Association for Creatine Deficiencies (ACD) Awards Dr. Gerald Lipshutz, Ph.D., With Its Gene Therapy Advancement Award (GTA)

​​​​The Association for Creatine Deficiencies (ACD) is excited to award Dr. Gerald Lipshutz, Ph.D., with the second ACD Gene Therapy Advancement (GTA) award of $10,000.

The ACD was established in 2012, by parents with children diagnosed with a Cerebral Creatine Deficiency Syndrome (CCDS). ACD's mission is to drive and facilitate research for treatments and cures for creatine deficiencies as well as to provide patient, family, and public education, and to advocate for early intervention through newborn screening. To support research, the ACD can help with research grants, biosamples, survey data, and other collaboration opportunities. ACD is a proud member and grantee of the Rare as One network supported by the Chan Zuckerberg Initiative.

In the winter of 2019, the CCDS patient community raised an initial fund of $50,000 to be used towards gene therapy research efforts. With this support in mind, the ACD established the CCDS Gene Therapy Consortium in 2020 to foster concentrated efforts into gene therapy for creatine deficiencies. The mission of the consortium is to facilitate the timely sharing of information and development tools among labs that are pursuing gene therapies for creatine deficiencies. ACD believes that by building a collaborative environment and supporting shareable tools through grants, it can shorten the time line and effort required to find gene therapy solutions for creatine deficiencies. The consortium meets on a quarterly basis as a group to discuss the latest research and provide peer expertise.

“Bringing all researchers to the table to share their experience and insight is key to our mission of supporting multiple research avenues for all three CCDS. Dr Lipshutz’s pursuit of gene therapy for GAMT deficiency is much needed for our community, and we are happy to be able to support his work and look forward to seeing future results,” said Laura Trutoiu, ACD Director of Research.

In October 2020, the ACD awarded the second GTA grant to Dr. Gerry Lipshutz for his ongoing efforts in gene therapy for Guanidinoacetate Methyltransferase (GAMT) deficiency disease. GAMT deficiency is one of the two common cerebral creatine deficiency syndromes arising due to autosomal recessive mutations in the GAMT gene. Symptom onset typically occurs before three years of age including features of autism and self-mutilation along with intellectual disability and seizures. The current standard for therapy is life-long and includes oral creatine to replenish cerebral creatine along with supplementation of ornithine and restriction of dietary arginine and protein.

Dr. Lipshutz and his lab have developed a viral vector based gene therapy for human GAMT that is currently in the early stages of testing in preclinical mouse models. Proceeds of the award will be utilized by Dr. Lipshutz to conduct measurements of guanidinoacetate (GAA) and creatine in biosamples collected from GAMT deficient mice that have received adeno associated viral vector (AAV:GAMT) based GAMT gene therapy. 

Find full press release here.

Source: Association for Creatine Deficiencies

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Categories: Non Profit

Tags: AGAT, CCDS, creatine deficiency, CTD, GAMT, gene therapy, rare diseases, research


About Association for Creatine Deficiencies

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The Association for Creatine Deficiencies' mission is to eliminate the challenges of Cerebral Creatine Deficiencies through education, advocacy, and medical research.

Heidi Wallis
Heidi Wallis
ACD Administrative Director, Association for Creatine Deficiencies
Association for Creatine Deficiencies
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