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Results for “Congenital, Familial and Genetic Disorders”

962 trials

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Showing 20 of 962 results

Not applicableStudy completedNCT04526457
What this trial is testing

Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia

Who this might be right for
Hypercholesterolemia, Familial
University of Pennsylvania 240
Not applicableActive Not RecruitingNCT04946409
What this trial is testing

Burden of Disease and Functional Impairment in XLH

Who this might be right for
X Linked Hypophosphatemia
Wuerzburg University Hospital 60
Not applicableLooking for participantsNCT06147414
What this trial is testing

Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Who this might be right for
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, IncludingSickle Cell DiseaseCystic Fibrosis+12 more
Assistance Publique - Hôpitaux de Paris 550
Testing effectiveness (Phase 2)UnknownNCT04455581
What this trial is testing

Determine the Safety, Tolerability, and Efficacy of SHR-1209 in Patients With Familial Hypercholesterolemia

Who this might be right for
Familial Hypercholesterolemia
Jiangsu HengRui Medicine Co., Ltd. 8
Not applicableUnknownNCT03965000
What this trial is testing

Human Solute Carrier Family 5 Member 2 (SLC5A2) Deficiency and the Glucagon-Incretin Axis

Who this might be right for
Familial Renal GlucosuriaDiabetes MellitusCardiovascular Diseases
Medical University Innsbruck 10
Not applicableLooking for participantsNCT04370899
What this trial is testing

Early Detection of Familial Hypercholesterolemia in Children

Who this might be right for
Familial HypercholesterolemiaFamilial Hypercholesterolemia - HeterozygousFamilial Hypercholesterolemia - Homozygous
Institut Investigacio Sanitaria Pere Virgili 400
Not applicableStudy completedNCT02876939
What this trial is testing

Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy

Who this might be right for
Atunomic Neuropathy
NYU Langone Health 16
Early research (Phase 1)Study completedNCT02160106
What this trial is testing

First in Human Dose Escalation Study of Vactosertib (TEW-7197) in Subjects With Advanced Stage Solid Tumors

Who this might be right for
Advanced Stage Solid Tumors
MedPacto, Inc. 35
Not applicableStudy completedNCT03135236
What this trial is testing

Parents as the Primary Sexuality Educators for Their Young Adults With Down Syndrome

Who this might be right for
Down SyndromeIntellectual DisabilitySexuality+1 more
Wake Forest University Health Sciences 13
Early research (Phase 1)UnknownNCT00473187
What this trial is testing

Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets

Who this might be right for
Hypophosphatemic RicketsGrowth DisordersSomatropin Therapy
University of Rostock
Post-approval studies (Phase 4)Study completedNCT04828993
What this trial is testing

The Effect Of Tafamidis Meglumine In Transthyretin Amyloid Polyneuropathy Patients

Who this might be right for
Transthyretin Amyloid Polyneuropathy (ATTR-PN)
Pfizer 15
Testing effectiveness (Phase 2)Looking for participantsNCT07489209
What this trial is testing

A Dose-exploration Study of EDP167 in HoFH

Who this might be right for
Homozygous Familial Hypercholesterolemia (HoFH)
Eddingpharm (Zhuhai) Co., Ltd. 20
Not applicableLooking for participantsNCT06933212
What this trial is testing

Effect of the Mediterranean Diet in Patients Affected by CADASIL and Cerebral Amyloid Angiopathy.

Who this might be right for
Cerebral Amyloid AngiopathyCAA - Cerebral Amyloid Angiopathy
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 86
Not applicableUnknownNCT03984877
What this trial is testing

Impact of Amyloidosis on TAVI Patients

Who this might be right for
Valve Stenoses, AorticAmyloidosis Cardiac
Javier López Pais 320
Not applicableStudy completedNCT05286632
What this trial is testing

KidneYou - Innovative Digital Therapy

Who this might be right for
Chronic Kidney DiseasesDiabetesArterial Hypertension+10 more
Advice Pharma Group srl 210
Not applicableLooking for participantsNCT06813443
What this trial is testing

Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation

Who this might be right for
CardiomyopathiesAmyloidosis CardiacFabry Disease+14 more
IRCCS Azienda Ospedaliero-Universitaria di Bologna 700
Not applicableUnknownNCT04695184
What this trial is testing

Subjective Near-infrared Fluorescence Guidance in Perfusion Assessment of Ileal Pouch Formation and Ileal-pouch-anal Anastomosis

Who this might be right for
Ulcerative ColitisColorectal CancerCrohn Disease+3 more
Charite University, Berlin, Germany 50
Large-scale testing (Phase 3)Study completedNCT03860935
What this trial is testing

Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy

Who this might be right for
AmyloidosisAmyloid CardiomyopathyTransthyretin Amyloidosis+2 more
Eidos Therapeutics, a BridgeBio company 632
Early research (Phase 1)Study completedNCT01075906
What this trial is testing

Pharmacokinetics Study of Colchicine in Familial Mediterranean Fever (FMF) Patients

Who this might be right for
Familial Mediterranean Fever
Mutual Pharmaceutical Company, Inc. 75
Not applicableUnknownNCT03135184
What this trial is testing

HDL Acute Lipid Optimization in Homozygous Familial Hypercholesterolemia

Who this might be right for
Homozygous Familial HypercholesterolemiaHoFH
HDL Therapeutics 6
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