Understanding the severity of Multiple Sulfatase Deficiency
Disease Severity Stratification in Multiple Sulfatase Deficiency
This study is looking at Multiple Sulfatase Deficiency (MSD) in children to create a special scale and find new markers that help understand how the disease affects them, which will be important for future treatments.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10700164 on NIH RePORTER |
What this research studies
This research focuses on Multiple Sulfatase Deficiency (MSD), a rare and progressive neurodegenerative disorder affecting children. The study aims to develop a disease-specific scale and identify novel biomarkers to better assess the severity and progression of MSD. By analyzing data from over 30 enrolled patients, the researchers hope to capture the symptom burden associated with the disease. This information will be crucial for preparing future clinical trials and developing effective therapies.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with Multiple Sulfatase Deficiency, particularly those under the age of 21.
Not a fit: Patients with other unrelated neurodegenerative disorders or those not diagnosed with Multiple Sulfatase Deficiency may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved methods for assessing disease severity and ultimately contribute to the development of effective treatments for MSD.
How similar studies have performed: Previous research has shown promise in developing biomarkers and treatment strategies for similar rare genetic disorders, indicating potential success for this approach.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Ahrens-Nicklas, Rebecca Clare — Children's Hosp of Philadelphia
- Study coordinator: Ahrens-Nicklas, Rebecca Clare
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.