Developing a Novel Gene Therapy for Canavan Disease.

Developing a Novel Gene Therapy for Canavan Disease.

Patients Are At The Heart of Aspa’s Clinical Program

Aspa Therapeutics is developing a gene therapy to treat eligible patients with Canavan disease. Aspa is in close contact with the Canavan Foundation, Canavan Research Illinois, and National Tay-Sachs & Allied Diseases Association as it moves forward with its clinical program. The company has created this website to provide information about the program to families affected by Canavan disease. The first step in Aspa’s clinical program is a natural history study, which can provide important data that may accelerate the timeline for approving a new therapy.

What Is a Natural History Study?

  • A natural history study is used in rare diseases to understand the natural course of a disease.
  • A robust natural history study is an alternative to a placebo arm in clinical trials.
  • Regulators, like the FDA, use natural history data to learn 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 Participate?

  • Patients and families can contribute to a greater knowledge of Canavan disease that may enable clinicians to provide better care for those affected.
  • Patient data from a natural history study can help define meaningful changes that can determine if a treatment is effective.
  • Greater family participation can provide robust data that may help get a therapy approved faster, for a broader set of patients.

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. Although CANinform involves no treatments, by enrolling in the study and sharing information, Canavan families will help speed up clinical development of the gene therapy, which will benefit the Canavan community.

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.



1 Families can call 1-833-764-2267 or email 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


Families can call 1-833-764-2267 or email 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


  • Principal Investigator: Florian Eichler, MD, Massachusetts General Hospital, Boston, MA
    Contact: Haley Andonian, 617-724-1379,
  • Principal Investigator: Heather Lau, MD, NYU Langone Medical Center, New York, NY
    Contact: Danika Anganoo-Khan, 929-455-5629,
  • A clinical site located in the European Union will be open in the near future – please check back for updates.
  • For additional information, please see

For specific questions related to Aspa’s clinical program, please email:

Gene Therapy for Canavan

Aspa is developing a gene therapy to treat Canavan disease, and has both short and long term goals for its clinical program. The CANinform natural history study is a crucial first step in working towards a treatment trial. The gene therapy treatment trial will build on this natural history data, and will use a therapeutic approach different from previous gene therapy trials in Canavan disease.

Aspa’s gene therapy uses an AAV9 vector (adeno-associated virus serotype 9), which is designed to deliver functional copies of the ASPA gene throughout the body and into the brain. The goal of this gene therapy is to address the underlying cause of Canavan disease and help improve signs and symptoms of the disease. AAV9 gene therapy has been extensively studied in other rare diseases, including the recent approval of the first AAV9 gene therapy for a pediatric neurodegenerative disease.



About Aspa

BridgeBio founded Aspa with the sole purpose of creating a gene therapy to treat patients with Canavan disease, and its leadership team is experienced in developing therapies for rare diseases. Aspa is firmly committed to working with Canavan patient advocacy groups and families affected by Canavan disease develop a safe, effective treatment for Canavan patients.

About Aspa

BridgeBio founded Aspa with the sole purpose of creating a gene therapy to treat patients with Canavan disease, and its leadership team is experienced in developing therapies for rare diseases. Aspa is firmly committed to working with Canavan patient advocacy groups and families affected by Canavan disease develop a safe, effective treatment for Canavan patients.

Family Resources

Information and support for families with Canavan disease is available from advocacy organizations such as:


Families can also access resources on gene therapy, drug development and understanding clinical trials by visiting:


Presentations and Posters

Aspa is committed to education and awareness. View recent presentations and posters below:


CANinform Family Brochure
(clinical study information for families)
January 4, 2020

EveryLife Foundation Annual Scientific Workshop
September 5, 2019
Washington, D.C.


48th Annual Meeting of the Child Neurology Society
October 23-26, 2019
Charlotte, NC

European Society for Gene and Cell Therapy
October 22-25, 2019
Barcelona, Spain

Congress for Pediatrics and Adolescent Medicine, focused on pediatric neurology
September 11-14, 2019
Munich, Germany

For additional presentations, posters, and publications, please visit


About CANinform

What is a natural history study?

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.

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, physicians, 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 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.

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 that my child’s treating physicians have prescribed, will s/he have to stop taking these medications?

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.

What, if any, cost will there be to participate 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 an 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 treatment trial for Canavan disease or any other future Canavan treatment study.

If my child participates in CANinform, is my child automatically able to enroll in an Aspa 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 his / her 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 the 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 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.

What if we are unable to travel to a clinical site or live outside the U.S.?

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.

What will happen during a study visit?

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.

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 (1-833-764-2267or email 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 and obtain my child’s medical records if I 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 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 Aspa’s treatment 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 studies.

