Clinical trials: Primary Hyperoxaluria
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
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
Primary Hyperoxaluria
Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria
This is a double-blind, placebo-controlled, dose escalation trial of DCR-PHXC in Healthy Volunteers (HVs) and patients with Primary Hyperoxaluria (PH).
- Trial name
- NCT03392896
- Testing
- DCR-PHXC
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Primary Hyperoxaluria Type 1 (PH1)
Study of Lumasiran in Healthy Adults and Patients With Primary Hyperoxaluria Type 1
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of single-ascending doses (SAD) and multiple-ascending doses (MAD) of lumasiran in healthy adult volunteers and subjects…
- Trial name
- NCT02706886
- Testing
- Lumasiran
- Where
- 9 sites in France, Germany and 3 more
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Alnylam Pharmaceuticals
Primary Hyperoxaluria Type 1
Proteomics of Primary Hyperoxaluria Type 1
The purpose of this study is to identify unique urine protein markers of Primary Hyperoxaluria type 1 (PH1) compared to healthy controls.
- Trial name
- PH1 (NCT03067142)
- Testing
- Observational
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
Oxalate, Primary Hyperoxaluria, Microbiome
Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients
To characterize the microbiome in 4 groups of subjects (primary hyperoxaluria type I (PH1), idiopathic CaOx stone, enteric hyperoxaluria (EH) and healthy participants) by comparing the number of species and diversity of the…
- Trial name
- NCT02794649
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- VA New York Harbor Healthcare System
Primary Hyperoxaluria Type 1, Idiopathic Hypercalciuria
IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA
The aim of this study is to know the difference between protein profiles (multi-analyte profile) of PH1 patients, idiopathic hypercalciuria (IH) patients and PH1 patients 'siblings.
- Trial name
- PH1 (NCT02830009)
- Testing
- Urines samples, Blood sample
- Where
- France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Primary Hyperoxaluria
Primary Hyperoxaluria Mutation Genotyping
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.
- Trial name
- NCT00589225
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 902 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic