Clinical trials: Metabolism, Inborn Errors
Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
Translational Potential of ex Vivo Gene Therapy in GM2 Gangliosidosis
The project aims to optimize and validate this new therapeutic strategy using cells from GM2 patients to evaluate the cross-correction of neurons in vitro by the culture medium of genetically modified myeloid cell lines.
- Trial name
- GM2-TGEX (NCT07445490)
- Testing
- blood sample
- Where
- France
- Volunteers
- 6 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Familial Hypercholesterolemia
Clinical Exploration Trial of YOLT-101 in the Treatment of Familial Hypercholesterolemia (FH)
This study is a single arm, open, single dose escalation trial aimed at evaluating the safety and tolerability of YOLT-101 administration in patients with familial hypercholesterolemia; Determination of YOLT-101 OBD; Preliminary…
- Trial name
- NCT06458010
- Testing
- YOLT-101
- Where
- China
- Volunteers
- 20 people
- Sponsor
- RenJi Hospital
Type 1 Gaucher Disease
A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101
This is an open-label study designed to assess if AT2101 is safe in patients with Gaucher disease and how AT2101 gets through the body after it is taken by mouth.
- Trial name
- NCT00875160
- Testing
- AT2101
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 1 people
- Sponsor
- Amicus Therapeutics
Galactosemia
Gonadic Function and Pubertal Development in Female Patients With Classic Galactosemia
Newborn screening and a galactose-free diet have improved early outcomes in galactosemia, but long-term issues such as primary ovarian insufficiency (POI) remain significant.
- Trial name
- NCT07461519
- Where
- 19 sites in Italy
- Volunteers
- 60 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Tay-Sachs Disease, Porphyria, Erythropoietic
Diagnostic and Screening Study of Genetic Disorders
OBJECTIVES: I. Determine the phenotypic heterogeneity of patients with genetic disorders including their clinical spectrum and natural history. II.
- Conditions
- Tay-Sachs Disease, Porphyria, Erythropoietic, Leukodystrophy, Globoid Cell, Metabolism, Inborn Errors
- Trial name
- NCT00006057
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- National Center for Research Resources (NCRR)
Phenylketonuria
Study of Low-grade Systemic Inflammation in Adult Patients With Phenylketonuria
Patient suffering from phenylketonuria have chronic hyperphenylalaninemia. Hyperphenylalaninemia is known to be toxic to central nervous system and cardiovascular system in particular through oxydative stress.
- Trial name
- INGRAPH (NCT04879277)
- Testing
- Blood samples
- Where
- 2 sites in France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University Hospital, Tours
MELAS Syndrome
Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
The purpose of this study is to assesses the clinical efficacy of oral supplementation with glutamine over 3 years.
- Trial name
- NCT05255328
- Testing
- Glutamine oral supplement
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- Hospital Universitario 12 de Octubre
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)
Gout, Hyperuricemia
Study of URC102 to Assess the Safety and Efficacy in Gout Patients
The purpose of this study is to assess safety, Pharmacokinetics/Pharmacodynamics and Urate Lowering Effect of URC102 in gout patients.
- Trial name
- NCT02557126
- Testing
- URC102
- Where
- South Korea
- Volunteers
- 76 people
- Sponsor
- JW Pharmaceutical
Sarcoma
Doxorubicin vs. Trabectedin Plus Doxorubicin in Non Operable and/or Metastatic STS
The proposed investigation intends to explore if the combination of trabectedin and doxorubicin in the first line of treatment of advanced sarcomas obtains better results than doxorubicin monotherapy
- Trial name
- NCT01104298
- Testing
- Doxorubicin, Trabectedin
- Where
- 20 sites in Spain
- Volunteers
- 115 people
- Sponsor
- Grupo Espanol de Investigacion en Sarcomas
Gout Chronic, Gout
Drug-Drug Interaction Study of ABP-671 in Gout Patients
This is a open-Label, Within-Subject Drug-Drug Interaction Study of ABP-671 Added to Stable Allopurinol Therapy in Gout Patients.
