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Results for “Rare Autosomal Recessive Disorder”

10 trials

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Enrolling by Invitation

Showing 10 of 10 results

Not applicableEnrolling By InvitationNCT03655223
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
Not applicableEnrolling By InvitationNCT06144957
What this trial is testing

SLC13A5 Deficiency Natural History Study - United States Only

Who this might be right for
Citrate Transporter DeficiencyEpilepsyRare Diseases+7 more
TESS Research Foundation 17
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 participantsNCT01793168
What this trial is testing

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Who this might be right for
Rare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more
Sanford Health 20,000
Testing effectiveness (Phase 2)WithdrawnNCT06147856
What this trial is testing

A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria

Who this might be right for
Phenylketonuria
ModernaTX, Inc.
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 applicableActive Not RecruitingNCT04126005
What this trial is testing

Natural History Study of Patients With Canavan Disease (CANinform Study)

Who this might be right for
Canavan Disease
Aspa Therapeutics 70
Early research (Phase 1)Study completedNCT01894165
What this trial is testing

Phase 1 Single Dose Study of ALXN1101 in Healthy Volunteers

Who this might be right for
Molybdenum Cofactor Deficiency (MoCD)Rare Autosomal Recessive DisorderDeficiency of Activity of Molybdenum-dependent Enzymes (Sulfite Oxidase [SOX], Xanthine Dehydrogenase, and Aldehyde Oxidase)
Origin Biosciences 24
Not applicableStudy completedNCT04157595
What this trial is testing

Mackenzie's Mission: The Australian Reproductive Carrier Screening Project

Who this might be right for
X-Linked Genetic DiseasesAutosomal Recessive Disorder
Murdoch Childrens Research Institute 18,302
Testing effectiveness (Phase 2)Looking for participantsNCT04998396
What this trial is testing

AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)

Who this might be right for
Canavan Disease
Aspa Therapeutics 26