Clinical trials: Proximal Spinal Muscular Atrophy
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma.
- Conditions
- Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease, Cystic Fibrosis, Fragile X Syndrome
- Trial name
- DANNIgene (NCT06147414)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 550 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Telemedicine, Muscular Dystrophies
Telerehabilitation in Proximal Muscle Weakness
The aim of our study is to investigate the effectiveness of two exercise programs supervised by a physiotherapist, performed in the hospital or at their home via electronic connection in a group of LGMD and SMA patients.
- Conditions
- Telemedicine, Muscular Dystrophies, Proximal Myopathy
- Trial name
- NCT04392518
- Testing
- exercise
- Where
- Turkey (Türkiye)
- Volunteers
- 14 people
- Sponsor
- Koç University