According to Batten Disease News, Invitae and Axovant Gene Therapies partnered up to offer free genetic testing in North America. This will focus on children who are thought to have lysosomal storage diseases. Additionally, the companies will offer resources such as counseling and support for families receiving diagnoses.
What Are Lysosomal Storage Diseases?
An article by Angela Sun in Annals of Translational Medicine describes lysosomal storage diseases as:
a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies…resulting in accumulation of undegraded substrate.
Basically, lysosomal storage diseases are genetic metabolical disorders that occur when someone does not have enough enzymes to clear toxic substances from the body.
Free Genetic Testing
This free genetic testing is offered by Axovant Gene Therapies and Invitae. In offering this testing throughout North America, the two groups are hoping to empower patients, advocate for medical accessibility, and provide information to patients and their families for early treatment. This is crucial. Past studies have shown that genetic testing can reduce the time families have to wait for diagnosis by up to 2 years. It also allows for more targeted treatment. Axovant Senior Vice President, Parag Meswani, Pharma, stated:
“Early intervention is ideal with potentially disease-modifying genetic therapies, and our partnership with Invitae should allow for us to identify and enroll children at earlier stages of disease progression.”
The Detect Lysosomal Storage Diseases program, which can be accessed by patients or physicians, tests for 53 lysosomal storage diseases. Patients in the program must either have a diagnosis or be suspected of having one of these diseases. This includes patients who show symptoms, have a family history of these diseases, or have positive results immediately following birth.
The program offers multiple comprehensive panels, such as LSDs, MPS, cardiomyopathy, and neuromuscular disorders. Doctors can run multiple panels in different areas if the first test comes back negative. Results from the tests come back in about 2 weeks.
Families who receive positive diagnoses for lysosomal storage diseases can receive free counseling from GeneMatters. Additionally, if someone receives a positive diagnosis, Invitae offers full testing for the entire family. Finally, Invitae also offers resources such as clinical support, a Family History tool, educational materials, and connections to patient advocacy organizations.
Types of Lysosomal Storage Diseases
A – M
- Batten disease – Batten disease is a fatal inherited nervous system disorder that develops in childhood. It occurs when lipopigments made of fat and protein build up in the body. These cause the death and degeneration of brain, retina, and nervous system neurons.
- Also known as: neuronal ceroid lipfuscinosis (NCL)
- There are four types of Batten disease: infantile (prior to age 2), late infantile (develops between ages 2 and 4), juvenile (between ages 5 and 8), and adult (before age 40). Symptoms include seizures, blindness, dementia, changes in behavior, and loss of motor skills. Learn more about Batten disease here.
- Fabry disease – Fabry disease occurs when fatty globotriaosylceramide builds up in cells and cannot be processed. Symptoms include gastrointestinal issues, tinnitus, cloudy vision, recurring pain in the extremities, and dark red skin spots. If untreated, patients may experience organ damage, stroke, or heart attack. Learn more about Fabry disease here.
- Gaucher disease – In patients with Gaucher disease, they have little to none of the enzyme beta-glucocerebrosidase. This enzyme helps turn the lipid glucocerebroside into glucose and other molecules. Without it, glucocerebroside levels build up and cause tissue and organ damage. About 1 in 60,000 people have Gaucher disease, with it being most common among Ashkenazi Jews.
- In Gaucher disease Type I, symptoms include enlarged organs, anemia, easy bruising, arthritis, lung disease, and bone fragmentation. Types II and III impact the central nervous system. They share similar symptoms to Type I, but also include brain damage, seizures, and abnormal eye movements. Type II is often fatal in infancy. Gaucher disease also has a perinatal form, which means it can affect fetuses in the womb. This can cause birth complications, calcified heart valves, skin abnormalities, inflammation, and neurological problems. Learn more about Gaucher disease here.
N – Z
- Niemann-Pick disease – Niemann-Pick disease consists of rare, severe metabolic disorders in which sphingomyelin builds up in cells. A mutated SMPD1 gene causes Niemann-Pick types A and B, while mutated NPC1 or NPC2 genes cause Niemann-Pick type C.
- Symptoms include reduced appetite, abdominal swelling and pain, low blood platelet counts, slurred speech, changes in mental ability, and impaired eye movements. Learn more about Niemann-Pick disease here.
- Sanfilippo syndrome – Patients with Sanfilippo syndrome lack enzymes needed to break down mucopolysaccharides, or sugar molecules. As a result, these build up within the central nervous system.
- Also known as: mucopolysaccharidosis type III (MPS III)
- There are 4 types of Sanfilippo syndrome. First is type A, the most severe form where patients lack the heparan N-sulfatase enzyme. Next, type B occurs when there is little to no alpha-N-acetylglucosaminidase. The third type, Sanfilippo C, is missingacetyl-CoAlpha-glucosaminide acetyltransferase. Finally, patients with Sanfilippo D do not have enough N-acetylglucosamine 6-sulfatase.
- Symptoms generally occur within one year of birth and become more severe between 2 and 6. These include developmental delays, walking problems, joint and muscle stiffness, behavioral issues, and diarrhea. Learn more about Sanfilippo syndrome here.
- Pompe disease – Pompe disease is caused by a mutated GAA gene. There are 3 types of Pompe disease:
- Classic infantile-onset: Symptoms of muscle weakness, heart and breathing problems, and enlarged liver occur within months of birth. If untreated, this is fatal within 2 years.
- Non-classic infantile-onset: Symptoms of progressive muscle weakness and slow motor development occur by age 1. Heart failure is not as common. Children may only survive through early childhood.
- Late-onset: Symptoms can appear from childhood through adulthood. This subset does not usually cause heart issues. However, patients can experience muscle weakness and respiratory failure. Learn more about Pompe disease here.
