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Foundation to Fight H-ABC, University of Massachusetts Medical School and Yale University Initiate Gene Therapy Study Targeting Cure for Rare Disease

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ROCKVILLE, Md., Oct. 13, 2020 /PRNewswire/ — Foundation to Fight H-ABC, a non-profit organization dedicated to increasing awareness and driving development of a cure for the degenerative children’s disease, H-ABC, today announced a sponsored research agreement with the University of Massachusetts Medical School and Yale University to advance a targeted gene therapy for H-ABC.

“We have high hopes to quickly prove efficacy with this approach to move research forward and find a permanent cure for this devastating disease,” said Michele Sloan, Co-Founder, Foundation to Fight H-ABC.

H-ABC (hypomyelination with atrophy of the basal ganglia and cerebellum) belongs to a group of conditions called leukodystrophies, diseases that affect the white matter of the brain. These diseases disrupt the growth or maintenance of the myelin sheath, a protective layer that insulates nerve cells and allows for the transmission of messages between cells.

Caused by a mutation in the TUBB4A gene, H-ABC is a rare genetic disorder that affects certain parts of the brain—specifically the basal ganglia and the cerebellum, which control movement. H-ABC targets these important structures, reducing both their size and function. As a result, children who suffer from H-ABC often experience motor problems, cannot walk, talk, or sit on their own. Currently, there is no known cure for this disabling and life-threatening condition.

The teams of Dr. Guangping Gao (University of Massachusetts Medical School) and Dr. Karel Liem (Yale School of Medicine) will combine extensive expertise in the fields of Adeno-associated virus (AAV), a platform for gene delivery for the treatment of a variety of human diseases and H-ABC disease models, to develop AAV vectors to silence or outcompete the mutated TUBB4A gene.

“To date, AAV-based gene delivery system is the vector of choice for in vivo gene therapy of many currently untreatable rare diseases including H-ABC,” said Guangping Gao,

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Texas flouted special education guidelines for therapy, U.S. officials say

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Texas has failed to ensure that children with developmental delays have early access to speech and occupational therapy and other services, according to a letter ​written this week by U.S. education officials who say the state is not complying with federal special education guidelines.

The Texas Health and Human Services Commission has three months to draw up a plan to ensure that a program that pays for infants and toddlers to receive such early intervention therapies is reaching all eligible Texans, federal officials wrote. Failure to do so could cost the state federal funding.

After years of budget cuts in Texas caused nonprofit therapy providers to drop out of the program, U.S. Department of Education officials found Texas to be in “significant noncompliance” with education guidelines on early intervention services.

Children’s advocates called on state leaders to provide additional funding to Texas’ Early Childhood Intervention program.

“The investigation clearly shows that state funding cuts to ECI made it harder for Texas toddlers with autism, speech delays, Down syndrome, and disabilities to get the services they need,” said Stephanie Rubin, chief executive of the nonprofit Texans Care for Children.

“Because so much brain development happens during the first couple years of life, we know that investing in infants and toddlers has a huge payoff in terms of kids meeting developmental goals, being ready for school, and growing up healthy,” she added.

Christine Mann, a spokesperson for the Texas Health and Human Services Commission, said the agency is reviewing the report to determine its next steps.

The Early Childhood Intervention program pays for caseworkers to work with families to track the progress of developmentally delayed children younger than 3 years old,