Clinical trials: Brain Diseases, Metabolic, Inborn
Urea Cycle Disorders
Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002)
The aim of the study is to assess the efficacy of HepaStem treatment in paediatric patients suffering from urea cycle disorders.
- Trial name
- NCT02489292
- Testing
- HepaStem
- Where
- 6 sites in Belgium, France and 2 more
- Volunteers
- 5 people
- Sponsor
- Cellaion SA
Phenylketonuria
Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With Phenylketonuria
OBJECTIVES: I. Assess the impact of a phenylalanine restricted diet during pregnancy on symptoms in offspring of patients with phenylketonuria.
- Trial name
- NCT00006142
- Testing
- phenylalanine restricted diet
- Sponsor
- National Center for Research Resources (NCRR)
Pompe Disease, Glycogen Storage Disease Type II
An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease
The purpose of this study was to evaluate the efficacy, clinical benefits and safety of a prophylactic immunomodulatory regimen given prior to first treatment with alglucosidase alfa (Myozyme®) in patients with infantile-onset…
- Trial name
- NCT00701129
- Testing
- Alglucosidase Alfa, Methotrexate, Rituximab
- Where
- 2 sites in United States
- Volunteers
- 4 people
- Sponsor
- Genzyme, a Sanofi Company
Hepatic Encephalopathy, Urea Cycle Disorders
A Study of Glyceryl Tri-(4-phenylbutyrate) Administered Orally as a Single Dose, and Twice Daily for Seven Consecutive Days to Subjects With Hepatic Impairment With Cirrhosis and to a Control Group
The purpose of this study is to determine the safety and tolerability of GT4P administered orally as a single dose, and twice daily for 7 consecutive days, to subjects with hepatic impairment with cirrhosis (Child-Pugh scores of…
- Trial name
- NCT00986895
- Testing
- HPN-100
- Where
- 2 sites in Ukraine
- Volunteers
- 32 people
- Sponsor
- Amgen
Wilson Disease
Study of Tetrathiomolybdate in Patients With Wilson Disease
OBJECTIVES: Evaluate the safety and efficacy of ammonium tetrathiomolybdate alone and compared with trientine therapy as initial treatment in patients with Wilson disease presenting neurologically.
- Trial name
- NCT00004339
- Testing
- tetrathiomolybdate, trientine
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- National Center for Research Resources (NCRR)
Ataxia Telangiectasia
NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.
- Trial name
- NCT04870866
- Testing
- Nicotinamide ribonucleoside
- Where
- 2 sites in Norway
- Volunteers
- 13 people
- Sponsor
- University Hospital, Akershus
Urea Cycle Disorder, Crigler-Najjar Syndrome
HepaStem Long-Term Safety Registry
All patients having received at least one infusion of the Investigational Medicinal Product (IMP) HepaStem HHALPC during a previous interventional clinical study conducted by Promethera Biosciences
- Conditions
- Urea Cycle Disorder, Crigler-Najjar Syndrome, Acute on Chronic Liver Failure
- Trial name
- PROLONGSTEM (NCT03343756)
- Where
- 29 sites in Belgium, Bulgaria and 3 more
- Volunteers
- 44 people
- Sponsor
- Cellaion SA
Phenylketonurias, PKU
Evaluation of the Express Plus Range
A prospective, open label, acceptability study to evaluate PKU, MSUD, HCU, TYR and GA express plus in the dietary management of 40 patients with IEM.
- Conditions
- Phenylketonurias, PKU, Homocystinuria, Maple Syrup Urine Disease
- Trial name
- express plus (NCT05051657)
- Testing
- PKU express plus
- Where
- 6 sites in United Kingdom
- Volunteers
- 28 people
- Sponsor
- Vitaflo International, Ltd
Gaucher Disease, Type 1
Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV)
Background: In order to allow our satisfied patients, who have successfully completed 24 months of rapid intravenous infusion of Velaglucerase alfa (VPRIV), to continue with the 10 minutes IV therapy, the clinical trial framework…
- Trial name
- NCT04120506
- Testing
- VPRIV
- Volunteers
- 15 people
- Sponsor
- Shaare Zedek Medical Center
Pelizaeus-Merzbacher Disease
Orbit Study: A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Intrathecally Administered ION356 in Participants With Pelizaeus Merzbacher Disease (PMD)
The primary purpose of this study is to evaluate the safety and tolerability of ION356.
- Trial name
- NCT06150716
- Testing
- ION356
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 24 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Wilson Disease
French Wilson Disease Registry
This registry concerns adults and children with Wilson's disease. The collection of a large amount of data will allow a better understanding of the epidemiology of this rare disease, in particular the age of onset according to…
- Trial name
- WIL-FR (NCT05231876)
- Testing
- Recording of pathology-related information on the Wilson Register
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Fabry Disease
A Qualitative Study on the Pain and Quality of Life of Patients With Fabry Disease
Background It is necessary to find out the difficulties experienced by patients with Fabry disease and their families, and to seek solutions for them.
- Trial name
- NCT05679076
- Where
- South Korea
- Volunteers
- 10 people
- Sponsor
- Yonsei University
Pompe Disease
A Long-term Study for the Outcome of Pompe Disease
Prospectively follow patients with Pompe disease underwent enzyme replacement therapy.
- Trial name
- NCT02399748
- Where
- Taiwan
- Volunteers
- 50 people
- Sponsor
- National Taiwan University Hospital
Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathy IV
A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Charcot-Marie-Tooth 4J (CMT4J) is a rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to loss of ambulation, respiratory…
- Trial name
- CMT4J (NCT03810508)
- Where
- 2 sites in United States
- Volunteers
- 21 people
- Sponsor
- Neurogene Inc.
Ornithine Transcarbamylase Deficiency
Safety, Tolerability and Pharmacokinetics of ARCT-810 in Healthy Adult Subjects
Determine the safety, tolerability and pharmacokinetics of single doses of ARCT-810 in healthy adult subjects.
- Trial name
- NCT04416126
- Testing
- ARCT-810
- Where
- New Zealand
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Arcturus Therapeutics, Inc.
Cerebral Amyloid Angiopathy, Small Vessel Cerebrovascular Disease
Prognosis of Cerebral Small Vessel Disease
Prognosis of small vessel disease (SVD) depends on the underlying type of SVD and index manifestation. The aim of this prospective, observational cohort study is to determine the risk of different outcome events among patients…
- Conditions
- Cerebral Amyloid Angiopathy, Small Vessel Cerebrovascular Disease, Cadasil, CAA - Cerebral Amyloid Angiopathy
- Trial name
- PRO-SVD (NCT05734378)
- Where
- Switzerland
- Volunteers
- 900 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Lafora Disease
Intravenous VAL-1221 Lafora Expanded Access Protocol
Only qualified physicians treating a Lafora Disease patient may request VAL-1221 Expanded Access treatment under the Parasail Lafora Expanded Access Protocol (LEAP).
- Trial name
- LEAP (NCT05930223)
- Testing
- VAL-1221
- Sponsor
- Parasail, LLC
Gaucher Disease, Thrombocytopathy
Thrombocytopathy in Gaucher Disease Patients
In Gaucher disease type I bleeding is a common presenting symptom, that may manifest itself as frequent nose bleeds, easy bruising but can also cause substantial bleeding after surgical or dental procedures and may occur in…
- Trial name
- NCT01344096
- Where
- 2 sites in Israel
- Volunteers
- 70 people
- Sponsor
- Rabin Medical Center
Gaucher Disease
A Study of Enzyme Replacement Therapy (VPRIV) in People With Type 1 Gaucher Disease Who Were Previously Treated With Substrate Reduction Therapy
The study will provide information on outcomes in people with type 1 Gaucher disease when they are treated with velaglucarase alfa (also called VPRIV), under standard care.
- Trial name
- SWITCH (NCT04718779)
- Testing
- Digital Engagement Application (GD App), No Intervention
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Takeda
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
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