A natural history study of patients with Canavan disease.

A natural history study of patients with Canavan disease.

A natural history study of patients with Canavan disease.

A natural history study of patients with Canavan disease.

What Is a Natural History Study?

  • A natural history study is used to understand the natural course of a disease, and can help doctors know what clinical improvements may look like in patients who receive a potential treatment.
  • A robust natural history study can be an alternative to a placebo arm in clinical trials.
  • Regulators, like the Food and Drug Administration (FDA), can use natural history data to understand more about disease progression as they evaluate potential therapies for approval.

Importance of a natural history study in patients with Canavan disease.

Why Should Families Consider Participating?

  • Patients can contribute to a greater knowledge of Canavan disease, since Aspa will share data from CANinform with the Canavan patient community, which may enable doctors to provide better care for those affected.
  • Patient data from a natural history study can help define meaningful changes that may show whether a treatment is working.
  • Greater family participation can provide valuable data that may help support an approval of a new therapy for Canavan Disease.

Hear from Canavan patient advocacy groups on enrolling in the CANinform natural history study.

CANinform is a natural history study of patients with Canavan disease that will help researchers better understand the disease and can provide a foundation for Aspa’s gene therapy program. The study is open to all families with a confirmed diagnosis of Canavan disease.

Medical records are a key component for gathering this data and are needed to participate in CANinform. Aspa is offering a record retrieval service to help families (outside of the EU) to obtain past medical records using three simple steps, detailed below.

TO ENROLL IN CANinform:

TO ENROLL IN CANinform:

1 Families can call 1-833-764-2267 or email CanavanMedRec@veristat.com to use a free service to collect medical records

2 Fill out a short online form to provide consent to share medical provider information and begin the process of obtaining the records.

3 Once records are retrieved, contribute to the Canavan community by enrolling in CANinform, the Canavan natural history study. Support other Canavan families by joining this important effort.

TO ENROLL IN CANinform:

Families can call 1-833-764-2267 or email CanavanMedRec@veristat.com to use a free service to collect medical records

Fill out a short online form to provide consent to share medical provider information and begin the process of obtaining the records.

Once records are retrieved, contribute to the Canavan community by enrolling in CANinform, the Canavan natural history study. Support other Canavan families by joining this important effort.

CANinform SITES

  • Principal Investigator: Florian Eichler, MD, Massachusetts General Hospital, Boston, MA
    Contact: Haley Andonian, 617-724-1379, Handonian@mgh.harvard.edu
  • Principal Investigator: Heather Lau, MD, NYU Langone Medical Center, New York, NY
    Contact: Danika Anganoo-Khan, 929-455-5629, Danika.Anganoo-Khan@nyulangone.org
  • To view EU clinical site details, and for additional information, please see www.clinicaltrials.gov

If you call any of our call centers to express interest in participating in Aspa’s clinical trials, we may request additional information from you. This information is necessary to confirm whether your child is eligible for screening, which is a step to determine potential enrollment in our clinical trials. The information you provide and any information obtained through the screening process would be used solely to determine your child’s eligibility to participate in Aspa’s programs.

FREQUENTLY ASKED QUESTIONS

About CANinform

What is a natural history study?

A natural history study is a non-interventional (observational) study where doctors follow patients to see how a disease progresses over time. This may also 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.

Why is Aspa supporting a natural history study?

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, doctors, and families.

Why should we enroll our loved one in CANinform?

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

Will my child receive any benefit from participating in CANinform?

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.

Will my child be prescribed medicines as part of CANinform?

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 my child is on medications prescribed by their doctor, will they have to stop taking those medications?

If your child is taking this therapy, they can still take the therapy and enroll in CANinform. In the same way that the doctors 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 doctors.

Are there any costs associated with participating in CANinform?

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.

Who should participate in CANinform?

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.

If my child participates in CANinform, will that exclude them from enrolling in CANaspire, the Aspa clinical trial for patients with Canavan disease?

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

If my child participates in CANinform, will my child be automatically able to enroll in an Aspa investigational treatment trial for patients with Canavan disease?

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 my child has passed away, could their data still be included in CANinform?

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.

What will happen when we enroll in a CANinform study visit?

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 doctor 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 doctors can learn what past doctors 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 your child is currently experiencing.

What if we are unable to travel to a CANinform study site or live outside the United States?

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 doctor will then call the parent and discuss the status of your 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.

What will happen during a CANinform study visit?

The study doctor 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.

What are the requirements to begin participating in CANinform?

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.

Do I have to go to every hospital to obtain my child’s medical records if we do not have them?

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.

Have other rare disease studies used a natural history study?

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.

How does CANinform relate to CANaspire, Aspa’s clinical trial for its investigational gene therapy?

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 trials.

What is gene therapy?

Gene therapy is an approach for treating genetic diseases. Gene therapies are designed to provide a healthy gene to perform the function of a mutated gene in the body.

Why was Aspa founded?

Aspa was founded based on the pioneering work of Dr. Guangping Gao in Canavan disease and AAV gene therapy. Dr. Gao and Dr. Dominic Gessler studied AAV9 gene therapy in a mouse model of Canavan disease while at the University of Massachusetts. Aspa licensed this approach and is further developing it for clinical trials in patients with Canavan disease.

Why study gene therapy for Canavan disease?

In Canavan disease, the gene known as the ASPA gene is not functioning correctly. ASPA provides the instructions for making aspartoacylase, an essential protein that breaks down N-acetyl-L-aspartic acid (NAA). If NAA is not broken down it accumulates in a child’s brain and may prevent the proper formation of myelin. Myelin insulates the neurons, and without it they are unable to send messages properly, causing difficulty with movement, language, and vision. Gene therapy for Canavan disease would attempt to provide a functional copy of the defective ASPA gene.

Is gene therapy safe?

Gene therapy is being extensively studied around the world, with over 3,000 patients having participated in AAV gene therapy clinical trials, and two FDA-approved AAV gene therapies for rare neurological conditions in children. It is important to consider safety of any investigational therapy, and families should thoroughly discuss potential risks and benefits of any clinical trial with the study doctors. The American Society of Gene and Cell Therapy has more information here.