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Results for “Rare Genetic Disease”

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Showing 20 of 0 results

Not applicableStudy completedNCT01880983
What this trial is testing

Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))

Who this might be right for
Erythropoietic Protoporphyria (EPP)
University of Alabama at Birmingham 150
Not applicableUnknownNCT00004341
What this trial is testing

Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

Who this might be right for
X-Linked AgammaglobulinemiaX-Linked Hyper IgM SyndromeWiskott-Aldrich Syndrome+1 more
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Not applicableStudy completedNCT00004695
What this trial is testing

Randomized Study of Polyethylene-Glycol-Conjugated Interleukin 2 in Patients With Common Variable Immunodeficiency

Who this might be right for
Common Variable Immunodeficiency
Icahn School of Medicine at Mount Sinai 48
Not applicableStudy completedNCT00004350
What this trial is testing

Evaluation of Fanconi Syndrome and Cystinosis

Who this might be right for
CystinosisFanconi Syndrome
National Center for Research Resources (NCRR) 12
Not applicableStudy completedNCT05712564
What this trial is testing

Fatigue, Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Ehlers-Danlos Syndrome: Survey

Who this might be right for
Rare DiseasesFatigueInsomnia+1 more
IRCCS Policlinico S. Donato 282
Not applicableLooking for participantsNCT06833489
What this trial is testing

Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases

Who this might be right for
Rare Genetic Muscle DiseasesMuscular Dystrophy, DuchenneMuscular Dystrophy, Becker+2 more
Assistance Publique Hopitaux De Marseille 50
Not applicableStudy completedNCT00004648
What this trial is testing

Studies of Hereditary Hemorrhagic Telangiectasia

Who this might be right for
Telangiectasia, Hereditary Hemorrhagic
National Center for Research Resources (NCRR) 65
Large-scale testing (Phase 3)Ended earlyNCT02505087
What this trial is testing

Pharmacological Treatment of a Rare Genetic Disease: N-acetylcysteine in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM)

Who this might be right for
Selenoprotein N-related Myopathy
Assistance Publique - Hôpitaux de Paris 7
Post-approval studies (Phase 4)Study completedNCT00004338
What this trial is testing

Study of Zinc for Wilson Disease

Who this might be right for
Wilson Disease
National Center for Research Resources (NCRR) 300
Not applicableStudy completedNCT02814747
What this trial is testing

Evaluate and Understand Preferences and Representations in Families of Patients With Regard to High-throughput Sequencing Technology for Diagnostic Purposes

Who this might be right for
Rare Diseases
Centre Hospitalier Universitaire Dijon 530
Not applicableStudy completedNCT05245123
What this trial is testing

Psychosocial Situation of Children With Rare Solid Abdominal Tumors and Their Families

Who this might be right for
NeuroblastomaNephroblastomaHepatoblastoma
Universitätsklinikum Hamburg-Eppendorf 100
Not applicableStudy completedNCT00005103
What this trial is testing

Study of the Pathogenesis of Porphyria Cutanea Tarda

Who this might be right for
Porphyria Cutanea Tarda
National Center for Research Resources (NCRR) 120
Testing effectiveness (Phase 2)Study completedNCT00004488
What this trial is testing

Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease

Who this might be right for
Gaucher's DiseaseOsteopenia
Children's Hospital Medical Center, Cincinnati 82
Testing effectiveness (Phase 2)Study completedNCT00004314
What this trial is testing

Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease

Who this might be right for
Lesch-Nyhan Syndrome
National Center for Research Resources (NCRR) 2
Not applicableLooking for participantsNCT05810181
What this trial is testing

Gene Therapy Communication: Use of a Needs Assessment to Drive Decision-AIDS for Gene Therapy for Rare Diseases (GENETX)

Who this might be right for
Sickle Cell Disease
St. Jude Children's Research Hospital 145
Not applicableLooking for participantsNCT06250595
What this trial is testing

European Rare Blood Disorders Platform (ENROL)

Who this might be right for
AnemiaBone Marrow FailureBleeding Disorder+9 more
Hospital Universitari Vall d'Hebron Research Institute 37,090
Not applicableStudy completedNCT03855631
What this trial is testing

Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders

Who this might be right for
Kabuki Syndrome 1
University Hospital, Montpellier 8
Not applicableStudy completedNCT02124395
What this trial is testing

Health-related Quality of Life in Rare Kidney Stone

Who this might be right for
Primary HyperoxaluriaCystinuriaAdenine Phosphoribosyl Transferase Deficiency+1 more
NYU Langone Health 365
Not applicableLooking for participantsNCT07336394
What this trial is testing

Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques

Who this might be right for
Danon DiseaseFabry DiseaseCardiac Amyloidosis+4 more
Chinese Academy of Medical Sciences, Fuwai Hospital 1,000
Not applicableLooking for participantsNCT04880356
What this trial is testing

Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.

Who this might be right for
Inherited DiseaseRare DiseasesMetabolic Disease+3 more
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 100
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