Information about the LGMD2i Natural History Study

What is ML Bio Solutions?

ML Bio Solutions (ML Bio) is a biotechnology company founded by the McColl and Lockwood families after Jane Lockwood, McColl’s granddaughter and Lockwood’s daughter, was diagnosed with LGMD2i. She was five years old. Today, nearly 18 years later, ML Bio is developing BBP-418, potentially the first oral treatment for patients with LGMD2i.

What is BBP-418?

ML Bio’s BBP-418 is an investigational oral therapy for patients with LGMD2i. It is synthesized from a molecule that is similar to a naturally occurring substance already in your body. It is designed to supply muscle cells with the missing sugar that is needed to be healthy and functional.

What is the commercially available supplement, D-ribose and is it safe to take it?

Ribose (D-ribose) is a type of simple sugar, or carbohydrate, that our bodies make. It is often marketed as a supplement for athletes to improve performance. There is no scientific evidence to date that demonstrates that D-ribose has any benefit for individuals with LGMD2i (or for athletes).

The FDA’s mission is to protect public safety by prohibiting public access to products which have not demonstrated their safety and efficacy in rigorous animal and human studies. No D-ribose formulations of any kind, including commercially available D-ribose, have been approved by the FDA for human use. ML’s Bio’s lead product, BBP-418 has not yet been evaluated for safety under FDA regulations and is not yet available for human use.

ML Bio Solutions’ position is that patients and caregivers should speak with their physicians before making any treatment decisions, especially those concerning experimental, complementary or unregulated products.

What is the current stage of development of BBP-418? What is the timeline for a LGMD2i clinical trial for BBP-418?

ML Bio Solutions has begun a natural history study for LGMD2i, enrolling patients at sites across the United States. The primary goal of the natural history study is to document how LGMD2i affects different people who are living with it and to identify measures which may eventually be used as endpoints (outcome measures that indicate change over the course of the study) in a clinical trial. This study does not involve treatment. Instead, the natural history study is an opportunity for researchers to understand the natural course of the disease and evaluate the most meaningful and sensitive outcome measures.

Many steps are required before the safe initiation of a treatment trial in LGMD2i patients is authorized. Typically, these steps include:

1) A safety study, called Phase I, to understand how single and multiple doses of ML Bio’s BBP-418 behave in the body, identify any safety concerns, and help inform us about the appropriate dose or doses that should be evaluated for treatment effect.

2) A subsequent study, called Phase II/III that is designed to evaluate the therapeutic doses established by the preceding safety study for impact on biomarkers and to evaluate functional tests that can better predict clinically meaningful impact for you.

Once the natural history study is complete, we will begin the clinical trial of ML Bio’s BBP-418.  When the FDA gives ML Bio permission to begin a clinical trial of BBP-418 in people with LGMD2i, you should speak to your physician about whether ML Bio’s clinical trial is right for you.

Tell me more about the natural history study.  How would it help advance drug development in LGMD2i?

The natural history study is designed to better understand the impact of the disease on patients with LGMD2i.

Because LGMD2i is a rare disease, there is limited information about the impact of LGMD2i over time. The natural history study will help us identify the symptoms and aspects of the condition that affect the individuals’ physical health and quality of life. This will lead us to design a clinical trial that can measure the impact of a treatment on those symptoms.

Who is eligible to participate in the natural history study?

Some individuals with a confirmed genetic diagnosis of LGMD2i are eligible to participate. Genetic testing is not only required to enroll in the study but also important because a definitive diagnosis is the first step to effectively managing an individual’s disease. It can ensure the most appropriate treatment strategy, best outcomes and access to clinical trials or disease-specific patient registries.

MDA offers a free limb-girdle muscular dystrophy (LGMD) genetic testing program (https://www.mda.org/disease/limb-girdle-muscular-dystrophy/diagnosis/lgmd-genetic-testing-program). (If you are interested in free genetic testing, you must be registered with MDA. To register, contact the MDA National Resource Center at 800-572-1717 or resourcecenter@mdausa.org.) Other resources for free  or low-cost genetic testing include the Lantern Project (https://www.perkinelmergenomics.com/limb-girdle-muscular-weakness-lantern/index.html) and In Vitae comprehensive NM panel (https://www.invitae.com/en/individuals/diagnostic-genetic-testing/rare-diseases/). If you have not had genetic testing already, discuss next steps with your doctor.

Patients will be enrolled through designated clinical centers in the US and Europe that care for people with LGMD2i. If your doctor is not located at one of these centers, he/she would refer you to a participating center, where they can determine if you are eligible to participate.

For more information on the natural history study, or if you would like to enroll, you may contact the Project Manager: Brittney Holmberg, brittney.holmberg@vcuhealth.org, 804-552-0014.

Where can I find more information about LGMD2i or communicate with others who are living with LGMD2i?

The following organizations are good resources for those living with LGMD2i: