News & Updates
2024 End-of-Year Newsletter Now Available (12-6-24)
Click here.
Canavan Foundation Signs onto Letter Requesting Reauthorization of Rare Pediatric Diseases Priority Review Voucher program. (12-6--24)
Read letter to Majority Leader Chuck Schumer, and Minority Leader Mitch McConnell; Speaker Mike Johnson and Minority Leader Hakim Jeffries here.
Myrtelle Announces Significant Reduction in N-Acetylaspartate (NAA), a Key Biomarker, in Patients Treated in Its Phase 1/2 Clinical Trial of the Investigational Gene Therapy rAAV-Olig001-ASPA for Canavan Disease (10-1-24)
New York, NY, October 1st, 2024 - Myrtelle Inc. (“Myrtelle” or the “Company”), a gene therapy company focused on developing transformative treatments for neurodegenerative diseases, today announced clinical trial findings showing a significant biomarker change in patients treated with the Company’s investigational gene therapy for Canavan disease (CD), rAAV-Oligo001-ASPA. Analysis of Cerebral Spinal Fluid (CSF) from seven patients, observed up to 24-month post treatment milestone revealed that each patient demonstrated a decrease of over 80% in N-Acetylaspartate (NAA) from their baseline measurement. Observations of these patients using Magnetic Resonance Imaging (MRI) also demonstrated increases in brain white matter and myelin volume over the same time intervals. The Company’s open-label Phase 1/2 First-in-Human (FIH) clinical trial is being conducted at Dayton Children’s Hospital (Dayton, Ohio) and includes baseline and post treatment assessments at 1, 3, 6, and 12 months the first year after surgery, and then once every 12 months for 5 years.
Full press release here.
Myriad Genetics and jscreen™ Announce Strategic Partnership to Advance Health Equity and Genetic Testing Access (Press Release 10-16-24)
SALT LAKE CITY, Oct. 16, 2024 (GLOBE NEWSWIRE) -- Myriad Genetics Inc. (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced a strategic partnership with jscreen™, a national organization that delivers education and access to preventative genetic testing with a focus on high-risk populations.
Full text here.
Canavan Foundation signs on to Congressional Letter regarding Rare Pediatric Diseases (11-14-24)
Canavan Foundation President Orren Alperstein Gives Testimony an an FDA Listening Session organized by the National Tay Sachs and Allied Diseases Foundation (NTSAD)
Update on BridgeBio/Aspa Gene Therapy Trial (10-28-24)
Novel gene replacment therapy trial continues with promising prelminary results. Click here.
2023 Newsletter
The Foundation's 2023 Newsletter is available in PDF format. Click here.
2022 Newsletter
The Foundation's 2022 Newsletter is available in PDF format. Click here.
BridgeBio Pharma Announces More Encourage Data from the CANaspire gene therapy trial. (5-23-23)
Aspa Therapeutics, a BridgeBio company, shared additional encouraging data from the CANaspire gene therapy trial during an invited presentation at the 26th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT). Read more here.
BridgeBio Pharma Announces Continuing Positive Data for BBP-812, its Investigational AAV9 Gene Therapy for Canavan Disease (10-13-22)
Aspa Therapeutics, a BridgeBio company, shared additional encouraging data from the CANaspire gene therapy trial during a poster presentation at the Child Neurology Society meeting held October 12-15, 2022 in Cincinnati, Ohio. Click here for further information and links.
BridgeBio Pharma Announces Early Positive Data for BBP-812, its Investigational AAV9 Gene Therapy for Canavan Disease (6-20-22)
BridgeBio Pharma, Inc., a commercial-stage biopharmaceutical company focused on genetic diseases and cancers, today announced promising pharmacodynamic data from the first two participants dosed in CANaspire, its Phase 1/2 clinical trial of BBP-812, an investigational intravenous (IV) adeno-associated virus serotype 9 (AAV9) gene therapy for the treatment of Canavan disease. Full press release from BridgeBio here.
Preliminary Observations on Aspa's CANAspire Gene Replacement Clinical Trial (3-9-22)
Preliminary results from Aspa’s CANAspire gene therapy treatment shows promising results as reflected in the decrease of a substance called N-acetylaspartic acid (NAA). This would indicate success in providing a healthy copy of the ASPA gene in order to restore the function of the ASPA protein doing its job to break down NAA. More here.
Myrtelle Receives FDA Fast Track, Rare Pediatric Disease, and Orphan Drug Designations for its Proprietary Gene Therapy for the Treatment of Canavan Disease
Myrtelle Inc., a clinical stage gene therapy company focused on developing transformative treatments for neurodegenerative diseases, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track, Rare Pediatric Disease (RPD), and Orphan Drug designations for its lead clinical-stage gene therapy, rAAV-Olig001-ASPA, for the treatment of patients with Canavan Disease (CD). More here
2021 Newsletter (12-10-21)
The Foundation's 2021 Newsletter is available in PDF format. Click here.
BridgeBio Pharma Announces Dosing Of First Patient In Phase 1/2 Trial Of Aspa Therapeutics' Investigational Gene Therapy For Canavan Disease. (11-3-21)
If successful, BridgeBio’s gene therapy could be the first approved therapeutic option for children born with Canavan disease. In a recent communication, they write:
“Based on the efficacy and safety data we’ve observed in our preclinical studies, we are hopeful that our investigational gene therapy can become a meaningful treatment option for children living with Canavan. Right now, these children only have access to supportive care because there are currently no approved therapies to treat this devastating disease,” said Adam Shaywitz, M.D., Ph.D., chief medical officer at BridgeBio Gene Therapy.
The Phase 1/2 open-label study is designed to evaluate the safety, tolerability, and pharmacodynamic activity of the company’s gene therapy in pediatric patients with Canavan disease. In the initial dose-finding phase of the study, each patient will receive a single intravenous infusion. The primary outcomes of the study are safety; motor function and development will also be assessed. Preclinical proof-of-concept data have shown the approach restores survival and normal motor function.
“Gene therapy is designed to treat diseases at their source, which for Canavan disease would be an extremely beneficial treatment option. Through this trial, we hope to provide evidence that this investigational therapy could represent a promising treatment option for Canavan patients and their families. We are grateful to the first family for participating,” said Florian Eichler, M.D., director of the Leukodystrophy Service and principal investigator at Massachusetts General Hospital, the first clinical site open in the CANaspire trial.
BridgeBio’s gene therapy was originally developed by Guangping Gao, Ph.D., and Dominic J. Gessler, M.D., Ph.D., at the University of Massachusetts Medical School. Dr. Gao, a pioneer in AAV gene therapy, was also the first person to clone the ASPA gene, which in its mutated form causes Canavan disease. Dr. Gao has been working on developing a cure for Canavan disease for more than 25 years.
Complete information here.
Financial Support For Comprehensive Carrier Screening
We are pleased to announce that for a limited time the Canavan Foundation, The Evan Lee Ungerleider Fund of the National Tay Sachs and Allied Diseases Foundation (NTSAD), and the NTSAD New York Area Fund are offering financial support for comprehensive reproductive carrier screening for anyone seeking to start or expand their family who would not otherwise be able to afford the cost. Screening is done by means of an at-home collection kit provided by JScreen. The lab may file an insurance claim if you have health insurance, but you will not be responsible for any out of pocket costs. If you do not have health insurance, the testing will be free of charge. Visit JScreen and enter FREESCREEN21 upon checkout.
Aspa Therapeutics Receives Approval for Clinical Trial (8-12-21)
Aspa Therapeutics, a BridgeBio Pharma affiliate company developing a gene therapy to treat patients with Canavan disease, yesterday announced the initiation of their first clinical trial for BBP-812, Aspa’s investigational gene therapy for Canavan disease.
The Phase 1/2 clinical trial, called CANaspire, will evaluate the safety and efficacy of a one-time, intravenous (IV) dose of BBP-812 in children with Canavan disease.
Participant screening will begin immediately at a clinical trial site in the United States, Massachusetts General Hospital in Boston, Massachusetts, and at first will be limited to US residents. Aspa is working as fast as possible to enable recruitment from outside the United States and are also working to add additional clinical sites in the US and abroad. Aspa will pay for all trial-related expenses, including travel; there will be no cost to families participating in the trial.
In addition to the gene therapy trial, Aspa is conducting a natural history study, CANinform, in patients with Canavan disease. Thirty five patients have been enrolled and several others are in process. CANinform will will allow evaluation of whether the gene therapy is working. The Aspa study team is grateful for the participation of all the families who have enrolled in the natural history study. Enrollment in the CANinform natural history study remains open for interested families.
For the full text of the announcement, with links for more information and contacts, click here.
There is also information available on ClinicalTrials.gov.
ACMG (American College of Genetics and Genomics) updates its guidance: Carrier Screening should be offered to all pregnant patients regardless of ethnicity. (8-11-21)
There has been an important change in a Practice Resource provided to clinicians by the ACMG (American College of Genetics and Genomics).
This ACMG Practice Resource recognizes the need for more equitable carrier screening, stating that “carrier screening paradigms should be ethnic and population neutral and more inclusive of diverse populations.” ACMG guidance specifically no longer recommends an initial approach to carrier screening focused solely on Cystic Fibrosis, Spinal Muscular Atrophy, or ethnicity because it does not provide equitable evaluation. Instead, ACMG recommends all pregnant patients and those planning pregnancy should be offered carrier screening for conditions with a carrier frequency of >1/200, which encompasses over 100 inheritable autosomal recessive and X-linked conditions, and that payers should provide coverage for this level of carrier screening. This recommendation replaces ACMG’s previous guidance and position statements on prenatal/preconception expanded carrier screening from more than a decade ago.
“With a focus on equity, this Practice Resource from ACMG is a major step forward in recognizing changing trends in population demographics such as individuals who identify ancestral background as being from two or more races and the complexity in obtaining accurate self-reported ancestry and family history,” said Dr. Haywood Brown, board certified obstetrician and gynecologist and AECS Coalition Executive Medical Director. He added, “By offering carrier screening irrespective of self-reported race/ethnicity, we are now able to provide important information to prospective parents that was previously only reserved for those who fit into socially defined constructs of risk.”
Click here for the ACMG update and a press release from the Access To Equitable Carrier Screening Coalition.
New Video Campaign to Promote Preconception Screening for Parents-to-Be (8-1-21)
The Canavan Foundation recently took the lead in a partnership with the Jewish Genetic Disease Consortium to produce a three-minute video describing the basics of genetic carrier screening for parents-to-be, under the umbrella of "Bulding Healthy Families." The video, which stresses the importance of screening before pregnancy, is being distributed to all JGDC members, to synagogues around the country, and to medical providers. The Canavan Foundation is also funding a paid Facebook campaign, where the video will be shown to engaged and married woman, 20 to 45. You can view the video here. Please share with anyone in your life who is considering starting or adding to their family!
CANinform, the Canavan Disease Natural History Study
CANinform, the Canavan disease natural history study, is still open. The study gathers information essential to developing safe, effective treatments to help children of all ages currently living with Canavan disease. If you or anyone you know has been affected by Canavan disease, you can learn more from a short, informative video. Click here for video. To learn more about the cutting-edge research being done by Aspa, Therapeutics, click here.
"Jewish" Genetic Diseases in the Non-Jewish Population (2-3-12)
A recent article in Genetics in Medicine finds that while genetic disease carrier rates among persons of Ashkenazi Jewish (AJ) heritage were the highest of all population groups screened, a significant number of carriers do not belong to any known risk group.
The article reviewed the results of screening more than 23,000 individuals for 108 genetic diseases by means of the Universal Genetic Test by Counsyl.
As expected, persons of AJ heritage were the most likely to be carriers for genetic conditions. 43.6% of those self-identified as Ashkenazi were carriers of at least one condition and 13.3% were carriers of more than one condition.
However, a significant number of individuals who did not self-report Ashkenazi heritage were found to be carriers of diseases traditionally identified as Ashkenazi. 39.4% of the carriers for Canavan disease were not Ashkenazi, as were 40.4% of the carriers for Tay-Sachs, 50.0% of the carriers for ML-4 and 49.3% of the carriers for Gaucher disease.
The carrier rates for these diseases are many times lower among the general population. For Canavan disease the study found only 1 in 683 non-Ashkenazi carriers versus 1 in 55 in the Ashkenazi population. But the number of non-Ashkenazi carriers is much closer: for Canavan disease 28 of the carriers were non-Ashkenazi compared with 43 in the Ashkenazi population.
These findings do nothing to diminish the continuing need for genetic carrier screening for persons of Ashkenazi Jewish heritage. But they do point out the utility of universal screening of the general population for a wide range of diseases, which will uncover carriers of serious genetic diseases who otherwise would only learn of their carrier status when they give birth to an affected child.
Recent Articles of Interest
"Jews are a Race." In his new book, “Legacy: A Genetic History of the Jewish People,” Harry Ostrer, a medical geneticist and professor at Albert Einstein College of Medicine in New York, claims that Jews are different, and the differences are not just skin deep. Jews exhibit, he writes, a distinctive genetic signature.
"A Tree Will Only Be As Strong As Its Roots." Jewish Press, January 23, 2013. A genetic counselor who participated in the JGDC's Rabbi Education Program reflects on the continued need to promote Jewish genetc disease screening.
"Genetic Testing Poses Jewish Ethnical Issues," The Forward, November 25, 2012. The expanding power of genetic screening raises ethical issues.
“The Joys and Dilemmas of a Woman Physician” Jerusalem Post, October 11, 2012. Profile of an Orthodox Jewish woman OB/GYN and fertility specialist in Israel.
“A Community’s Twist on Genetic Tests,” Wall Street Journal, July 12, 2012. A critical look at Dor Yeshorim, the carrier screening program utilized by the ultra-Orthodox.
