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Results for “Recessive Hereditary Disorder (Autosomal)”

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Showing 6 of 0 results

Not applicableActive Not RecruitingNCT04656028
What this trial is testing

Genetic Testing and Motivational Counseling for FH

Who this might be right for
Hypercholesterolemia, FamilialHypercholesterolemia, Familial, 1Hypercholesterolemia, Familial, 2+23 more
National Medical Research Center for Therapy and Preventive Medicine 180
Not applicableEnrolling By InvitationNCT04681781
What this trial is testing

SLC13A5 Deficiency Natural History Study - Remote Only

Who this might be right for
Citrate Transporter DeficiencyEpilepsyRare Diseases+7 more
TESS Research Foundation 20
Not applicableStudy completedNCT00001166
What this trial is testing

Gyrate Atrophy of the Choroid and Retina

Who this might be right for
Gyrate Atrophy
National Eye Institute (NEI) 65
Not applicableLooking for participantsNCT07201025
What this trial is testing

Imaging Assessments of ARPKD Kidney Disease Progression

Who this might be right for
Autosomal Recessive Polycystic Kidney Disease
The Cleveland Clinic 60
Not applicableLooking for participantsNCT06065852
What this trial is testing

National Registry of Rare Kidney Diseases

Who this might be right for
Adenine Phosphoribosyltransferase DeficiencyAH AmyloidosisAHL Amyloidosis+81 more
UK Kidney Association 35,000
Not applicableLooking for participantsNCT05354622
What this trial is testing

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

Who this might be right for
Hereditary Spastic ParaplegiaNeurodegenerative DiseasesPediatric Disorder+3 more
Boston Children's Hospital 200