Welcome to Cure ADSSL1's research hub, where we are committed to advancing scientific understanding and developing effective treatments for ADSS1 deficiency, a rare purine metabolism defect. Explore our research tools, ongoing programs, and current priorities.
Research Tools
We have developed pre-clinical research tools in collaboration with our research collaborators that are available for sharing with researchers interested in studying inborn error of metabolism, ADSS(L)1 deficiency.
Animal Models
- ADSS(L)1 Knockout Mouse model
- ADSS(L)1 Knockin Mouse model
- ADSS(L)1 deficient C. elegans model
Cell Models
- Patient-derived iPSC lines: Disease-in-a-dish model development in progress
- Patient-derived Fibroblasts: Available at Coriell biobank repository
Research Programs
Discover our ongoing research programs, each designed to make significant strides in understanding and treating ADSS1 deficiency.
1. Small Molecule Drug Development
- Currently undergoing testing in C. elegans and cell models.
2. Drug Re-pursposing
- Disease characterization in cell models in progress.
3. Gene Replacement Therapy
- Disease characterization in progress at Dr. Beggs Lab, Boston Children's Hospital.
Current Research Priorities
- 1. Disease characterization in animal and cell models.
- 2. Studying the underlying disease mechanism resulting from the imbalance of purine metabolism.
- 3. Identification of biomarkers.
- 4. Pre-clinical work for small molecule drug testing in animal and cell models.
- 5. Pre-clinical work for gene therapy testing in animal and cell models.
- 6. Natural history study.
Completed and Upcoming Studies
Explore our recent publications and upcoming studies:
Published Studies (2023):
- A pilot investigation of muscle integrity in patients with ADSSL1 myopathy using electrical impedance myography
- Adenylosuccinic Acid: An Orphan Drug with Untapped Potential
- Childhood-Onset Myopathy Caused by a Recurrent ADSSL1 Missense Variant
Upcoming Studies:
- Patient and Caregiver Experience.
- Natural History Study.
Other key scientific papers related to ADSSL1 myopathy
- ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy (2016)
- Distal myopathy with ADSSL1 mutations in Korean patients (2017)
- Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients (2020)
- ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features (2020)
For inquiries or collaboration opportunities, please contact us. Thank you for supporting our mission to cure ADSSL1 deficiency. Together, we can make a difference.