Science
We aim to enable polyQ targeting therapies to better predict onset and progression of disease of the different patient groups (early-onset, adult-onset and carriers of intermediate repeats).
Predicting, Slowing, and Curing Hereditary Brain Diseases
In various hereditary brain diseases, a mutated protein damages brain cells, resulting in health decline, limitations, and death. There is hope with some experimental therapies that can inhibit the production or toxic effects of these proteins. A consortium of organizations has received a €4.7 million grant from NWO to research and develop these treatments, with additional contributions of €0.8 million.
This includes Huntington’s disease, Spinocerebellar Ataxia (SCA) type 1, and SCA type 3. These hereditary diseases are caused by a similar DNA error, leading to the production of a diseased protein. The diseases can occur at a relatively young age and often rapidly lead to significant limitations.
Experimental Treatments
To date, there are no treatments that stop the diseases or slow the decline. Recent promising research has begun with experimental treatments, via spinal taps or a single administration in the brain, to inhibit the production of disease-causing proteins. But before these treatments can be safely and effectively applied, several important questions must be answered, such as:
- When is the optimal time to start treatment?
- Who will benefit from these therapies, and can we better predict the onset and progression of the disease for each patient individually?
- Can we develop alternative therapeutic strategies to lower the harmful protein, preferably with a less invasive administration?
- How can we assist gene carriers in making personal decisions about life planning and treatment options?
Collaborative Effort
To address all these questions in a coherent study (named CureQ), various organizations decided to collaborate. Researchers and physicians from various Dutch universities, different HBO programs, ethicists, biotechnology companies, patient associations, and the Proefdiervrij Foundation will work together in this study, aiming to enable a personalized approach and treatment for Huntington’s and SCAs. The total research budget is €5.5 million, of which €4.7 million is subsidized by NWO. The anticipated breakthroughs in new therapeutic strategies combined with the use of cultured brain cell models of gene carriers should lead to personalized treatments and perspective for at-risk individuals and gene carriers as well as their families.
- AmsterdamUMC (hoofdaanvrager en onderzoeksleider)
- ADCA/Ataxie Vereniging Nederland
- Campagneteam Huntington
- Erasmus MC
- Hanze Hogeschool
- Hogeschool van Amsterdam
- Leiden UMC
- Maastricht UMC+
- Prinses Máxima Centrum
- Radboudumc
- Stichting Proefdiervrij
- UMC Groningen
- VectorY
- Vereniging van Huntington
- Vico Therapeutics
- Hersenstichting
Coördinator: prof. Eric Reits, AmsterdamUMC (e.a.reits@amsterdamumc.nl)