Hope for children with Muscle Eye Brain Disease

 
 
Lindberg-5.jpg
 

We are parents, providers + industry.

We are a consortium of families, providers, advocates and industry working together to improve lives find a cure for Muscle Eye Brain Disease (MEB).

MEB impacts not only the child affected, but also the entire family. 

Children with MEB are not independently mobile, do not speak (or have a few words), have cognitive and nervous system impairment, often have feeding challenges, and are at risk for seizures (many have them), and suffer from explained and unexplained pain. Their future is unknown. Because there is no natural history study, we cannot tell families definitive details about disease progression so they can plan and seek appropriate care. Our aims will hopefully bring help and healing to this terrible disease, and as a by-product, improve the lives of siblings parents and caregivers. Chronic pediatric disease is always a family affair. 

Curing a child cures a family.

Meet us and watch our video below:

 
 

What is Muscle Eye Brain Disease + why is targeted treatment important?

"When differentiating the muscle diseases, the muscle-eye-brain diseases are caused by a variety of genes and POMGNT1, one of these genes, is a cause of multiple clinical presentations.  However, in the era and hopes of developing etiologic therapies, focus on the a specific genotype and phenotype is needed.  In this vein, patients with the classic muscle-eye-brain disease from POMGNT1 are born with structural brain abnormalities most commonly ventriculomegaly, white matter abnormalities, cerebellar and cerebral atrophy and possible cysts as well as brain stem atrophy.  Additionally, the infants often have low and high tone as well as cognitive delay.  There are noted muscle involvement but also prominent ocular features including cataracts and/or retinal abnormalities. Given these features, there are often respiratory and feeding struggles for the children including problems with their ability to achieve normal developmental milestones.  The mixed central and peripheral neurologic features as well as structural brain abnormalities, we suspect this is an underdiagnosed disease with no natural history (as most reports are time constant case reports or series) and no current etiologic treatment.  As such, these patients typically have a progressive decline in functioning with a significant morbidity and mortality." Dr. Matthew Harmelink | Children’s Hospital of Wisconsin

Goals

Reaching these goals are already work in progress. We’ve received IRB approval at Children’s Hospital of Wisconsin to begin the natural history study. We are currently enrolling families. We have a research plan with SUNY Upstate that will commence as soon as we raise our funds. Milo Biotechnology is engaged to help guid us through the process of taking this work from the bench to the clinic. Click here to learn more about our partners.

 

01.

Create a Natural History Study

02.

Create safe + efficacious gene therapy for POMGNT1

03.

Take our learnings and apply them to other muscular dystrophies with cognitive involvement

 
 
 
 

"A multidisciplinary approach with basic science, clinical medicine, patient advocacy and industry involvement is very important to move forward with any possible treatment.  In rare diseases, having a unified approach without sacrificing the ability to obtain the best answers possible with limited amounts of data available."”

Dr. Matthew Harmelink |Neurologist | Children’s Hospital of Wisconsin

 
 
YBakbOdfTQCWw7WcJvK%vA.jpg
 

Partners

Change comes when we all work together, each bringing our expertise and passions. The following providers, researchers and industry experts are joining in to make this project a success:

If your family is impacted by MEB - join us on Facebook here.

 
 

Ready to help?

Get involved

Donate

 
Lindberg-63.jpg