Clinical Trials on Autosomal Recessive Stickler Syndrome

Autosomal Recessive Disorder (Genetic Carriers of PKU)

Canada

Autosomal Recessive Disorder (Genetic Carriers of PKU)

Canada

Parkinson Disease 6, Early-Onset | Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human | Parkinson Disease Autosomal Recessive, Early Onset | Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1

United States

Autosomal Recessive Polycystic Kidney (ARPKD)

United States, United Kingdom, Belgium, Poland, France, Germany, Italy

Aneuploidy | Autosomal Recessive Disorder

United States

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

United States, Belgium, Spain, Germany, United Kingdom, Poland

Polycystic Kidney, Autosomal Recessive

United States

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

Bethlem Myopathy | Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2 | Ullrich Congenital Muscular Dystrophy 1, Autosomal Recessive | Ullrich Congenital Muscular Dystrophy 1, Autosomal Dominant | Bethlem Myopathy 1, Autosomal Recessive | UCMD | BTHLM1

United Kingdom

Glucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1

United States

Glucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect | GLUT1DS1

United States

Autosomal Recessive Cerebellar Ataxia

France

Inclusion Body Myositis, Sporadic | Inclusion Body Myopathy, Autosomal-recessive | Inclusion Body Myopathy, Autosomal-dominant | Congenital Cataracts, Facial Dysmorphism, And Neuropathy

Germany

Autosomal-dominant Hyper-IgE Syndrome

United States

Autosomal Recessive Disorder | X-Linked Genetic Diseases

Australia

Molybdenum Cofactor Deficiency (MoCD) | Rare Autosomal Recessive Disorder | Deficiency of Activity of Molybdenum-dependent Enzymes (Sulfite Oxidase [SOX], Xanthine Dehydrogenase, and Aldehyde Oxidase)

United States

Common Variable Immunodeficiency | X-linked Agammaglobulinemia | Autosomal Recessive Agammaglobulinemia

Germany, United Kingdom, France, Italy, Poland, Romania, Spain, Sweden, Switzerland

Glucose Metabolism Disorders | Epilepsy | Glucose Transporter Type 1 Deficiency Syndrome | Glut1 Deficiency Syndrome 1 | Glut1 Deficiency Syndrome 1, Autosomal Recessive | Glucose Transporter Protein Type 1 Deficiency Syndrome | Glucose Transport Defect

United States

Nephronophthisis | Joubert Syndrome | Bardet Biedl Syndrome | Autosomal Recessive Polycystic Kidney Disease | Congenital Hepatic Fibrosis | Hepato/Renal Fibrocystic Disease | Meckel-Gruber Syndrome | Caroli Syndrome | Oro-Facial-Digital Syndrome Type I | Glomerulocystic Kidney Disease

United States

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

France

Autosomal Recessive Ichthyosis

United States

Stargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)

United States

Stargardt Disease | Stargardt Macular Degeneration | Stargardt Macular Dystrophy | Autosomal Recessive Stargardt Disease 1 (ABCA4-related)

United States

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

Chronic Granulomatous Disease | p47 | Autosomal Recessive

United States

Excessive Lateral Pressure Syndrome

Excessive Lateral Pressure Syndrome

Netherton Syndrome | Ichthyosis | Lamellar Ichthyosis | Autosomal Recessive Congenital Ichthyosis | Congenital Ichthyosiform Erythroderma | Epidermolytic Ichthyosis

United States

Myopathy | Myopathy; Hereditary | Myopathies, Nemaline | TNNT1-associated Myopathy | Infantile-onset Nemaline Rod Myopathy | Myopathy, Rod | Amish Nemaline Myopathy | Nemaline Myopathy 5 | NEM5 | Genetic Muscle Disease | Recessive Hereditary Disorder (Autosomal) | ANM

United States

TGM-1 Related Autosomal Recessive Congenital Ichthyosis

United States

Autosomal Recessive Congenital Ichthyosis | Epidermolytic Ichthyosis

France

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

Sleep Apnea Syndromes

Italy

EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT | CHROMOSOME 2q31.2 DELETION SYNDROME

Narcolepsy | Excessive Daytime Sleepiness | Obstructive Sleep Apnea/Hypopnea Syndrome (OSAHS)

United States

Sleep Apnea, Obstructive | Hypopnea Syndrome | Excessive Daytime Sleepiness

Menopausal Syndrome | Lipid Depletion | Excessive Physical Exercise, Unspecified

Healthy | Autosomal Dominant Polycystic Kidney | Atypical Hemolytic Uremic Syndrome | Membranoproliferative Glomerulonephritis

Italy

Fanconi Anemia | Autosomal or Sex Linked Recessive Genetic Disease | Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases. | Hematopoiesis Maintainance.

China

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Canada

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Canada

Severe Combined Immunodeficiency | Adenosine Deaminase Deficiency | Immune System Disorder | Autosomal Recessive Disorder | Purine-Nucleoside Phosphorylase Deficiency | Severe Combined Immunodeficiency With Absence of T and B Cells | X-Linked Severe Combined Immunodeficiency

United States

Hemophilia A | Hemophilia B | Cystic Fibrosis | Sickle Cell Disease | Muscular Dystrophy, Duchenne | Fragile X Syndrome | Huntington Disease | Myotonic Dystrophy | Autosomal Recessive Polycystic Kidney Disease | Neurofibromatosis-Noonan Syndrome | Muscular Dystrophy, Becker | Invasive PreNatal Diagnosis in a... and other conditions

France

Obstructive Sleep Apnea | Narcolepsy | Postpartum | Excessive Sleepiness | Excessive Daytime Somnolence

United States

Narcolepsy | Excessive Daytime Sleepiness | Chronic Shift Work Sleep Disorder | Obstructive Sleep Apnea/Hypopnea Syndrome

United States, Australia, Canada, France, Puerto Rico, Germany, Russian Federation

Major Sickle Cell Syndrome of Type SS or Sβ Thalassemia

France

Chronic Kidney Diseases | Autosomal Dominant Polycystic Kidney | Alport Syndrome

United States, France, Australia, Japan, Spain, Puerto Rico

Sickle Cell Anemia | Sickle Beta Thalassemia | Sickle Cell Thalassemia | Sickle Beta Zero Thalassemia | Sickle Cell Pain | Hbss | Hbsc | Sickle Cell Syndrome Variant

United States

Healthy Subjects | Kleine-Levin Syndrome

France

Anxiety Disorders | Familial Dysautonomia | Dysthymia | Paroxysmal Hypertension | Autosomal Recessive Disease

United States