Helping patients with genetic disorders through gene therapy

Bringing life-changing gene therapeutics to patients with diseases that have a high unmet medical need fuels our research and development pipeline. We have ongoing research collaborations for various neuromuscular and central nervous system conditions with particular attention on rare diseases.

Diseases with innovative new gene therapies in our current clinical pipeline include: 

Pompe disease

Pompe disease is a rare genetic and often fatal metabolic disorder. Due to a deficiency in the acid alpha-glucosidase (GAA) enzyme, glycogen is not broken down causing damage to muscle and nerve cells throughout the body. Various organs and tissues are affected, particularly the muscles.


Limb-girdle muscular dystrophy type 2I (LGMD2I) is caused by mutations in the FKRP gene. It is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs.  

Congestive heart failure

Congestive heart failure (CHF) is a chronic, progressive condition where the heart cannot pump sufficient amounts of blood and oxygen to the body. Gene therapy to express an active form of protein I-1c may provide a new approach to treating heart failure.

Methylmalonic acidemia

Methylmalonic acidemia (MMA) is a rare disease in which the body cannot break down certain fats and proteins. This metabolic disorder, caused by genetic mutations, can lead to long-term complications including growth delay, intellectual disability, kidney disease and pancreatitis.

Lisa’s story

Lisa’s story

Lisa can’t get up from a chair on her own, but she is not letting limb-girdle 2I muscular dystrophy stop her from being a working mother and loving wife.

“…the first time I was told I had a rare form of muscular dystrophy, it was a profound moment. I wanted to know more, but they said they had no more information than the diagnosis."

Read Lisa’s story

More patient stories »

Embracing patients

AskFirst™ is our collaborative program for advocacy groups, patients, and their families who may benefit from the latest advances in gene therapy research and potential curative therapies. Guided by the voice of patients, we strive to advance therapeutics, technology, regulatory requirements, and public policy in this area.

We “Ask” how we can help patients and their families. If you have a genetic condition, are a family member of someone with a genetic condition, or are affiliated with a patient advocacy group, we welcome your voice to help AskBio erase genetic disease.

AskFirst™ is driven by our mission to improve patients’ quality of life and our desire to bring better genetic medicines to market at a lower cost.

  • Include the patient and family voice in the design of our clinical studies
  • Bring together scientists, technicians, and clinical specialists who engage patients during the therapeutic development process
  • Create study protocols to maximize patient outcomes to speed the delivery of novel treatments
  • Engage patient advocacy liaisons with direct access to research teams to get answers when needed
AskFirst™ program logo

Questions? Email us at

Ask Matthew

“The desire to improve the quality of life of patients who are fighting genetic diseases is all the inspiration we’ve ever needed to find the curative answers we know are close at hand.”

Matthew Alsante
Director of Patient Advocacy


Expanded access policy

Expanded access programs are generally limited to patients with a life-threatening condition who either failed to respond to other conventional treatments, are not eligible for a clinical trial, or are ineligible for other treatments. These expanded access programs are regulated by the U.S. FDA and run as a simple study. They require some evidence to support the drug or treatment’s use in patients.

Once we publish results from a controlled clinical trial that suggest the gene may provide benefit for patients with acceptable safety, AskBio will open an expanded access study for that gene therapy. At that time, we will provide detailed information about the structure of the program and how patients may apply through their physicians. The first clinical studies are still currently underway.

Corporate support

AskBio supports charitable activities by patient advocacy and education organizations. We can also provide educational materials, clinical study data, and SMEs. Visit our Corporate Support page to learn more.