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Results for “Albinism, Ocular”

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Showing 20 of 0 results

Not applicableStudy completedNCT05687474
What this trial is testing

Baby Detect : Genomic Newborn Screening

Who this might be right for
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more
Centre Hospitalier Universitaire de Liege 6,824
Post-approval studies (Phase 4)Study completedNCT01735955
What this trial is testing

Study to Allow Access to Nilotinib for Patients Who Are on Nilotinib Treatment in a Novartis-sponsored Study

Who this might be right for
Chronic Myelogenous Leukemia (CML)Metastatic Gastrointestinal Stromal Tumors (GIST)Acute Lymphoblastic Leukemia (ALL)+1 more
Novartis Pharmaceuticals 57
Testing effectiveness (Phase 2)Study completedNCT00237185
What this trial is testing

The Efficacy and Safety of Imatinib Mesylate in Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors Expressing C-kit Gene

Who this might be right for
Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumor (GIST)
Novartis Pharmaceuticals 148
Not applicableLooking for participantsNCT06491615
What this trial is testing

National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases

Who this might be right for
Inherited Ophthalmic DiseasesHypopigmentation DisorderCorneal Dystrophy+4 more
National Eye Institute (NEI) 1,000
Not applicableActive Not RecruitingNCT03655223
What this trial is testing

Early Check: Expanded Screening in Newborns

Who this might be right for
Spinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more
RTI International 30,000
Very early researchLooking for participantsNCT07313618
What this trial is testing

Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)

Who this might be right for
Oculocutaneous Albinism (OCA)
West China Hospital 18
Testing effectiveness (Phase 2)Study completedNCT00001596
What this trial is testing

Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome

Who this might be right for
AlbinismInborn Errors of MetabolismOculocutaneous Albinism+2 more
William Gahl, M.D. 35
Testing effectiveness (Phase 2)Study completedNCT00730314
What this trial is testing

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells

Who this might be right for
Sickle Cell DiseaseThalassemiaAnemia+9 more
Children's Hospital Los Angeles 25
Not applicableStudy completedNCT00086476
What this trial is testing

Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles

Who this might be right for
Blood Coagulation Disorders
National Human Genome Research Institute (NHGRI) 3
Testing effectiveness (Phase 2)UnknownNCT04193592
What this trial is testing

Efficacy and Safety of Pirfenidone Treatment in HPS-ILD

Who this might be right for
Hermansky Pudlak SyndromeInterstitial Lung Disease
Jesse Roman 50
Not applicableStudy completedNCT05028894
What this trial is testing

23andMe IPF Research Study

Who this might be right for
Idiopathic Pulmonary Fibrosis
23andMe, Inc. 690
Not applicableStudy completedNCT04495218
What this trial is testing

NGS Panel of Incomplete Forms of Ocular Albinism

Who this might be right for
Albinism, Ocular
University Hospital, Bordeaux 53
Not applicableStudy completedNCT00336076
What this trial is testing

Molecular Mechanisms and Diagnosis of Mastocytosis

Who this might be right for
Mastocytosis
University of Michigan 136
Not applicableEnrolling By InvitationNCT06330324
What this trial is testing

Reproductive Options in Inherited Skin Diseases

Who this might be right for
IchthyosisPalmoplantar KeratosesEpidermolysis Bullosa+7 more
Maastricht University Medical Center 650
Not applicableLooking for participantsNCT06138509
What this trial is testing

Peripheral Serotonin and Albinism

Who this might be right for
Oculocutaneous Albinism
Assistance Publique - Hôpitaux de Paris 160
Not applicableNot Yet RecruitingNCT07400913
What this trial is testing

Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.

Who this might be right for
Rare DiseasesAlbinismIntellectual Disability
University Hospital, Bordeaux 150
Testing effectiveness (Phase 2)Ended earlyNCT00467831
What this trial is testing

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

Who this might be right for
Hermansky-Pudlak Syndrome (HPS)Pulmonary FibrosisOculocutaneous Albinism+2 more
National Human Genome Research Institute (NHGRI) 3
Early research (Phase 1)UnknownNCT03351400
What this trial is testing

Japanese OMI Treatment With Kit-positive Cells for Enhanced Regeneration

Who this might be right for
Chronic Heart FailureOld Myocardial Infarction
Sakakibara Heart Institute 6
Testing effectiveness (Phase 2)Looking for participantsNCT07559864
What this trial is testing

Comparing Regorafenib Combined With Envafolimab to Physician's Choice in Patients With Metastatic Gastrointestinal Stromal Tumors Harboring KIT Exon 17 Mutations Refractory to Standard Treatment

Who this might be right for
GIST - Gastrointestinal Stromal TumorKIT Gene Mutation
Jian Li 100
Not applicableUnknownNCT04281732
What this trial is testing

Visual Performance Measures in a Virtual Reality Environment for Assessing Clinical Trial Outcomes in Those With Severely Reduced Vision

Who this might be right for
Low VisionRetinitis PigmentosaStargardt Disease 1+3 more
Queen's University, Belfast 20
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