- Conditions
- Gout Chronic, Gout, DDI (Drug-Drug Interaction)
- Trial name
- NCT07367971
- Testing
- ABP-671 plus allopurinol
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Atom Therapeutics Co., Ltd
X-linked Hypophosphatemia (XLH)
Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Pediatric Chinese Patients With XLH
The purpose of this study is to assess the safety, pharmacokinetics and efficacy of KRN23 in pediatric Chinese patients with XLH
- Trial name
- NCT04842032
- Testing
- KRN23
- Where
- 5 sites in China
- Volunteers
- 28 people
- Sponsor
- Kyowa Kirin Co., Ltd.
CTX
Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)
The study is made up of two cohorts: a randomized double-blind crossover (placebo withdrawal with rescue) study among patients ≥ 16 years of age (adult cohort) and an open-label dose titration study among pediatric patients ≥1…
- Trial name
- NCT04270682
- Testing
- Blinded CDCA 250 mg TID, Open-Label CDCA 250 mg TID, Rescue Medication CDCA 250 mg TID
- Where
- 12 sites in United States, Brazil
- Volunteers
- 19 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Healthy Participants
A First-in-Human, Single- and Multiple-Ascending Dose Study of YH35995 in Healthy Adult Male Participants
This is a randomized, double-blind, first-in-human study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of single and multiple oral doses of YH35995
- Trial name
- NCT06517914
- Testing
- YH35995
- Where
- South Korea
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- Yuhan Corporation
X Linked Hypophosphatemia
Burden of Disease and Functional Impairment in XLH
Observational study comprising prospective follow up as well as retrospective chart review in order to evaluate the longitudinal course of the disease in XLH patients with a specific focus on functional impairment, physical…
- Trial name
- IdeFIX (NCT04946409)
- Testing
- no intervention
- Where
- Germany
- Volunteers
- 60 people
- Sponsor
- Wuerzburg University Hospital
Sanfilippo Syndrome Type A
A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)
The purpose is to evaluate the course of disease progression in MPS IIIA patients who are untreated to identify potential surrogate endpoints that may be utilized in future ERT trials of MPS IIIA via defined assessments including…
- Trial name
- NCT01047306
- Testing
- assessment
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Shire
Fabry Disease
The Safety and Efficacy of Intravenous EXG110 in Patients With Fabry Disease
A phase 1/2, multicenter, open-label, Dose-escalation study to evaluate the safety and efficacy of intravenous EXG110 in patients with Fabry disease
- Trial name
- NCT06819514
- Testing
- EXG110 Injection
- Where
- 3 sites in China
- Volunteers
- 16 people
- Sponsor
- Guangzhou Jiayin Biotech Ltd
Jansky-Bielschowsky Disease, Batten Disease
A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease
The purpose of this study is to determine whether BMN 190 is safe and effective in the treatment of patients with Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) disease.
- Conditions
- Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease
- Trial name
- NCT01907087
- Testing
- BMN 190
- Where
- 5 sites in United States, Germany and 2 more
- Volunteers
- 24 people
- Sponsor
- BioMarin Pharmaceutical
Familial Hypercholesterolemia - Homozygous
Study to Evaluate Safety, Tolerability and Efficacy of Inclisiran in Children With Homozygous Familial Hypercholesterolemia
This is a pivotal phase III study designed to evaluate safety, tolerability, and efficacy of inclisiran in children (aged 2 to <12 years) with homozygous familial hypercholesterolemia (HoFH) and elevated low density lipoprotein…
- Trial name
- ORION-19 (NCT06597006)
- Testing
- Inclisiran
- Where
- 19 sites in United States, Austria and 9 more
- Volunteers
- 9 people
- Sponsor
- Novartis Pharmaceuticals
FAP, Familial Amyloid Polyneuropathy
Extension Study Assessing Long Term Safety and Efficacy of IONIS-TTR Rx in Familial Amyloid Polyneuropathy (FAP)
This study evaluates the safety and tolerability of extended dosing with IONIS-TTR Rx in patients with Familial Amyloid Polyneuropathy.
- Conditions
- FAP, Familial Amyloid Polyneuropathy, TTR, Transthyretin
- Trial name
- NCT02175004
- Testing
- Inotersen
- Where
- 22 sites in United States, Argentina and 7 more
- Volunteers
- 135 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
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