Gene Therapy for Canavan Disease

What is gene therapy?

Gene therapy is a potential method of treating genetic diseases. Gene therapies are designed to allow physicians to insert a healthy gene to take the place of a non-functioning or mutated gene in the body, instead of giving medicine or other forms of treatment. If the healthy gene successfully replaces a non-functioning or mutated gene in the body and begins to function in the recipient, he or she may see an improvement in their signs and symptoms.

Why was Aspa founded?

Aspa was founded based on the pioneering work of Dr. Guangping Gao in AAV gene therapy. Dr. Gao and Dr. Dominic Gessler developed the gene therapy model in Canavan disease while at the University of Massachusetts. Aspa licensed this model and is further developing it to use as an investigational therapy in future treatment trials in patients with Canavan disease.

How is it hoped that gene therapy will work in Canavan disease?

In Canavan disease, the gene known as the ASPA gene is not functioning correctly. Researchers believe that due to the error in the gene leading to a defective protein being produced, a number of different processes in the brain are impacted and don’t function correctly. One such process involves myelin, the fatty insulation around the neurons in the central nervous system. When the myelin is destroyed, or does not develop, the central nervous system does not function correctly, causing difficulty with movement, language, and vision. Gene therapy for Canavan disease will be an attempt to provide a functional copy of the defective gene. If this is successful, there should be correction of a number of dysfunctional processes or prevention of further loss of function. For any investigational gene therapy for Canavan disease to be approved by regulators such as the FDA, it must be shown in preclinical studies and clinical trials to be safe and effective.

Is gene therapy safe?

It is important to consider safety of any treatment or therapy. The AAV9 vector that Aspa is using in its program has been studied in a number of animal models, including mice and primates, and has an established safety record. Currently there are 16 active clinical trials for gene therapies using viral vectors such as AAV9 in the U.S., as well as an AAV9 gene therapy that is FDA-approved for spinal muscular atrophy. The American Society of Gene and Cell Therapy has more information here.

Can you tell me more about the AAV9 vector used in Aspa’s program?

The AAV vector we intend to use for our investigational gene therapy has been studied in a number of other rare diseases, including the recent approval of the first AAV gene therapy for spinal muscular atrophy, a pediatric neurodegenerative disease. It is important to note, however, that similarity in the AAV vector is only one factor among many that can impact the safety and effectiveness of a gene therapy. Earlier success in other diseases does not mean that an investigational gene therapy for Canavan disease will be safe or effective.

Dr. Gao is a pioneer in designing AAV vectors for gene therapy, and the AAV9 viral vector he developed that we intend to use as our gene therapy candidate contains a promoter that has been observed to express the ASPA gene at a high level in affected target areas in animal models. These results have been presented at scientific meetings and published in a number of peer-reviewed journals. The clinical significance of utilizing the AAV vector in our investigational gene therapy development remains unknown.

When will Aspa’s gene therapy trial begin? When will it end?

Before starting the clinical trial, Aspa needs to learn more about the natural history of Canavan disease through the CANinform natural history study. At the same time, the company must test the gene therapy in animals to ensure that gene therapy will be safe enough to study in humans, and Aspa needs to receive FDA agreement to open a gene therapy clinical trial. Aspa is working toward opening a clinical trial for its gene therapy in 2020. After patients have been enrolled in the treatment trial, it will take some time to evaluate the effects and safety of the gene therapy and, if the initial and later trials are successful, additional work to obtain the necessary approvals from FDA and other regulatory agencies. In the meantime, Aspa does not plan to have a compassionate use or expanded access program.

How will families know when Aspa’s gene therapy clinical trial has started?

If regulators such as FDA permit us to begin treatment trials for our gene therapy, Aspa will inform the Canavan patient organizations when the trial sites are ready to begin recruiting patients in order to help them to communicate to their members that the trial is open. Aspa will also send an announcement to families who elected to receive updates from the company by signing up on this website ( The opening of the gene therapy treatment trial will also appear on the website.

What aged children will be accepted into the clinical trial? How many children will be enrolled in the study?

Once conversations with the regulatory authorities have occurred, Aspa will know more about the ages of children who will be eligible to participate in the trial, and the number of children who will be enrolled. Once the company knows, we will update the website and inform the patient organizations and the Canavan community.

How many patients will you enroll in Aspa’s gene therapy clinical trial?

At this time, Aspa does not know how many patients will need to be enrolled in the gene therapy clinical trial. Aspa will need to arrive at an agreement with the regulatory authorities about the number and age of patients to enroll in the trial.

Will there be costs for the gene therapy treatment in the clinical trial?

There will be no cost to the families for participation in the gene therapy treatment clinical trial. Aspa will cover all research-related expenses as well as the cost of travel.