Clinical trials: Alport Syndrome
Alport Nephropathy
Urine, DNA and Clinical Information Collection From Patients With Alport Nephropathy.
This biomarker study is a follow-up to CPLATFRM2201. The goal of CBASICHR0005 is to collect another urine sample, interval clinical information, and an optional DNA sample from as many of the original 80 patients as possible.
- Trial name
- NCT03074357
- Where
- United States
- Volunteers
- 68 people, healthy volunteers welcome
- Sponsor
- Novartis Pharmaceuticals
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
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
Alport Syndrome, Hereditary Kidney Disease
Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome
The hereditary type IV collagen disease Alport syndrome leads to kidney failure early in life. Currently there are no specific medications approved for treatment, however, several therapies have been evaluated preclinically and…
- Conditions
- Alport Syndrome, Hereditary Kidney Disease, Pediatric Kidney Disease, Thin Basement Membrane Disease
- Trial name
- Alport-XXL (NCT02378805)
- Testing
- ACE-inhibitor, Angiotensin-receptor blocker (ARB), HMG-Coenzyme inhibitor (statin)
- Where
- Germany
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- University Hospital Goettingen