Clinical trials: Nephronophthisis
Dry Eye Disease
Comparison of Mucin Levels at the Ocular Surface of Visual Display Users With and Without Dry Eye Disease
The study aimed to evaluate 1) if levels of the glycocalyx membrane mucins, including MUC1, MUC4, MUC16 and MUC20, are altered in conjunctival cells of visual display users With and Without Dry Eye Disease, and 2) if mucin levels…
- Trial name
- NCT05604651
- Testing
- no intervention
- Where
- China
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- Peking University Third Hospital
Nephronophthisis, NPH1
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive
- Trial name
- NPH1 (NCT06648044)
- Testing
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Where
- France
- Volunteers
- 310 people, healthy volunteers welcome
- Sponsor
- Imagine Institute
Ciliopathies, Nephronophthisis
Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure.
- Conditions
- Ciliopathies, Nephronophthisis, Senior-Loken Syndrome, Joubert Syndrome
- Trial name
- CILLICORIRCM (NCT04874909)
- Testing
- Blood sample, Urine sample
- Where
- France
- Volunteers
- 240 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cow Milk Protein Allergy, Mucin
Effect of Elimination Diet on Intestinal Mucus Barrier in Infants With Cow's Milk Protein Allergy
The goal of this observational study is to learn about the effects of cow's milk protein elimination diets on breastfed infants under 26 weeks of age with newly diagnosed non-IgE-mediated CMPA.
- Conditions
- Cow Milk Protein Allergy, Mucin, Immunoglobulin A, Diet Therapy
- Trial name
- NCT07242950
- Where
- Turkey (Türkiye)
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Baskent University
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
Nephronophthisis
Nephronophthisis : Clinical and Genetic Study
to describe evolution of Nephronophthisis
- Trial name
- NEPHAER (NCT01022957)
- Testing
- genetic diagnosis
- Where
- France
- Volunteers
- 150 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Interstitial Lung Disease
The Role of KL-6 in the Clinical Diagnosis of ILD
The purpose of the study is to evaluate the significance of KL-6 as a biomarker in the clinical diagnosis of interstitial lung disease (ILD) by detecting serum KL-6 levels among patients with ILD, and comparing them to the…
- Trial name
- NCT02197364
- Volunteers
- 1,190 people
- Sponsor
- Shanghai Pulmonary Hospital, Shanghai, China
SARS CoV 2 Infection, Alveolar; Injury
The Potential Role of sRAGE, KL-6, and SP-D as Prognostic Factors in Children With COVID-19
COVID-19 causes a wide spectrum of clinical illness, from upper respiratory symptoms to severe respiratory failure and death. Several plasma biomarkers -such as IL-6, C-reactive protein (CRP), D-dimer, the…
- Conditions
- SARS CoV 2 Infection, Alveolar; Injury, Children, Pneumonia, Viral
- Trial name
- NCT05619640
- Where
- Turkey (Türkiye)
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Haseki Training and Research Hospital
Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease
ARPKD Database Study
Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl…
- Conditions
- Hepato/Renal Fibrocystic Disease, Autosomal Recessive Polycystic Kidney Disease, Joubert Syndrome, Bardet Biedl Syndrome
- Trial name
- ARPKD (NCT01401998)
- Where
- 6 sites in United States
- Volunteers
- 200 people
- Sponsor
- Children's Hospital of Philadelphia