Clinical trials: Brain Diseases, Metabolic, Inborn
Ataxia Telangiectasia
International Ataxia Rating Scale in Younger Patients
The project will collect information on the mapping of clinical ratings on a number of scales that are used in the assessment of patients with ataxias.
- Trial name
- NCT01942850
- Where
- 5 sites in United States, India and 2 more
- Volunteers
- 63 people
- Sponsor
- Quince Therapeutics S.p.A.
Leukemia, Myeloid, Acute, Leukemia, B-cell
Precision Exercise in Children With Malignant Hemopathies
In the early years of life and during adolescence, physical activity is crucial for good development of motor skills. It is even more so for those children and young people who are forced to undergo anti-cancer therapies and…
- Conditions
- Leukemia, Myeloid, Acute, Leukemia, B-cell, Leukemia, T Cell, Lymphoma, Hodgkin
- Trial name
- SportTherapy (NCT04090268)
- Testing
- Sport Therapy
- Where
- Italy
- Volunteers
- 380 people, healthy volunteers welcome
- Sponsor
- University of Milano Bicocca
Fabry Disease
Physician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry Disease
This program allows physicians to request permission from Amicus Therapeutics (Amicus) for treatment access to migalastat hydrochloride (HCl) for specific patients with Fabry disease. Treatment is open label.
- Trial name
- NCT01476163
- Testing
- migalastat HCl 150 mg, migalastat HCl 20 mg
- Sponsor
- Amicus Therapeutics
Lysosomal Acid Lipase Deficiency, Wolman Disease
Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
This was an open-label, repeat-dose, intra-participant dose-escalation study of SBC-102 (sebelipase alfa) in children with growth failure due to lysosomal acid lipase (LAL) Deficiency.
- Trial name
- NCT01371825
- Testing
- Sebelipase alfa (SBC-102)
- Where
- 7 sites in United States, Egypt and 3 more
- Volunteers
- 9 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Acute Myocardial Infarction, Restenoses, Coronary
Abbott Vascular Medical Device Registry
The AV-MDR is a prospective, non-randomized, open-label, multi-center registry. The purpose of the AV-MDR study is to proactively collect and evaluate clinical data on the usage of the devices in scope within their intended use…
- Conditions
- Acute Myocardial Infarction, Restenoses, Coronary, Coronary Artery Lesions, Venous Embolism
- Trial name
- AV-MDR (NCT04573660)
- Testing
- Coronary and peripheral stents, Pacing catheters, Vascular plugs
- Where
- 37 sites in United States, Australia and 12 more
- Volunteers
- 3,784 people
- Sponsor
- Abbott Medical Devices
Type 3 Gaucher Disease
Managed Access Program of Venglustat in Pediatric and Adult Patients With Type 3 Gaucher Disease (GD3).
The objective of this program is to provide early access to venglustat for certain patients with Gaucher disease type 3 in response to unsolicited requests from healthcare providers.
- Trial name
- NCT07675031
- Testing
- GZ402671
- Sponsor
- Sanofi
Prader-Willi Syndrome, Growth Hormone Deficiency
Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome?
The purpose of this study is to estimate the sensibility at the growth hormone in vivo at the children presenting a Prader-Willi syndrome (SPW) in comparison with children presenting a deficit in growth hormone (GHD).
- Trial name
- NCT01298180
- Testing
- Growth hormone (Genotonorm® or Omnitrope®), DEXA, blood tests, H.G.P.O, osseous age., biopsy
- Where
- 26 sites in France
- Volunteers
- 111 people
- Sponsor
- University Hospital, Toulouse
Metachromatic Leukodystrophy (MLD)
Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
Objectives: The overall objective is to evaluate the safety, efficacy and pharmacokinetics (PK) of rhASA treatment in patients with late infantile MLD.
- Trial name
- NCT00418561
- Testing
- rhASA - Dose Level 1, rhASA - Dose Level 2, rhASA - Dose Level 3
- Where
- Denmark
- Volunteers
- 13 people
- Sponsor
- Shire
Glaucoma, Neuroprotection
Effect of Fixed Combination Citicoline Homotaurine and Pyrroloquinoline Quinone on Pattern-electroretinogram in Glaucoma
The goal of this clinical trial is to examine the effect of the fixed combination Citicoline 500 mg, Homotaurine 50 mg, Pyrroloquinoline quinone (PQQ) disodium salt (Neuprozin Mito®) on pattern electroretinogram (PERG) in…
- Trial name
- NCT06431113
- Testing
- Citicoline 500 mg plus Homotaurine 50 mg plus Pyrroloquinoline quinone (Neuprozin Mito® )
- Where
- 2 sites in Italy
- Volunteers
- 40 people
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
Wilson Disease
Study of ALXN1840 on the Metabolism of a CYP2B6 Substrate in Healthy Participants
This is a Phase 1, randomized, 2-period, 2-sequence, cross-over study designed to determine the effect of ALXN1840 on the metabolism of bupropion, a sensitive cytochrome P450 2B6 (CYP2B6) substrate, in healthy male and female…
- Trial name
- NCT04526210
- Testing
- ALXN1840, Bupropion Hydrochloride
- Where
- United States
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- Alexion Pharmaceuticals, Inc.
