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Results for “Fah Deficiency”

26 trials

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Enrolling by Invitation

Showing 20 of 26 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 applicableStudy completedNCT00004443
What this trial is testing

Study of NTBC for Tyrosinemia I

Who this might be right for
Tyrosinemia I
University of Washington 20
Not applicableStudy completedNCT05051657
What this trial is testing

Evaluation of the Express Plus Range

Who this might be right for
PhenylketonuriasPKUHomocystinuria+3 more
Vitaflo International, Ltd 28
Not applicableStudy completedNCT02320084
What this trial is testing

Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care

Who this might be right for
Hereditary Tyrosinemia, Type I
Swedish Orphan Biovitrum 315
Early research (Phase 1)Study completedNCT02750709
What this trial is testing

Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin

Who this might be right for
Hereditary Tyrosinemia, Type I
Cycle Pharmaceuticals Ltd. 24
Not applicableNot Yet RecruitingNCT06298292
What this trial is testing

Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies

Who this might be right for
Tyrosinemia, Type ITyrosinemia, Type IITyrosinemia, Type III+3 more
metaX Institut fuer Diatetik GmbH 15
Not applicableLooking for participantsNCT06941532
What this trial is testing

GMP Powdered Substitutes in PKU and TYR

Who this might be right for
PhenylketonuriaTyrosinemia
Nutricia UK Ltd 40
Not applicableWithdrawnNCT03284658
What this trial is testing

Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)

Who this might be right for
TyrosinosisHepatorenal TyrosinemiaFumarylacetoacetase Deficiency+2 more
CENTOGENE GmbH Rostock
Not applicableUnknownNCT05910151
What this trial is testing

Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

Who this might be right for
Propionic/Methylmalonic AcidemiasMaple Syrup Urine DiseaseCitrullinemia+26 more
West Kazakhstan Medical University 2,250
Testing effectiveness (Phase 2)Study completedNCT00004333
What this trial is testing

Phase II Study of the Enzyme Inhibitor NTBC for Tyrosinemia Type I

Who this might be right for
Tyrosinemia, Type I
National Center for Research Resources (NCRR)
Early research (Phase 1)Ended earlyNCT01331018
What this trial is testing

Gene Therapy for Fanconi Anemia

Who this might be right for
Fanconi Anemia
Fred Hutchinson Cancer Center 3
Early research (Phase 1)Study completedNCT02750332
What this trial is testing

Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)

Who this might be right for
Hereditary Tyrosinemia, Type I
Cycle Pharmaceuticals Ltd. 20
Not applicableUnknownNCT03446586
What this trial is testing

Hereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study)

Who this might be right for
Hereditary Tyrosinemia, Type I
Yassin Abdelghaffar Charity Center for Liver Disease and Research 50
Not applicableStudy completedNCT04761588
What this trial is testing

Evaluation of TYR Sphere in France

Who this might be right for
TyrosinemiaAKU
Vitaflo International, Ltd 14
Not applicableActive Not RecruitingNCT04437771
What this trial is testing

Long-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene Therapy

Who this might be right for
Fanconi Anemia Complementation Group AFanconi Anemia
Rocket Pharmaceuticals Inc. 9
Not applicableUnknownNCT04113772
What this trial is testing

Bio Equivalency 20 Mgm Orfadin and 20 Mgm of Nitisonine

Who this might be right for
Hereditary Tyrosinemia, Type I
Sutphin Drugs 4
Testing effectiveness (Phase 2)Study completedNCT02931071
What this trial is testing

Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1

Who this might be right for
Fanconi Anemia
Hospital Universitari Vall d'Hebron Research Institute 13
Not applicableUnknownNCT03351868
What this trial is testing

FANCA Gene Transfer for Fanconi Anemia Using a High-safety, High-efficiency, Self-inactivating Lentiviral Vector

Who this might be right for
Fanconi Anemia
Shenzhen Geno-Immune Medical Institute 10
Early research (Phase 1)Study completedNCT02750345
What this trial is testing

Bioequivalence Study of Two Oral Nitisinone Formulations to Treat Hereditary Tyrosinemia (HT-1)

Who this might be right for
Hereditary Tyrosinemia, Type I
Cycle Pharmaceuticals Ltd. 24
Not applicableStudy completedNCT05062226
What this trial is testing

GMP Case Studies of Tolerance, Safety and Acceptability in PKU and TYR

Who this might be right for
PKUTyrosinemias
Nutricia UK Ltd 45
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