Not applicableStudy completedNCT02368340What this trial is testingA Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary FibrosisWho this might be right forHermansky Pudlak Syndrome Vanderbilt University 55
Not applicableActive Not RecruitingNCT01652092What this trial is testingAllogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune DeficienciesWho this might be right forSCIDOmenn's SyndromeReticular Dysgenesis+11 more Masonic Cancer Center, University of Minnesota 57
Testing effectiveness (Phase 2)Study completedNCT00176865What this trial is testingStem Cell Transplant for Immunologic or Histiocytic DisordersWho this might be right forHemophagocytic LymphohistiocytosisX-Linked Lymphoproliferative DisordersChediak-Higashi Syndrome+3 more Masonic Cancer Center, University of Minnesota 19
Not applicableStudy completedNCT00001153What this trial is testingVisual Function and Ocular Pigmentation in AlbinismWho this might be right forAlbinismAlbinism, OcularAlbinism, Oculocutaneous National Eye Institute (NEI) 130
Not applicableStudy completedNCT05748587What this trial is testingIron, Alpha-Synuclein, and Lymphocyte-activation Gene-3 in Ischemic StrokeWho this might be right forBrain Ischemia Aswan University Hospital 48
Not applicableStudy completedNCT00086476What this trial is testingStudy of Megakaryocytes From Patients With Abnormal Platelet VesiclesWho this might be right forBlood Coagulation Disorders National Human Genome Research Institute (NHGRI) 3
Not applicableLooking for participantsNCT00005917What this trial is testingStudy of Chediak-Higashi SyndromeWho this might be right forChediak-Higashi Syndrome National Human Genome Research Institute (NHGRI) 60
Post-approval studies (Phase 4)Study completedNCT01735955What this trial is testingStudy to Allow Access to Nilotinib for Patients Who Are on Nilotinib Treatment in a Novartis-sponsored StudyWho this might be right forChronic Myelogenous Leukemia (CML)Metastatic Gastrointestinal Stromal Tumors (GIST)Acute Lymphoblastic Leukemia (ALL)+1 more Novartis Pharmaceuticals 57
Testing effectiveness (Phase 2)Study completedNCT00001596What this trial is testingOral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak SyndromeWho this might be right forAlbinismInborn Errors of MetabolismOculocutaneous Albinism+2 more William Gahl, M.D. 35
Testing effectiveness (Phase 2)Study completedNCT00237185What this trial is testingThe Efficacy and Safety of Imatinib Mesylate in Patients With Unresectable or Metastatic Gastrointestinal Stromal Tumors Expressing C-kit GeneWho this might be right forUnresectable or Metastatic Malignant Gastrointestinal Stromal Tumor (GIST) Novartis Pharmaceuticals 148
Post-approval studies (Phase 4)UnknownNCT01640678What this trial is testingAutologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism PatientsWho this might be right forPiebaldismSegmental Vitiligo Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) 10
Not applicableLooking for participantsNCT00001456What this trial is testingClinical and Basic Investigations Into Hermansky-Pudlak SyndromeWho this might be right forHermansky-Pudlak Syndrome (HPS) National Human Genome Research Institute (NHGRI) 600
Not applicableUnknownNCT05696912What this trial is testingFunctional Tests to Resolve Unsolved Rare Diseases. Rares.Who this might be right forIntellectual DisabilityRubinstein-Taybi SyndromeCystic Fibrosis+4 more University Hospital, Bordeaux 50
Early research (Phase 1)Study completedNCT01917708What this trial is testingBone Marrow Transplant With Abatacept for Non-Malignant DiseasesWho this might be right forHurler SyndromeFanconi AnemiaGlanzmann Thrombasthenia+12 more Emory University 10
Testing effectiveness (Phase 2)Looking for participantsNCT01962415What this trial is testingReduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCTWho this might be right forPrimary Immunodeficiency (PID)Congenital Bone Marrow Failure SyndromesInherited Metabolic Disorders (IMD)+4 more Paul Szabolcs 100
Testing effectiveness (Phase 2)Study completedNCT01838655What this trial is testingNitisinone for Type 1B Oculocutaneous AlbinismWho this might be right forAlbinismVision Loss National Eye Institute (NEI) 5
Not applicableNot Yet RecruitingNCT07400913What this trial is testingImplementation of Long-read Sequencing for the Diagnosis of Rare Diseases.Who this might be right forRare DiseasesAlbinismIntellectual Disability University Hospital, Bordeaux 150
Not applicableActive Not RecruitingNCT03655223What this trial is testingEarly Check: Expanded Screening in NewbornsWho this might be right forSpinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more RTI International 30,000
Large-scale testing (Phase 3)Study completedNCT00814073What this trial is testingMasitinib in Severe Indolent or Smoldering Systemic MastocytosisWho this might be right forIndolent Systemic Mastocytosis AB Science 135
Not applicableStudy completedNCT00808106What this trial is testingClinical, Cellular, and Molecular Investigation Into Oculocutaneous AlbinismWho this might be right forOculocutaneous Albinism National Human Genome Research Institute (NHGRI) 206