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Results for “Brain Diseases, Metabolic, Inborn”

Showing 20 of 0 results

Early research (Phase 1)UnknownNCT02297022
What this trial is testing

Deep Brain Stimulation for the Treatment of Obesity in Patients With Prader-Willi Syndrome

Who this might be right for
Prader-Willi Syndrome
University of Sao Paulo General Hospital 6
Not applicableStudy completedNCT02176603
What this trial is testing

Observational Study of Endothelial Dysfunction in Phenylketonuria

Who this might be right for
PhenylketonuriaEndothelial Dysfunction
Charite University, Berlin, Germany 51
Not applicableLooking for participantsNCT02714764
What this trial is testing

Evaluation of Outcome Metrics in Alexander Disease

Who this might be right for
Alexander Disease
Children's Hospital of Philadelphia 200
Not applicableWithdrawnNCT01306604
What this trial is testing

Biomarker for Niemann Pick Type C Disease (BioNPC)

Who this might be right for
Niemann-Pick DiseaseNiemann-Pick Disease, Type C
CENTOGENE GmbH Rostock
Not applicableStudy completedNCT00213811
What this trial is testing

Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults

Who this might be right for
Bardet-Biedl SyndromeOrphan Diseases
University Hospital, Strasbourg, France 40
Not applicableUnknownNCT03596398
What this trial is testing

Epidemiological Study of Fabry Disease in Taiwan Young Stroke Patients

Who this might be right for
Fabry Disease
Chiayi Christian Hospital 1,000
Not applicableStudy completedNCT00187057
What this trial is testing

Study for Treatment of Cancer in Children With Ataxia-telangiectasia

Who this might be right for
Ataxia-Telangiectasia
St. Jude Children's Research Hospital 6
Not applicableUnknownNCT03354507
What this trial is testing

Use of Sodium Bicarbonate in Patients Treated With Topiramate

Who this might be right for
EpilepsyMetabolic AcidosisTubular Acidosis; Renal
McMaster Children's Hospital 40
Not applicableLooking for participantsNCT07461519
What this trial is testing

Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia

Who this might be right for
Galactosemia
IRCCS Azienda Ospedaliero-Universitaria di Bologna 60
Testing effectiveness (Phase 2)Study completedNCT00283933
What this trial is testing

A 24-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease

Who this might be right for
Fabry Disease
Amicus Therapeutics 5
Not applicableStudy completedNCT02297347
What this trial is testing

The Brain and Neuropsychological Functioning in Adults With Sapropterin Dihydrochloride Treated Phenylketonuria

Who this might be right for
Phenylketonuria
Boston Children's Hospital 10
Not applicableStudy completedNCT04628364
What this trial is testing

The Natural History of Metachromatic Leukodystrophy Study (HOME Study)

Who this might be right for
Metachromatic Leukodystrophy
National Organization for Rare Disorders 21
Not applicableUnknownNCT00619333
What this trial is testing

Inactive FSH in Galactosemia

Who this might be right for
GalactosemiaPremature Ovarian Failure
Maastricht University Medical Center 25
Large-scale testing (Phase 3)Ended earlyNCT06664853
What this trial is testing

Open-Label Extension of EryDex Study IEDAT-04-2022

Who this might be right for
Ataxia Telangiectasia
Quince Therapeutics S.p.A. 101
Not applicableNot Yet RecruitingNCT06013397
What this trial is testing

Effectiveness of Ketogenic Diet in MELAS Syndrome

Who this might be right for
MELAS SyndromeKetogenic Dieting
Second Affiliated Hospital, Zhejiang University, School of Medicine 100
Not applicableUnknownNCT03589820
What this trial is testing

Plasma Exchange and Continuous Hemodiafiltration in Treatment of Wilson's Disease-related Liver Failure

Who this might be right for
Wilson DiseaseLiver Failure
Third Affiliated Hospital, Sun Yat-Sen University 60
Post-approval studies (Phase 4)UnknownNCT01052623
What this trial is testing

Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)

Who this might be right for
Ataxia TelangiectasiaGrowth Failure
Johann Wolfgang Goethe University Hospital 24
Not applicableStudy completedNCT01359774
What this trial is testing

31P-MRS and Huntington Disease

Who this might be right for
Huntington Disease
Institut National de la Santé Et de la Recherche Médicale, France 30
Not applicableStudy completedNCT02416661
What this trial is testing

Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease

Who this might be right for
Lysosomal Storage DiseasesGaucher DiseaseSphingolipidoses
CENTOGENE GmbH Rostock 299
Not applicableStudy completedNCT05186324
What this trial is testing

Fabry Patient's Experience Of PegunigaLsidasE Alfa Monthly Infusion

Who this might be right for
Fabry Disease
Chiesi Farmaceutici S.p.A. 23
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