Clinical trials: Brain Diseases, Metabolic, Inborn
Metachromatic Leukodystrophy (MLD)
Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD
This is a Phase I/II clinical trial of gene therapy for treating Metachromatic leukodystrophy (MLD) using a safety and efficacy improved self-inactivating lentiviral vector TYF-ARSA to transduce patient-derived hematopoietic stem…
- Trial name
- NCT07046338
- Testing
- Lentiviral TYF-ARSA correction of patient's autologous HSCs
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Gaucher Disease, Type 3
MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)
Recent studies have has shown that magnetic resonance spectroscopy (MRS) can provide validated neuronal markers in patients with Type 1 GD (GD1) who are on stable therapy.
- Trial name
- NCT05586243
- Testing
- No intervention
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- University of Minnesota
Gaucher Disease
Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
This is an observational study intended to generate preliminary data to understand how lysosomal dysfunction can affect the biogenesis of extracellular vesicles, its content and function.
- Trial name
- NCT05843552
- Testing
- no intervention
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of Minnesota
Frontotemporal Dementia, Huntington Disease
Evaluation and Characterization of Behavioural Disorders and Dementias by the Behavioural Dysexecutive Syndrome Inventory (BDSI)
Behavioural disorders are very common right from the initial stage of dementia and contribute to loss of autonomy. Behavioural dysexecutive disorders have a particular status due to their prevalence and their diagnostic…
- Conditions
- Frontotemporal Dementia, Huntington Disease, Alzheimer Disease, Semantic Dementia
- Trial name
- ISDC (NCT02819700)
- Testing
- prevalence of behavioural dysexecutive syndrome
- Where
- 2 sites in France
- Volunteers
- 49 people
- Sponsor
- Centre Hospitalier Universitaire, Amiens
Fabry Disease
Fabry Aim Children Early (ACE) Project
The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms.
- Trial name
- NCT04965467
- Testing
- Screening for Fabry disease
- Where
- 21 sites in China
- Sponsor
- Children's Hospital of Fudan University
Ataxia-Telangiectasia (A-T)
Expanded Access Program (EAP) of Levacetylleucine for Ataxia-Telangiectasia (A-T)
This expanded access program provides investigational levacetylleucine to patients with Ataxia-Telangiectasia who are not eligible for clinical trials and have no satisfactory alternative therapies.
- Trial name
- NCT07380165
- Testing
- Levacetylleucine
- Sponsor
- IntraBio Inc
Adrenoleukodystrophy
Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children
Study the clinical manifestations and gene mutation of Taiwanese ALD patients
- Trial name
- NCT00278044
- Testing
- blood sampling and medical records
- Where
- Taiwan
- Volunteers
- 20 people
- Sponsor
- Far Eastern Memorial Hospital
Leigh Syndrome
ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome
A phase 2a, open-label study to evaluate the safety, tolerability, and clinical activity of ABI-009 (nab-sirolimus) in patients with genetically-confirmed Leigh or Leigh-like syndrome
- Trial name
- NCT03747328
- Testing
- ABI-009
- Sponsor
- Aadi Bioscience, Inc.
Phenylketonurias
Life With Phenylketonuria. Adult Neurological Outcome of PCU Screened Patients From 1971 to 2002.
You were detected during the neonatal period for phenylketonuria and you benefited from the diagnosis of an adapted dietetic care, and this for a variable duration according to the recommendations followed at that time.
- Trial name
- PCU (NCT04433728)
- Where
- France
- Volunteers
- 42 people
- Sponsor
- University Hospital, Lille
Healthy Volunteers
A Trial to Examine the Interaction of Repinatrabit With Ethinyl Estradiol/Norethindrone, Metformin,Carbamazepine, Rosuvastatin, and Methotrexate When Administered Together
The purpose of this study is to assess the drug-drug interaction (DDI) of repinatrabit with ethinyl estradiol/norethindrone or norethisterone (EE/NE), metformin, rosuvastatin, carbamazepine, and methotrexate in healthy…
- Trial name
- NCT07446400
- Testing
- Repinatrabit, EE/NE, Metformin
- Where
- Australia
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
X-linked Adrenoleukodystrophy
SMART-ALD - A New Lifestyle Intervention to Improve Quality of Life in Women With X-linked Adrenoleukodystrophy (X-ALD)
X-linked Adrenoleukodystrophy (X-ALD) is one of the most frequent inborn error of metabolism caused by mutations in the ABCD1 gene, which codes for the transporter of saturated very long-chain fatty acids (VLCFA) for peroxisomal…
- Trial name
- NCT04687007
- Testing
- SMART-ALD, Waiting list
- Where
- 2 sites in Germany
- Volunteers
- 68 people
- Sponsor
- Leipzig University Medical Center
Pompe Disease
Albuterol in Individuals With Late Onset Pompe Disease (LOPD)
Albuterol is a drug approved by the US Food and Drug Administration (FDA) for treating breathing problems such as asthma. Studies have shown that albuterol may be beneficial in improving muscle function in people with late-onset…
- Trial name
- NCT01859624
- Testing
- Albuterol
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Duke University
Gaucher Disease
A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease
Gaucher disease is a lysosomal storage disorder resulting from a deficiency in the key enzyme b-glucocerebrosidase (GCase). This enzyme is responsible for breaking down a specialized type of fat molecule, known as…
- Trial name
- NCT00465062
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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
Primary Mitochondrial Disease
OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)
The goal of this clinical trial is to learn about the treatment effects of the investigational new drug OMT-28 in patients with Primary Mitochondrial Disease.
- Trial name
- PMD-OPTION (NCT05972954)
- Testing
- OMT-28
- Where
- 9 sites in Germany, Italy and 1 more
- Volunteers
- 28 people
- Sponsor
- Omeicos Therapeutics GmbH
Brain Neoplasm, Neoplasm Metastasis
Gene Therapy for the Treatment of Brain Tumors
Malignant brain tumors are responsible for a significant amount of deaths in children and adults. Even with advances in surgery, radiation therapy, and chemotherapy, many patients diagnosed with a malignant brain tumor survive…
- Trial name
- NCT00001328
- Testing
- Cytovene (Ganciclovir Sodium), G1TKSVNa.53 Producer Cell Line
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Hurler Syndrome (MPS I), Hurler-Scheie Syndrome
Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
The goal of this research study is to establish chimerism and avoid graft-versus-host-disease (GVHD) in patients with inherited metabolic disorders.
- Conditions
- Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III)
- Trial name
- NCT01372228
- Testing
- hematopoietic stem cell infusion
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Talaris Therapeutics Inc.
Gaucher Disease
Home Therapy With VPRIV in Gaucher's Disease
The purpose of this study is to proof increasing patient satisfaction and preservation of quality of life in patients with Gaucher's Disease receiving their enzyme replacement therapy with VPRIV (Velaglucerase alfa)at their home…
- Trial name
- NCT01356537
- Where
- 11 sites in Austria, Germany
- Volunteers
- 34 people
- Sponsor
- Shire
PKU, Hyperphenylalaninemia
Study of a National Cohort of Adult Patients With Phenylketonuria
Phenylketonuria (PKU) is a metabolic disease of genetic origin. This is a rare disease (incidence 1 / 16000 births) which is the subject of a systematic neonatal screening in France, because it is treatable by a diet low in…
- Trial name
- ECOPHEN (NCT01619722)
- Where
- 16 sites in France
- Volunteers
- 220 people
- Sponsor
- University Hospital, Tours
MELAS Syndrome, Noninsulin-dependent Diabetes Mellitus With Deafness
Mitochondrial nt3243 A>G Mutation in Taiwan
Mitochondrial diseases are multisystem disorders that present with a wide range of clinical manifestations. Mitochondrial DNA nt3243A>G mutation is one of the most common mutations seen in mitochondrial diseases.
- Trial name
- NCT02114554
- Where
- Taiwan
- Volunteers
- 40 people
- Sponsor
- National Taiwan University Hospital
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.