Clinical Trials on Isolated Autosomal Dominant Hypomagnesaemia Glaudemans Type

Total 17 results

Medical University of Vienna

Unknown

Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease (RAP)

Polycystic Kidney, Type 1 Autosomal Dominant Disease | Polycystic Kidney, Type 2 Autosomal Dominant Disease

Austria
Indiana University
Horizon Pharma Ireland, Ltd., Dublin Ireland

Completed

Use of ACTIMMUNE in Patients With ADO2

Autosomal Dominant Osteopetrosis Type 2

United States
University of Texas Southwestern Medical Center

Withdrawn

Cross-over Pilot Study of Blood Cholesterol Response to Dietary Saturated Fat in Patients With Autosomal Dominant Hypercholesterolemia

Familial Hypercholesterolemia

United States
Changlin Mei
The First Affiliated Hospital with Nanjing Medical University; The First Affiliated... and other collaborators

Completed

Using Preimplantation Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease Patients: a Multicenter Clinical Trial (ESPERANCE)

Polycystic Kidney, Type 1 Autosomal Dominant Disease

China
Regeneron Pharmaceuticals
Sanofi

Completed

A Study of Alirocumab in Participants With Autosomal Dominant Hypercholesterolemia (ADH) and Gain-of-Function Mutations (GOFm) of the Proprotein Convertase Subtilisin Kexin 9 (PCSK9) Gene or Loss-of-Function Mutations (LOFm) of the Apolipoprotein (Apo) B Gene

Hypercholesterolemia

France, United States
National Medical Research Center for Therapy and...
Moscow State University of Medicine and Dentistry

Recruiting

Genetic Testing and Motivational Counseling for FH (GENMOTIV-FH)

Medication Adherence | Adherence, Medication | Treatment Adherence | Familial Hypercholesterolemia | Motivational Interviewing | Adherence, Patient | Treatment Adherence and Compliance | Patient Compliance | Adherence | Hypercholesterolemia, Familial | Patient Adherence | Hypercholesterolemia, Autosomal Dominant and other conditions

Russian Federation
Assistance Publique - Hôpitaux de Paris

Completed

Biomarkers in Autosomal Dominant Cerebellar Ataxia (BIOSCA)

Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxia, Autosomal Recessive 3 | Episodic Ataxia, Type 7

France
Kastle Therapeutics, LLC
Ionis Pharmaceuticals, Inc.

Completed

Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia

Metabolic Diseases | Congenital Abnormalities | Infant, Newborn, Diseases | Genetic Diseases, Inborn | Dyslipidemias | Metabolism, Inborn Errors | Lipid Metabolism Disorders | Hypercholesterolemia | Hyperlipidemias | Hyperlipoproteinemias | Lipid Metabolism, Inborn Errors | Hyperlipoproteinemia Type II | Metabolic... and other conditions

United States
UK Kidney Association

Recruiting

National Registry of Rare Kidney Diseases (RaDaR)

Vasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditions

United Kingdom
Kastle Therapeutics, LLC
Ionis Pharmaceuticals, Inc.

Completed

An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia

Metabolic Diseases | Congenital Abnormalities | Infant, Newborn, Diseases | Genetic Diseases, Inborn | Dyslipidemias | Metabolism, Inborn Errors | Lipid Metabolism Disorders | Hypercholesterolemia | Hyperlipidemias | Hyperlipoproteinemias | Lipid Metabolism, Inborn Errors | Hyperlipoproteinemia Type II | Metabolic... and other conditions

United States, Canada, Brazil, Taiwan, Singapore, South Africa, United Kingdom
Kastle Therapeutics, LLC
Ionis Pharmaceuticals, Inc.

Completed

Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia (RADICHOL 1)

Metabolic Diseases | Congenital Abnormalities | Infant, Newborn, Diseases | Genetic Diseases, Inborn | Dyslipidemias | Metabolism, Inborn Errors | Lipid Metabolism Disorders | Hypercholesterolemia | Hyperlipidemias | Hyperlipoproteinemias | Lipid Metabolism, Inborn Errors | Hyperlipoproteinemia Type II | Metabolic... and other conditions

United States, Taiwan, Brazil, Canada, South Africa, United Kingdom, Singapore
Reata, a wholly owned subsidiary of Biogen

Completed

A Phase 2 Trial of the Safety and Efficacy of Bardoxolone Methyl in Patients With Rare Chronic Kidney Diseases - PHOENIX (PHOENIX)

Focal Segmental Glomerulosclerosis | IgA Nephropathy | Autosomal Dominant Polycystic Kidney | CKD Associated With Type 1 Diabetes

United States
Assistance Publique - Hôpitaux de Paris
Aventis Pharmaceuticals

Completed

Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type

EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT | CHROMOSOME 2q31.2 DELETION SYNDROME
Assistance Publique - Hôpitaux de Paris
Institute of Cardiometabolism and Nutrition, France

Completed

Study of Coronary Calcification in Subjects With Autosomal Dominant Familial Hypercholesterolemia Heterozygous (FH-CALC)

Familial Hypercholesterolemia - Heterozygous

France
Sanford Health
National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaborators

Recruiting

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)

Mitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditions

United States, Australia
RTI International
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Enrolling by invitation

Early Check: Expanded Screening in Newborns

Primary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditions

United States
Centre Hospitalier Universitaire de Liege
Sanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaborators

Recruiting

Baby Detect : Genomic Newborn Screening

Congenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditions

Belgium

Clinical Trials on Isolated Autosomal Dominant Hypomagnesaemia Glaudemans Type

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