Clinical Trials on Syndrome oculocérébral avec hypopigmentation

Total 45 results

Cairo University

Completed

Metabolic Syndrome in Early Onset Versus Late Onset Vitiligo

Metabolic Syndrome | Vitiligo

Egypt
University of Utah
Novartis

Terminated

Pilot Study of mTOR Inhibitor Therapy in Peutz-Jeghers Syndrome

Peutz-Jeghers Syndrome

United States
Peking Union Medical College Hospital
Cancer Institute and Hospital, Chinese Academy of Medical Sciences; Air Force...

Unknown

Efficacy of Rapamycin (Sirolimus) in the Treatment of Peutz-Jeghers Syndrome

Peutz-Jeghers Syndrome

China
Yiqi Du

Unknown

Study of Accurate Diagnosis and Treatment of Peutz-Jeghers Syndrome

Peutz-Jeghers Syndrome

China
Academisch Medisch Centrum - Universiteit van Amsterdam...
Erasmus Medical Center

Withdrawn

Study of Everolimus in the Treatment of Advanced Malignancies in Patients With Peutz-Jeghers Syndrome (EVAMP)

Neoplasm Metastasis | Neoplastic Processes | Peutz-Jeghers Syndrome

Netherlands
Haramaya Unversity

Completed

Poorly Differentiated Adenocarcinoma of the Jejunum in a Patient With Peutz-Jeghers Syndrome: A Case Report

Peutz-Jeghers Syndrome

Ethiopia
Shandong University

Not yet recruiting

Cold Snare Polypectomy for Small Bowel Polyps in Patients With Peutz-Jeghers Syndrome

Peutz-Jeghers Syndrome | Small Bowel Polyp

China
University of Pittsburgh

Completed

Hereditary Colorectal and Associated Tumor Registry Study

Lynch Syndrome | Hereditary Diffuse Gastric Cancer | FAP | Peutz-Jeghers Syndrome | Juvenile Polyposis Syndrome

United States
Children's Hospital Medical Center, Cincinnati

Recruiting

RASopathy Biorepository

Neurofibromatosis 1 | Noonan Syndrome | Legius Syndrome | Cardiofaciocutaneous Syndrome | Costello Syndrome | SYNGAP1-Related Intellectual Disability | DLG4 | RAS Mutation | Noonan Syndrome With Multiple Lentigines | Noonan Neurofibromatosis Syndrome | Smith-Kingsmore Syndrome | MTOR Gene Mutation | GATOR-1 Gene... and other conditions

United States
Royal Marsden NHS Foundation Trust

Recruiting

Inherited Cancer Early Diagnosis (ICED) Study (ICED)

Lynch Syndrome | Familial Adenomatous Polyposis | Hereditary Diffuse Gastric Cancer | Peutz-Jeghers Syndrome | Cowden Syndrome | Li Fraumeni Syndrome | MutYH-associated Polyposis | SMAD4 Gene Mutation

United Kingdom
Johns Hopkins University
National Cancer Institute (NCI); Lustgarten Foundation

Completed

Cancer of the Pancreas Screening Study (CAPS 3) (CAPS 3)

Pancreatic Neoplasm | Peutz-Jeghers Syndrome

United States
National Center for Research Resources (NCRR)
Baylor College of Medicine

Completed

Phase II Study of the Effect of Leuprolide Acetate and Spironolactone on Insulin Resistance in Hyperandrogenic Women With Polycystic Ovarian Disease or Hyperandrogenism Insulin Resistance Acanthosis Nigricans Syndrome

Polycystic Ovary Syndrome | Acanthosis Nigricans
Institut National de la Santé Et de la Recherche...

Completed

Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes (NOLEO)

Noonan Syndrome | LEOPARD Syndrome

France
Johns Hopkins University
National Cancer Institute (NCI); National Institutes of Health (NIH); ChiRhoClin...

Recruiting

The Cancer of the Pancreas Screening-5 CAPS5)Study (CAPS5)

Lynch Syndrome | Pancreas Cancer | Gene Mutation | Peutz-Jeghers Syndrome (PJS) | Germline Mutation Carrier

United States
National Human Genome Research Institute (NHGRI)

Recruiting

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome (HPS)

United States
University of Arkansas

Withdrawn

Pancreatic Cancer Screening of High-Risk Individuals in Arkansas

Pancreatic Neoplasms | Colorectal Neoplasms, Hereditary Nonpolyposis | BRCA1 Gene Mutation | BRCA2 Gene Mutation | Hereditary Pancreatitis | Ataxia Telangiectasia | Peutz-Jegher's Syndrome | Familial Atypical Mole-Malignant Melanoma Syndrome

United States
Associazione Italiana per lo Studio del Pancreas

Recruiting

Registry of Subjects at Risk of Pancreatic Cancer (IRFARPC)

Lynch Syndrome | BRCA1 Mutation | BRCA2 Mutation | Familial Pancreatic Cancer | Hereditary Pancreatitis | Peutz-Jeghers Syndrome | FAMMM - Familial Atypical Mole Malignant Melanoma Syndrome

Italy
Vanderbilt University
National Heart, Lung, and Blood Institute (NHLBI); University of South Florida and other collaborators

Completed

A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Hermansky Pudlak Syndrome

United States
Jesse Roman
Genentech, Inc.

