Clinical trials: Mucopolysaccharidosis III
Skeletal Dysplasia, Reverse Overjet
Assessment of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III Patients
The study titled "Reliability Of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III Patients" aims to assess the accuracy and dependability of artificial intelligence (AI) in providing…
- Trial name
- NCT06002373
- Where
- Egypt
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Cairo University
Lysosomal Storage Diseases
Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders
The purpose of this study is to evaluate the effect of small molecule therapy in primary cells derived from patients with lysosomal storage disease.
- Trial name
- NCT03812055
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine