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Results for “Brain Diseases, Metabolic, Inborn”

1,590 trials

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Showing 20 of 1,590 results

Not applicableStudy completedNCT00359515
What this trial is testing

Genetic Analysis of Oculocerebrorenal Syndrome of Lowe

Who this might be right for
Lowe Syndrome
National Human Genome Research Institute (NHGRI) 120
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 completedNCT05343715
What this trial is testing

PK/PD Study of 2 Agalsidase Formulations in Single Dose of 1 mg/kg Administered to Healthy Volunteers as IV Infusion

Who this might be right for
Fabry Disease
Bio Sidus SA 24
Not applicableStudy completedNCT03505125
What this trial is testing

A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults

Who this might be right for
Phenylketonuria (PKU)
BioMarin Pharmaceutical 63
Not applicableEnded earlyNCT03886714
What this trial is testing

Screening for Fabry Disease in Renal Transplantation

Who this might be right for
Fabry DiseaseNephropathy
University Hospital, Montpellier 592
Very early researchStudy completedNCT03838016
What this trial is testing

Preventing Speech and Language Disorders in Children With Classic Galactosemia

Who this might be right for
Classic GalactosemiaSpeech Disorders in ChildrenLanguage Disorders in Children
Arizona State University 285
Not applicableStudy completedNCT01428258
What this trial is testing

Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria

Who this might be right for
Phenylketonuria
University of Wisconsin, Madison 32
Not applicableLooking for participantsNCT07290114
What this trial is testing

Mesh-Free Versus Mesh-Based Surgery for Female Stress Urinary Incontinence: A Prospective Comparison of Pubo-Urethral Ligament Plication and Transobturator Tape

Who this might be right for
Stress Urinary Incontinence (SUI)
Mehmet Incebıyik 147
Large-scale testing (Phase 3)Study completedNCT02841215
What this trial is testing

Efficacy Study Between Two Different Dosages of an Antiparasitic in Patients With Crusted Scabies

Who this might be right for
GaleSevere Forms of ScabiesOral Parasitic Drug+1 more
Assistance Publique - Hôpitaux de Paris 133
Early research (Phase 1)Not Yet RecruitingNCT07787650
What this trial is testing

S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)

Who this might be right for
Pompe Disease
Shionogi 15
Not applicableStudy completedNCT02336633
What this trial is testing

Resveratrol and Huntington Disease

Who this might be right for
Huntington Disease
Assistance Publique - Hôpitaux de Paris 102
Not applicableStudy completedNCT06845397
What this trial is testing

Chuvashia Inappropriate Prescribing Study

Who this might be right for
Multimorbidity, Cardiovascular Diseases
National Medical Research Center for Therapy and Preventive Medicine 300
Not applicableEnded earlyNCT00149318
What this trial is testing

Enzyme Replacement Therapy in Fabry Disease

Who this might be right for
Fabry Disease
Mario Negri Institute for Pharmacological Research 2
Not applicableStudy completedNCT05687474
What this trial is testing

Baby Detect : Genomic Newborn Screening

Who this might be right for
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more
Centre Hospitalier Universitaire de Liege 6,824
Very early researchNot Yet RecruitingNCT07318909
What this trial is testing

To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria

Who this might be right for
Phenylketonuria (PKU)
Gritgen Therapeutics Co., Ltd. 9
Large-scale testing (Phase 3)Study completedNCT00125879
What this trial is testing

Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602

Who this might be right for
Glycogen Storage Disease Type II
Genzyme, a Sanofi Company 16
Not applicableEnded earlyNCT00078091
What this trial is testing

Genetics and Clinical Characteristics of Bardet-Biedl Syndrome

Who this might be right for
Bardet-Biedl Syndrome
National Human Genome Research Institute (NHGRI) 194
Large-scale testing (Phase 3)Study completedNCT00059280
What this trial is testing

The Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease

Who this might be right for
Glycogen Storage Disease Type II
Genzyme, a Sanofi Company 16
Not applicableAvailableNCT06931262
What this trial is testing

Expanded Access Treatment Protocol With DCA for Patients With PDCD

Who this might be right for
Pyruvate Dehydrogenase Complex Deficiency
Saol Therapeutics Inc
Not applicableActive Not RecruitingNCT05874388
What this trial is testing

Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia

Who this might be right for
Friedreich Ataxia
Institut National de la Santé Et de la Recherche Médicale, France 70
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