The Ensuring Access to Clinical Trials Act of 2015 (EACT) has been passed by the U.S. House of Representatives, and having already been passed the Senate in July, the bill will now go to President Obama to be signed into law.
The EACT bill authorizes individuals to receive up to $2,000 as compensation for participating in a clinical trial, without the amount counting as income for Medicare and SSI eligibility. Once this bill is signed into law, persons affected by rare diseases like Spinal Muscular Atrophy (SMA) will be able participate in clinical trials with their compensation for travel and related costs not affecting their eligibility for Medicare or social security benefits. This reform removes a critical barrier to participation in clinical trials and should ensure that trials will be able to move forward more quickly and efficiently.
Cure SMA is is one of nearly 75 organizations that advocated with the House for passage of this law, along with the Cystic Fibrosis Foundation, the National Organization for Rare Disorders (NORD), and the Parent Project Muscular Dystrophy (PPMD).
Cure SMA is an advocacy organization for Spinal Muscular Atrophy, a rare disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. SMA is the number one genetic cause of death for infants, and the disease affects approximately 1 in 10,000 babies.
SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In healthy persons, this gene produces a protein critical to the functioning of the nerves that control our muscles. Without it, those nerve cells cannot function properly and will eventually die, leading to debilitating and often fatal muscle weakness. Approximately 1 in every 50 Americans is a genetic carrier, and SMA can affect any race and either gender.
Four primary types of SMA are classified as I, II, III, and IV, based on age of onset and highest physical milestone achieved. SMA type I is the most severe and also the most common. Babies with type I usually face greater physical challenges than individuals with other types of SMA. The expected lifespan of a child with SMA type I can vary dramatically based on many factors. Individuals with SMA type II, III, or IV often have normal or near-normal lifespans. But their physical abilities differ, since no two cases are exactly alike, and the patient’s abilities may change over time. Although SMA is not generally regarded as a progressive disease, individuals with SMA typically lose some function as muscles continue to weaken.
Individuals with SMA have difficulty performing basic functions of life, like breathing and swallowing, but the disease does not affect a person’s ability to think, learn, and build relationships with others.
And while there is currently no approved treatment for SMA, Cure SMA affirms that there is substantial reason for hope for some progress soon. It is now known what causes SMA and the broad strokes of what is needed develop effective therapies, with scientists on the verge of major breakthroughs that will strengthen SMA-affected childrens’ bodies, extend life, and eventually lead to a cure.
The SMN1 Mutation
SMA is an autosomal recessive genetic disorder. This means that, generally, both parents must pass on the mutation for the child to have SMA. Most people have two copies of the SMN1 gene. Individuals who have one faulty copy and one functioning copy are called carriers. Carriers do not have SMA, but they may pass the faulty gene on to their children.
When two carriers have a child, there is a 25% chance that the child will be unaffected, a 50 % chance that the child will also be a carrier, and a 25% chance that the child will have SMA.
The SMN2 Gene
A second gene also has a role in producing SMN protein. This is the survival motor neuron gene 2 (SMN2), often called the “SMA back-up gene.” Most of the SMN protein produced by SMN2 lacks a key building block normally produced by SMN1. This means that SMN2 cannot fully compensate for the mutated SMN1 gene. However, the number of SMN2 genes can vary from person to person, and individuals with more SMN2 copies typically have a less severe form of SMA than those with fewer copies. One potential SMA treatment would be to indice SMN2 to produce more protein. Another would change how the protein is produced, so that SMN2-produced protein would contain all the key building blocks required. Cure SMA’s comprehensive research program explores these and other possible SMA treatments.
An SMA diagnosis may bring a lot of uncertainty, and Cure SMA notes that many factors make it difficult to predict exactly what the diagnosis will mean for the individual patient and their family.
Care and Treatment
All families affected by SMA must make many decisions about care and treatment. Cure SMA does not advocate any specific choices or decisions; but are there to counsel anyone who would like to talk through their options.
All decisions related to SMA are highly personal, and every family needs to do what’s best for them, and these decisions are best made with the assistance of an interdisciplinary team, which may include a neurologist, nurse or nurse practitioner, pulmonologist, orthopedist, genetic counselor, physical or occupational therapist, nutritionist, and social worker. The interdisciplinary team can help the person with SMA and their family develop specific goals that align with family values and priorities for the affected child. Many families may also seek guidance from a counselor or spiritual advisor.
Personal Values and Quality of Life
When facing an SMA diagnosis, Cure SMA encourages families to make decisions that will maximize their quality of life, acknowledging that that will have different definitions and meanings for each family. The organization’s goal is to give families the information and resources they need to live active, engaged, and hopeful lives, affirming that children with SMA should participate in as many age- and developmentally-appropriate activities as possible, with adaptations made when necessary. Children with SMA can also reach their utmost potential in school, at home, and in their communities.
Likewise, adults with SMA can attend college, excel in chosen career fields, enjoy travel and recreation, and build relationships just as anyone else can. Modifications may be necessary to accommodate their physical ability limitations. For example, a car or van can be fitted with special equipment allowing an adult with SMA to drive.
Because of Cure SMA’s connections to both patients and researchers, the organization is able to advance a comprehensive research program, attacking SMA from all sides. Basic research investigates the causes and biology of SMA, often revealing new and more effective ways of making drugs. Drug discovery converts basic research ideas into new drug candidates. Learn about our drug discovery process and the different therapeutic approaches we’re pursuing. Clinical trials test drug candidates for safety and effectiveness, and the EACT bill, if passed, will facilitate increased trial participation.
Clinical care research focuses on issues such as breathing or nutrition, with the goal of improving the quality of life for individuals currently living with SMA. The Cure SMA drug pipeline is one of the primary ways they evaluate the success of their research program. The pipeline identifies the major drug programs in development, and tracks their progress from basic research through clinical trials.
The Cure SMA drug pipeline identifies four possible treatment targets:
• Replacement or correction of the faulty SMN1 gene.
• Modulation of the low functioning SMN2 back-up gene.
• Neuroprotection of the motor neurons affected by loss of SMN protein.
• Muscle protection to prevent or restore the loss of muscle function in SMA.
The drug pipeline measures research progress of in two key ways. First, by tracking each individual program all the way to FDA approval. Second, by tracking how these programs are spread among the different therapeutic approaches.
Cure SMA’s research model funds drug programs at all stages of development. The basic research program studies the biology and causes of SMA, often revealing new and more effective ways of making drugs. These basic research ideas are then converted into practical drug candidates through drug discovery. Finally, those drug candidates move through the clinical trial process. The drug pipeline monitors each individual program as it moves through these stages.
In order to find a treatment and cure for SMA, Cure SMA acknowledges that it’s crucial to attack SMA from all sides, and as with all scientific research, it is difficult to predict which SMA drug programs might be successful. By investing in a diversity of approaches, Cure SMA maximizes their chances for success, and if one drug candidate or one approach fails, they have others lined up to take its place.