A natural history study is a non-interventional (observational) study where physicians follow patients to see how a disease progresses over time. This may include review of past medical records. These studies are often conducted in rare disease indications where there is limited data available on how a disease progresses.

For Aspa to design a gene therapy clinical trial with clinically meaningful endpoints, the company needs to understand the fine points of the disease to be able to determine whether its gene therapy slows or halts the progression of disease. Rare diseases such as Canavan disease typically have very small patient populations, vary widely in their presentation, and have progressive symptoms. Collecting and analyzing data from Canavan patients can help clinicians understand the normal progression. As treatments are developed, this data can be used to define clear changes that are meaningful for regulators, physicians, and families.

The CANinform study will greatly expand our understanding of Canavan disease and this information should prove useful to patients, caregivers, and physicians, independent of any investigational therapy. Although Aspa is sponsoring CANinform, Aspa will make the data available through an established process whereby physicians, researchers and families can have access to the data.

Though your child will gain no medical benefit from participating in CANinform, you will have the opportunity to have access to leading Canavan disease experts at no cost to you, with regularly scheduled visits or check-ins to monitor your child’s health. By contributing to this important effort you also can increase scientific knowledge about Canavan disease that may help advance all future clinical programs for the condition.

No, there will be no medicines prescribed to patients in CANinform. The medications your child is currently taking will be recorded during the specified study visits but will not be changed because of participation in the study.

If your child is taking this therapy, s/he can still take the therapy and enroll in CANinform. In the same way that the physicians who evaluate patients in the study will not be prescribing new medications, they will not be stopping any medications that patients are on. Treatment decisions remain in the hands of your child’s treating physicians.

There will be no cost to families who participate in CANinform. Travel, lodging, and other related expenses will be paid for by Aspa. There will be no charge for the site visits which are part of the study.

Aspa hopes to include as many patients with Canavan disease as possible. That means if your child has Canavan disease, Aspa is interested in her or his participation in the study. It is still possible to participate, even if you are unable to travel. The clinical site will work with families on specific arrangements (visits by phone). For families who have lost a child to Canavan disease, Aspa has established a process whereby the family can still participate by having their loved one included in CANinform, as data in their medical record can be very informative and would help advance overall Canavan research.

Participating in CANinform will not impact a child’s ability to be enrolled in an Aspa-sponsored treatment trial for Canavan disease or any other future Canavan treatment study.

Participation in CANinform will not have any influence on whether or not your child may be eligible for a future Aspa gene therapy clinical trial.

If your child has passed away, the data can still be very helpful in contributing to the overall understanding of the disease. Aspa has established the ability for you to enroll in CANinform. The full medical record will be important, and you may be asked to speak with the Investigator over 1 or 2 phone calls. The medical record retrieval service Aspa is offering to help families obtain records can also assist you.

There are two aspects to this study: looking back on past records (retrospective) and in person assessments moving forward (prospective).

All patients would enroll and be assigned to a clinical site. Prior to enrollment, families will be asked to review and sign an appropriate consent form. The family will be asked to provide all available medical records to the clinical site in advance of the first visit. This allows the Study Investigator time to become familiar with the medical history. The clinical site will then call and schedule a visit. The actual visit schedule depends on the age of your child.

From the review of retrospective records, Aspa is offering a free medical record retrieval service to help families obtain past records. Aspa and the Study Investigators can learn what past physicians and other healthcare providers observed based on evaluation of your child.

Assessments fall into the following categories: neurological, motor function, blood work to evaluate the effects of the disease and a review of any other medical information related to what the child is currently experiencing.

Ideally, all prospective study visits should be in person but should a family find it too difficult to travel to the clinical site, the family will be asked to send in any local records of healthcare visits that occurred since the last contact with the clinical site. The Study Investigator will then call the parent and discuss the status of the child in place of an in-person visit.

For all patients in the U.S., in home assessments will be scheduled. A physical therapist trained on the required assessments will visit your home at a time that is convenient for you. The in-home visit will take about 2 to 3 hours and the frequency (how often the physical therapist visits) will depend on the age of your child.

For those families able to participate in person, Aspa will cover the cost of travel expenses to attend the study visits.

The Study Investigator will conduct assessments that will permit characterization of Canavan disease and its progression. These include standard clinical evaluations of physical growth and development and collection of blood and urine samples, along with assessing Canavan disease-specific laboratory measures. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) may also be recommended. Standardized assessments that measure the impact of the disease on the patient’s quality of life and the emotional and social aspects of individuals affected with Canavan disease may be administered as well. If certain assessments become too much for the family, the family can choose to decline those assessments.

A patient must have a confirmed diagnosis of Canavan disease. The family must also be willing to provide the necessary medical records, and families must enroll by contacting the Call Center by phone (1-833-764-2267) or email CanavanMedRec@veristat.com. The parent and/or legal guardian must also be able to read, understand, and sign the informed consent.

Not if you live in the United States or some other countries, outside of the EU. Aspa has hired a company that can obtain the medical records on your behalf. Families living in the US or outside of the EU can call 1-833-764-2267 or email CanavanMedRec@veristat.com and provide consent, and the vendor will handle all the details and provide you with all the necessary records necessary for participation in CANinform. This service is free of charge to families.

Regulators such as the FDA may allow companies developing therapies for rare pediatric diseases to use natural history studies in place of a placebo-controlled clinical trial in certain circumstances, and natural history data has been used in a number of successful clinical trials and in support of approved therapies, including a recently approved therapy for spinal muscular atrophy, a rare pediatric neurodegenerative disease.

CANinform is a retrospective and prospective natural history study that is an integral part of the overall clinical development plan for Aspa’s gene therapy program. CANinform will provide critical data to allow Aspa to define a clinically meaningful endpoint in its planned subsequent clinical trial, referred to as the treatment trial, for its investigational gene therapy. Participation in CANinform does not impact eligibility for participating in future clinical studies.