter Kit Factsheet and Checklist from the Social Security Administration
- SSI Adult Disability Starter Kit Factsheet and Checklist from the Social Security Administration
- Social Security Administration’s Benefits Eligibility Screening Tool (BEST) The BEST tool helps you find out if you could get benefits that Social Security administers. Based on your answers to questions, this tool will list benefits for which you might be eligible and tell you more information about how to qualify and apply.
- Social Security Administration Red Book A summary guide to employment supports for persons with disabilities under the Social Security Disability Insurance (SSDI) and Supplemental Security Income (SSI) programs
- Social Security definition of disability —Musculoskeletal disorders page Used as a basis to determine eligibility for state insurance benefits
- Social Security definition of disability —Childhood Listings Used as a basis to determine eligibility for state insurance benefits
- Social Security Ticket to Work Program supports career development for Social Security disability beneficiaries age 18 through 64 who want to work.
- Ultimate Guide to Social Security Disability Benefits Blog from MoneySavingPro.com as a guide to Social Security Disability benefits
- Understanding Supplemental Security Income Appeals Process Information from the Social Security Administration
This toolkit is designed to help you and your partner explore and prepare for genetic and rare disease tests and family planning options and their associated financial considerations.
Within the toolkit, you will also find insights and advice from people living with a rare disease, carriers of a rare medical condition, and experts who can help you choose different family planning paths.
Patient & Family
The Speak Foundation publishes a quarterly magazine for the LGMD community. They gather the best and most up-to-date information and research on LGMD. This is an incredible resource put together by individuals living with limb-girdle muscular dystrophy.
This free publication is mailed to residents in the U.S. and is also available digitally. To subscribe, please visit their website.
This high-level toolkit will help you make the most of the many opportunities for part-time, full-time, and remote work available to people living with a rare disease. This guide also includes tips and advice from rare disease patients and experts to help you make smart decisions and avoid common and costly mistakes.
Getting a proper wheelchair is so important for enhancing your function, maintaining comfort and improving your independence. It is a big decision…so you want to be well informed throughout the entire process.
- “Mobility Map” – an online step by step guide on how to get “The Right Wheelchair” for your specific needs!
This toolkit is designed as a guide for parents who live with a rare disease. In addition to recognizing the emotional impact of being both a caregiver and a patient, this toolkit provides guidance to parents on the practical elements of living with a rare disease, such as employment, insurance, applying for social benefits, and everyday health management.
PLEASE NOTE: LGMD Awareness Foundation, Inc. strives to make the information on this website as timely and accurate as possible, we make no claims, promises, or guarantees about the accuracy, completeness, or adequacy of the contents of this site, and expressly disclaims liability for errors and omissions in the contents of this site. Reference in this site does not constitute endorsement or recommendation by LGMD Awareness Foundation, Inc.