Clinical trials: Cystinosis
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
Cystinosis
A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications
Preventing late onset of Cystinosis such as neurological complications and improving compliance to cysteamine treatment remain major challenges in management of subjects with cystinosis.
- Trial name
- Crystobs (NCT02012114)
- Testing
- Cysteamine bitartrate
- Where
- France
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
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
Diabetes Mellitus, Sarcoidosis
Salivary Proteins in Disease and Health
This study will examine saliva samples from healthy volunteers and patients with various diseases to learn more about how disease affects the mouth and salivary glands.
- Conditions
- Diabetes Mellitus, Sarcoidosis, Dental Caries, Sjorgren's Syndrome
- Trial name
- NCT00100204
- Where
- United States
- Volunteers
- 264 people, healthy volunteers welcome
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Cystinosis
The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients
Cystinosis is a rare autosomal recessive disorder, characterized by the abnormal accumulation of cystine in the lysosomes. Cystinosis is mostly caused by mutations in the cystinosin gene (CTNS).
- Trial name
- NCT02533076
- Testing
- Challenge agent: capsaicin, Mechanical stimulation with Von Frey filaments, Temperature sensitivity measurement with Advanced Thermal Stimulation
- Where
- Belgium
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Cystinosis, Nephropathic Cystinosis
Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™
In order to meet FDA standards of safety and efficacy reporting for most new drugs, food-effect bioavailability (the impact that the presence of food in the digestive tract has on the rate and extent at which a drug is absorbed…
- Trial name
- NCT01432561
- Testing
- Cysteamine bitartrate
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- University of California, San Diego