Unknown

Efficacy and Safety of Pirfenidone Treatment in HPS-ILD (PEARL)

Interstitial Lung Disease | Hermansky Pudlak Syndrome

United States, Puerto Rico
National Human Genome Research Institute (NHGRI)

Terminated

Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Pulmonary Fibrosis | Metabolic Disease | Oculocutaneous Albinism | Hermansky-Pudlak Syndrome (HPS) | Platelet Storage Pool Deficiency

United States
H. Lee Moffitt Cancer Center and Research Institute

Recruiting

The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics

Lynch Syndrome | Pancreatic Ductal Adenocarcinoma | Chronic Pancreatitis | Pancreatic Cyst | Ataxia Telangiectasia | FAP | Peutz-Jeghers Syndrome | PALB2 Gene Mutation | BRCA Mutation | Fatty Pancreas | Genetic Pancreatic Cancer | Genetic Pancreatitis | Familial Atypical Multiple Mole-Melanoma

United States
Russian Academy of Medical Sciences
Blokhin's Russian Cancer Research Center

Recruiting

Atypical MOLes and Melanoma Early Detection Study (MoleMed) (MoleMed)

Melanoma | Nevus | Nevus, Pigmented | Melanoma (Skin) | Mucosal Melanoma | Moles | Dysplastic Nevus Syndrome | Nevus, Blue | Nevus, Spitz | Nevi, Spindle Cell | Nevi, Dysplastic | Mucosal Melanosis

Russian Federation
Texas Tech University
National Cancer Institute (NCI); American Cancer Society, Inc.

Completed

Selenium in the Treatment of Arsenic Toxicity and Cancers (SETAC)

Arsenical Melanosis | Arsenical Keratosis | Arsenical Cancers | Arsenicosis | Arsenic Exposure | Arsenic Toxicity | Arsenic Poisoning

Bangladesh
University of Colorado, Denver
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Recruiting

Tofacitinib for Immune Skin Conditions in Down Syndrome

Psoriasis | Down Syndrome | Vitiligo | Hidradenitis Suppurativa | Alopecia Areata | Atopic Dermatitis / Eczema

United States
National Human Genome Research Institute (NHGRI)

Recruiting

Analysis of Specimens From Individuals With Pulmonary Fibrosis

Pulmonary Fibrosis | Healthy Volunteers | Hermansky-Pudlak Syndrome (HPS)

United States
White Plains Hospital

Recruiting

Pancreatic Cancer Early Detection Program (PCEDP)

Pancreatic Cancer | Pancreatic Adenocarcinoma | Lynch Syndrome | Pancreas Cancer | HNPCC | Familial Pancreatic Cancer | Hereditary Pancreatitis | BRCA 1/2 | FAMMM | Familial Atypical Multiple Mole Melanoma | Peutz Jeghers Syndrome

United States
National Institute of Allergy and Infectious Diseases...

Withdrawn

Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome

Colitis | Cytokines | Hermanski-Pudlak Syndrome | Lymphocytes | Drug Evaluation

United States
Eunice Kennedy Shriver National Institute of Child...

Completed

Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex

Pituitary Adenoma | Cushing's Syndrome | Carney Complex | Primary Pigmented Nodular Adrenocortical Disease | Peutz-Jeghers Syndrome

United States
Maastricht University Medical Center

Recruiting

Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling

Quality of Life | Tuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Birt-Hogg-Dube Syndrome | Palmoplantar Keratoses

Netherlands
Maastricht University Medical Center

Enrolling by invitation

Reproductive Options in Inherited Skin Diseases (REPRO-ISD)

Tuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Xeroderma Pigmentosum | Birt-Hogg-Dube Syndrome | Palmoplantar Keratoses

Netherlands
William Gahl, M.D.
National Human Genome Research Institute (NHGRI)

Completed

Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome

Pulmonary Fibrosis | Inborn Errors of Metabolism | Albinism | Oculocutaneous Albinism | Platelet Storage Pool Deficiency

United States
Ohio State University Comprehensive Cancer Center

Completed

Single Incision Laparoscopic Surgery in Treating Patients With Colorectal Disease

Crohn Disease | Familial Adenomatous Polyposis | Stage IIIA Colon Cancer | Stage IIIB Colon Cancer | Stage IIIC Colon Cancer | Recurrent Colon Cancer | Stage I Colon Cancer | Stage IIA Colon Cancer | Stage IIB Colon Cancer | Stage IIC Colon Cancer | Adenomatous Polyp | Hereditary Intestinal Polyposis Syndrome

United States
St. Jude Children's Research Hospital

Recruiting

Familial Investigations of Childhood Cancer Predisposition (SJFAMILY)

