What is HADDTS?

Hypotonia, Ataxia, Developmental Delay, and Tooth-Enamel Defects Syndrome (HADDTS) is an extremely rare but serious genetic condition caused by a mutation in the CTBP1 gene. Fewer than 20 children worldwide are known to be affected. This mutation disrupts normal development in children, leading to significant challenges in reaching motor, cognitive, and speech milestones. Scoliosis, as well as feeding and digestive difficulties are also common.

As the disease progresses, children are more and more prone to respiratory diseases, and as of this day, HADDTS is considered a life-limiting condition. It’s important to remember that this understanding is based on limited data, as it is an extremely rare disease, and our knowledge, along with advancements in medicine, may evolve over time.

What is the
HADDTS Foundation?

The HADDTS Foundation’s mission is to connect the community and stay informed about medical developments. The Foundation is primarily dedicated to accelerating research to better understand HADDTS, the CTBP genes, and to develop effective treatments against mutations on CTBP genes. Since CTBP genes are essential for cellular function, repair, and the processes involved in combating cancer, aging, and neurodegenerative diseases like Alzheimers, advancing research on HADDTS also has broader implications for the general public.

What is the
CTBP1-related syndrome?

CTBP1-related disease includes every condition caused by mutations in the CTBP1 gene, HADDTS is simply the largest subgroup identified so far. Although HADDTS already affects a very small patient population, some other CTBP1 mutations are even rarer, with only one or two documented cases worldwide. We are dedicated to representing every mutation and advancing research.
As for CTBP2 no mutations have been reported yet, but if the first human survives a mutation on this gene, we are here.

What we work on.

  • Creation of a comprehensive registry to track patient data and enable better understanding and management of HADDTS.

  • Formation and convening of a committee comprising scientific experts to guide research directions and clinical strategies.

  • Detailed research documenting the progression, variation, and prognosis of the disease in the patient population.

  • Identifying and evaluating existing medications to determine their potential effectiveness in treating symptoms of HADDTS.

  • Research into Antisense Oligonucleotides (ASOs), a promising therapeutic strategy utilizing short synthetic DNA or RNA molecules designed to target and modulate specific RNA sequences, preventing production or altering the function of proteins implicated in HADDTS.

What are the CTBP Genes?

The CTBP (C-terminal binding protein) genes are special regulators that modulate the expression of other genes—an ability that most other genes do not possess. They have diverse influences and control numerous biological processes. In particular, the genes CTBP1 and CTBP2 impact important areas of medicine.

HADDTS Children

  • Erik

    Germany

  • Laila

    Israel

  • Ruby

    USA