Ataxia Telangiectasia, Growth Failure
Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)
This study will evaluate the status of the growth hormone/ insulin-like growth factor-1 (GH/IGF-1) axis in relation to growth failure, body weight and composition and neuroprotection in children with Ataxia telangiectasia (AT).
- Trial name
- GHAT (NCT01052623)
- Testing
- Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
- Where
- Germany
- Volunteers
- 24 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
Ataxia Telangiectasia
Baclofen Treatment of Ataxia Telangiectasia
This research is being done to find out if Baclofen, a medicine that is often used for the treatment of abnormal stiffness, might also be useful to treat some of the neurologic problems caused by ataxia telangiectasia (A-T).
- Trial name
- NCT00640003
- Testing
- Baclofen
- Where
- 2 sites in United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
Pompe Disease
High Risk Screen of Childhood Late-onset Pompe Disease in Pediatric Outpatient Clinics
Establish of high-risk screening criteria to earlier identify possible childhood LOPD for early treatment and better prognosis. Therefore, validation of the high-risk screening criteria for childhood LOPD will be critical for…
- Trial name
- NCT04981210
- Where
- Taiwan
- Volunteers
- 1,500 people
- Sponsor
- National Taiwan University Hospital
Fabry Disease
A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease
Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) and how migalastat works in participants with Fabry disease.
- Trial name
- NCT00283959
- Testing
- migalastat HCl
- Where
- 2 sites in Australia, Brazil
- Volunteers
- 4 people
- Sponsor
- Amicus Therapeutics
Friedreich Ataxia
Characterisation of the Cognitive Profile of Patients Suffering From Friedreich's Ataxia
Friedreich's Ataxia (FA) Friedreich's Ataxia is a neurodegenerative disease caused by a homozygous expansion of the GAA triplet repeats of the frataxin gene (FXN). FA usually begins in childhood or adolescence.
- Trial name
- CPCAF (NCT05874388)
- Where
- France
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Gaucher Disease, Type 1, Cerebroside Lipidosis Syndrome
Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease
This is a multicenter, randomized trial to compare the safety and efficacy of two dosing frequencies of Cerezyme® in patients with Gaucher disease who are currently being treated with Cerezyme®.
- Conditions
- Gaucher Disease, Type 1, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease
- Trial name
- NCT00364858
- Testing
- Cerezyme
- Where
- 26 sites in United States, Brazil and 5 more
- Volunteers
- 95 people
- Sponsor
- Genzyme, a Sanofi Company
Ischemic Stroke Hospitalized
Fabry : National Initiative of Screening
Fabry disease is a genetic disease due to an enzymatic deficit. A screening of this disease allows patients to benefit from an enzyme replacement therapy and prevent the occurrence of life threatening manifestations such as an…
- Trial name
- FIND (NCT00484549)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 889 people
- Sponsor
- University Hospital, Clermont-Ferrand
Phenylketonurias
A Prospective Clinical Study of Phenylketonuria (PKU)
This is a study for adults and children ≥ 14 years old who have Phenylketonuria (PKU) with uncontrolled plasma Phe levels. No clinical intervention or study drug is provided by BioMarin in this study.
- Trial name
- NCT04452513
- Where
- 14 sites in United States
- Volunteers
- 32 people
- Sponsor
- BioMarin Pharmaceutical
Farber Disease, Farber's Disease
Farber Disease Natural History Study
The primary objective of this study is to establish the natural history of Farber disease (acid ceramidase deficiency) through the collection and analysis of retrospective and prospective data on patients diagnosed with Farber…
- Conditions
- Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency
- Trial name
- NCT03233841
- Where
- 15 sites in United States, Argentina and 7 more
- Volunteers
- 45 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
MELAS Syndrome, Mitochondrial Diseases
Ketones & Mitochondrial Heteroplasmy
The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known mutation in their mtDNA at position 3243 (A>G).
- Trial name
- NCT01252979
- Testing
- Medium-Chain Triglycerides
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- The University of Texas Health Science Center, Houston
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