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Results for “Autosomal or Sex Linked Recessive Genetic Disease”

4 trials

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Enrolling by Invitation

Showing 4 of 4 results

Not applicableAvailableNCT01995305
What this trial is testing

Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

Who this might be right for
Fanconi AnemiaAutosomal or Sex Linked Recessive Genetic DiseaseBone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.+1 more
Xiaofan Zhu
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 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
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