Clinical trials: Polyendocrinopathies, Autoimmune
Down Syndrome, Polyendocrinopathies, Autoimmune
Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome
This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome.
- Conditions
- Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
- Trial name
- NCT02421276
- Testing
- Phlebotomy
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Chronic Mucocutaneous Candidiasis, Invasive Aspergillosis
Natural History of Individuals With Immune System Problems That Lead to Fungal Infections
Background: The immune system is made up of special cells, tissues, and organs that fight infections. Problems with this system may lead to frequent, severe, or unusual fungal infections.
- Conditions
- Chronic Mucocutaneous Candidiasis, Invasive Aspergillosis, CARD9, APECED
- Trial name
- NCT01386437
- Where
- United States
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Autoimmune Polyendocrine Syndrome Type II
Prevalence and Genetic Alternation of Autoimmune Polyglandular Syndrome Type II in Taiwan
Autoimmune polyendocrine syndrome (APS) is an autoimmune disease involving at least two endocrine organ. It is classified into type I and type II diseases. Among them, APS type II is more common.
- Trial name
- NCT05578105
- Testing
- no intervention
- Where
- Taiwan
- Volunteers
- 650 people
- Sponsor
- National Taiwan University Hospital
Diabetes Mellitus, Adrenal Insufficiency
Treatment Study in Patients Treated With Both Insulin & Hydrocortisone
The aim of INS.CORT trial is, by studying glycemic variability in a well-defined patient group with both insulin \& hydrocortisone (patients with concomitant insulin-treated diabetes \& Addison's disease) and collecting…
- Conditions
- Diabetes Mellitus, Adrenal Insufficiency, Polyglandular Autoimmune Syndrome
- Trial name
- INSCORT (NCT05716607)
- Testing
- OD dual-release Hydrocortisone, TID Hydrocortisone
- Where
- Sweden
- Sponsor
- Vastra Gotaland Region
Hypoparathyroidism, Hypocalcemia
Comparing Pump With Subcutaneous Injection Delivery of PTH 1-34 in the Management of Chronic Hypoparathyroidism
This randomized crossover study will evaluate the safety, efficacy, and pharmacodynamics of synthetic human PTH 1-34 (PTH) delivered by an insulin pump (omnipod) compared with twice- daily subcutaneous injections.
- Conditions
- Hypoparathyroidism, Hypocalcemia, Autoimmune Polyendocrine Syndrome Type 1, Autosomal Dominant Hypocalcemia Type 1 (ADH1)
- Trial name
- NCT00743782
- Testing
- Synthetic Human Parathyroid Hormone 1-34 pump
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
Polyendocrinopathies, Autoimmune
Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous…
- Trial name
- APECED2 (NCT03800056)
- Where
- France
- Volunteers
- 7 people
- Sponsor
- University Hospital, Lille
Candidiasis, Chronic Mucocutaneous
CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis
This is an open-label, dose-titration trial to study the efficacy, safety, and pharmacokinetics of oral cochleate amphotericin B (CAMB) in the treatment of mucocutaneous candidiasis infections in patients who are refractory or…
- Trial name
- CAMB (NCT02629419)
- Testing
- Amphotericin B
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Matinas BioPharma Nanotechnologies, Inc.
Type 1 Diabetes, Hashimoto Disease
Telehealth Music Therapy for Adults With Endocrine Disorder and Depression
The goal of this clinical trial is to explore if a telehealth music therapy intervention helps with quality of life, depression symptoms, anxiety symptoms. It will also explore the participants' relationship to music.
- Conditions
- Type 1 Diabetes, Hashimoto Disease, Graves Disease, Addison Disease
- Trial name
- NCT07413874
- Testing
- Telehealth Resource Oriented Music Therapy
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Appalachian State University
Primary Immunodeficiencies, APECED
Participation in a Research Registry for Immune Disorders
Background: People with primary immune deficiency diseases (PIDD) have weak immune systems. This makes it hard for their bodies to fight infection.
- Conditions
- Primary Immunodeficiencies, APECED, CGD, Wiskott-Aldrich Syndrome
- Trial name
- NCT01953016
- Where
- United States
- Volunteers
- 716 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Autoimmune Polyglandular Syndrome Type I, Autoimmune Keratitis
Tyrosine Hydroxylase Antibody Levels in Autoimmune Polyglandular Syndrome Type 1 Associated Keratitis
Tyrosine hydroxylase autoantibodies impair sympathetic innervation leading to keratitis. In this study, the investigators have shown the significant association between severity of keratitis and presence of tyrosine hydroxylase…
- Trial name
- NCT04375852
- Testing
- Detection of autoantibodies
- Volunteers
- 16 people
- Sponsor
- The Eye Center and The Eye Foundation for Research in Ophthalmology
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy Enteritis
Randomized Stepped Wedge Study of Emapalumab in APECED Enteritis
Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as Autoimmune polyendocrine syndrome type-1 (APS-1), is a disease that causes the immune system to attack parts of a person's body.
- Trial name
- NCT07202598
- Testing
- Emapalumab
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
AIRE Deficiency
Analysis of the Role of AIRE in Autoimmune Neurological Diseases Associated With Autoantibodies
Studying genetic predisposition in autoimmune neurological diseases could help improve diagnostic accuracy and offer new treatment possibilities
- Trial name
- NAD-AIRE (NCT06941584)
- Testing
- Test for AQP4, AChR, LGI1, and CASPR2 autoantibodies using cell-based assay, AIRE single gene sequencing, Molecular typing of HLA class I and II alleles
- Where
- Italy
- Volunteers
- 40 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Autoimmune Lymphoproliferative Syndrome, Autoimmune Cytopenia
Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
The main objective of this study is to generate diagnosis and therapeutic-decision tools through the identification of molecular causes of PIDs with autoimmunity/inflammation and the variability in disease outcome at the…
- Conditions
- Autoimmune Lymphoproliferative Syndrome, Autoimmune Cytopenia, Autoimmune Diseases, Autoimmune Anemia
- Trial name
- ATRACTion (NCT04902807)
- Testing
- Collection of samples
- Where
- France
- Volunteers
- 325 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
APECED
Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome
The objective of the study will define the mutational spectrum in this French cohort, in patients with APECED syndrome genetically authenticated
- Trial name
- APECED (NCT03751683)
- Where
- France
- Volunteers
- 29 people
- Sponsor
- University Hospital, Lille
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (Apeced), Alopecia Areata
Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia Areata
Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a problem of the immune system. In people with APECED, the immune system makes a mistake and attacks the body.
- Trial name
- NCT05398809
- Testing
- Ruxolitinib
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)