Pancreatic Cancer | Hodgkin Lymphoma | Lynch Syndrome | Tuberous Sclerosis | Fanconi Anemia | AML | Non Hodgkin Lymphoma | Familial Adenomatous Polyposis | Acute Leukemia | Nevoid Basal Cell Carcinoma Syndrome | Neurofibromatosis Type 1 | Neuroblastoma | Retinoblastoma | MDS | Rhabdomyosarcoma | Von Hippel-Lindau Disease | Adrenocortical Carcinoma and other conditions

United States
Aristotle University Of Thessaloniki

Terminated

Use of Electrical Impedance Spectroscopy (EIS) for Early Diagnosis of Skin Damage (DermaSense)

Carcinosarcoma | Melanoma (Skin) | Basal Cell Carcinoma | Squamous Cell Carcinoma | Seborrheic Keratosis | Dysplastic Nevus Syndrome | Lentigo Maligna | Lichen Planus-Like Keratosis

Greece
Central Hospital, Nancy, France

Enrolling by invitation

Additional Autoimmune Diseases With Type 1 Diabetes in Pediatrics at Diabetes Diagnosis and During Follow-up (AADT1D)

Autoimmune Diseases | Type 1 Diabetes | Graves Disease | Celiac Disease | Vitiligo | Hashimoto Disease | Addison Disease

France
Mayo Clinic

Completed

Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity

Multiple Sclerosis | Rheumatoid Arthritis | Systemic Lupus Erythematosus | Uveitis | Vasculitis | Psoriasis | Graves Disease | Systemic Sclerosis | Celiac Disease | Crohn Disease | Type 1 Diabetes Mellitus | Myasthenia Gravis | Ulcerative Colitis | Dermatomyositis | Polymyositis | Vitiligo | Hepatitis, Autoimmune | Polymyalgia... and other conditions

United States
National Human Genome Research Institute (NHGRI)

Completed

Clinical and Pathophysiological Investigations Into Erdheim Chester Disease

Cancer | Myelofibrosis | Pulmonary Fibrosis | Gaucher Disease | Hermansky-Pudlak Syndrome (HPS)

United States
Jordan Collaborating Cardiology Group

Recruiting

Clinical Association Between Obstructive Sleep Apnea, Facial Pigmentation, and Vasovagal Symptoms. (VasOSA)

Smoking | Obstructive Sleep Apnea | Acanthosis Nigricans | Vasovagal Syncope

Jordan
Memorial Sloan Kettering Cancer Center

Recruiting

Neurocutaneous Melanocytosis Registry

Cutaneous Melanocytic Neoplasm | Large Cutaneous Melanocytic Nevi | Neurocutaneous Melanocytosis

United States
Institut National de la Santé Et de la Recherche...

Recruiting

FARD (RaDiCo Cohort) (RaDiCo-FARD) (FARD)

Neurofibromatosis Type 1 | Ichthyosis | Ectodermal Dysplasia | Albinism | Pemphigus | Mucous Membrane Pemphigoid | Inherited Epidermolysis Bullosa | Palmoplantar Keratoderma | Incontinentia Pigmenti

France
Sanguine Biosciences

Recruiting

A Single-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives

Heart Diseases | Stroke | Lymphoma | Multiple Sclerosis | Kidney Diseases | Diabetes | Leukemia | Age-Related Macular Degeneration | Cancer | Arthritis | Schizophrenia | Thyroid Diseases | Parkinson Disease | Hepatitis | Vasculitis | Psoriasis | Asthma | Amyloidosis | Fibromyalgia | Graves Disease | Alzheimer Disease | Celiac Disease | Cirr... and other conditions

United States
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
University Hospital, Bordeaux

Recruiting

Functional Tests to Resolve Unsolved Rare Diseases. Rares. (RID)

Intellectual Disability | Cystic Fibrosis | Neurodegeneration With Brain Iron Accumulation (NBIA) | Congenital Heart Defect | Albinism | Rubinstein-Taybi Syndrome | Periventricular Nodular Heterotopia

France
Momentum Data
Pfizer; University of Oxford; University of Surrey

Completed

The Epidemiology, Management, and the Associated Burden of Related Conditions in Alopecia Areata

Multiple Sclerosis | Pneumonia | Rheumatoid Arthritis | Systemic Lupus Erythematosus | Anxiety Disorders | Psoriasis | Asthma | Type 1 Diabetes | Graves Disease | Celiac Disease | Allergic Rhinitis | Urinary Tract Infections | Crohn Disease | Influenza | Ulcerative Colitis | Herpes Zoster | Herpes Simplex | Atopic Dermatitis | V... and other conditions

United Kingdom
Faculty Hospital Kralovske Vinohrady

Completed

The Epidemiology, Management and Comorbidities in Alopecia Areata in Czech Republic

Infections | Multiple Sclerosis | Autoimmune Diseases | Diabetes Mellitus, Type 1 | Rheumatoid Arthritis | Vaccine Reaction | Inflammatory Bowel Diseases | Psoriasis | Crohn Disease | Ulcerative Colitis | Down Syndrome | Atopic Dermatitis | Vitiligo | Alopecia Areata | COVID-19 Pandemic | Ankylosing Spondylitis | Lupus Erythematosus and other conditions

Czechia

Clinical Trials on Syndrome oculocérébral avec hypopigmentation

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Saint Lucia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations