Clinical trials: Storage Disease
Fabry Disease
PK/PD Study of 2 Agalsidase Formulations in Single Dose of 1 mg/kg Administered to Healthy Volunteers as IV Infusion
Pharmacokinetic/Pharmacodynamic Study of 2 agalsidase beta Formulations in Single Dose Administered to Healthy Volunteers as intravenous infusion, at a concentration of 1 mg/kg
- Trial name
- NCT05343715
- Testing
- Agalsidase beta from Biosidus 1 mg/kg, Fabrazyme (agalsidase beta) 1 mg/kg
- Where
- Argentina
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Bio Sidus SA
Hypochondroplasia
An Interventional Study of Infigratinib in Children With Hypochondroplasia
ACCEL2/3 is a Phase 2/3 study. The purpose of the Phase 2 portion of the study (ACCEL2/3) is to evaluate the efficacy and safety of infigratinib in children with hypochondroplasia (HCH) receiving infigratinib at one of two doses…
- Trial name
- HCH (NCT06873035)
- Testing
- infigratinib 0.128 mg/kg/day, infigratinib 0.25 mg/kg/day
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 24 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Tay-Sachs Disease, Sandhoff Disease
A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease
The AXO-GM2-001 study is an open-label, two-stage clinical trial designed to evaluate safety and dose-escalation (Stage 1) and safety and efficacy (Stage 2) of a bilateral thalamic and intracisternal/intrathecal infusion of…
- Trial name
- NCT04669535
- Testing
- AXO-AAV-GM2 Starting Dose, AXO-AAV-GM2 Low Dose, AXO-AAV-GM2 Middle Dose
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Terence Flotte
Type 2 Gaucher Disease
Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease
This study will use an experimental method of delivering the enzyme glucocerebrosidase directly into the brain of a patient with Gaucher disease to treat disease symptoms.
- Trial name
- NCT00244582
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Glycogen Storage Diseases
'Glycogen Storage Diseases (GSDs) in Indian Children- Establishing an Indian GSD (I-GSD) Registry'
Glycogen storage disorders (GSD) are a class of inborn metabolic abnormalities characterized by enzymatic defects in glycogen production or breakdown and are one of commonest metabolic disorders of the childhood.
- Trial name
- I-GSD (NCT06396546)
- Where
- 37 sites in India
- Volunteers
- 250 people
- Sponsor
- Institute of Liver and Biliary Sciences, India
Fabry Disease
Evaluate the Safety and Preliminary Efficacy of EXG110 in Subjects With Fabry Disease
Objective: To explore the safety and tolerability of different doses of EXG110 with Fabre disease
- Trial name
- NCT06539624
- Testing
- EXG110 injection
- Where
- 2 sites in China
- Volunteers
- 12 people
- Sponsor
- The Children's Hospital of Zhejiang University School of Medicine
Sleep Apnea Syndromes in Children, Obesity in Children
Overview: Use of Respiratory Support At Home in Children
the primary outcome is to describe the perceived success of the use of the respiratory support from the parent's point of view
- Conditions
- Sleep Apnea Syndromes in Children, Obesity in Children, Bronchopulmonary Dysplasia (BPD), Neuromuscular Disease
- Trial name
- ELIPSE (NCT06692660)
- Where
- 2 sites in France
- Volunteers
- 30 people
- Sponsor
- University Hospital, Grenoble
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II)
Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT).
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT01288027
- Testing
- Alglucosidase Alfa
- Where
- 15 sites in United States, Germany and 2 more
- Volunteers
- 16 people
- Sponsor
- Genzyme, a Sanofi Company
Ornithine Transcarbamylase Deficiency, Wilson Disease
Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease
The objective of this observational study is to evaluate the seroprevalence of anti-AAV antibodies in subjects with Ornithine Transcarbamylase (OTC) deficiency, Glycogen Storage Disease Type Ia (GSDIa), and Wilson Disease
- Conditions
- Ornithine Transcarbamylase Deficiency, Wilson Disease, Glycogen Storage Disease Type IA
- Trial name
- NCT04909346
- Where
- 5 sites in United States, Brazil and 3 more
- Volunteers
- 51 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Metachromatic Leukodystrophy
Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantation
There is currently no effective treatment for late infantile MLD once clinical symptoms are evident. METAZYM is a recombinant human arylsulfatase A developed for an intravenous ERT for the treatment of late infantile MLD.
- Trial name
- Azylis (NCT01303146)
- Testing
- rhARSA
- Where
- France
- Volunteers
- 1 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Glycogen Storage Disease Type II, Glycogenosis 2
Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00074919
- Testing
- alglucosidase alfa
- Sponsor
- Genzyme, a Sanofi Company
Skeletal Dysplasia, Reverse Overjet
Assessment of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III Patients
The study titled "Reliability Of Artificial Intelligence for Treatment Decision Recommendation of Adult Skeletal Class III Patients" aims to assess the accuracy and dependability of artificial intelligence (AI) in providing…
- Trial name
- NCT06002373
- Where
- Egypt
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Cairo University
Neutropenia
A Study of Mavorixafor in Participants With Congenital Neutropenia and Chronic Idiopathic Neutropenia Disorders
This is a 2-part study of mavorixafor in participants diagnosed with chronic neutropenia. The main goal of Part 1 (Phase 1b) is to help researchers learn more about how the investigational medicine, mavorixafor, impacts people…
- Trial name
- NCT04154488
- Testing
- Mavorixafor
- Where
- 7 sites in United States
- Volunteers
- 32 people
- Sponsor
- X4 Pharmaceuticals
Hunter Syndrome
Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome
As the HGT-HIT-046 (NCT01506141) and SHP609-302 (NCT02412787) studies are completed and closed, this post-trial access (PTA) program provides TAK-609 to participants in these studies for whom the benefit:risk ratio of continued…
- Trial name
- NCT05795361
- Testing
- Idursulfase-IT
- Where
- 22 sites in United States, Australia and 3 more
- Sponsor
- Takeda
Glycogen Storage Disease Type I
Use of Continuous Glucose Monitoring to Evaluate Postprandial Response to Raw Cornstarch Supplementation in Adult Glycogen Storage Disease Type I
The aim of this observational study is to evaluate the impact of raw cornstarch supplementation on postprandial glycemic response in adult patients with Glycogen Storage Disease type I (GSD I), using continuous glucose monitoring…
- Trial name
- NCT07645898
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Federico II University
Mucopolysaccharidosis Type IIIB, Mucopolysaccharidosis Type 3 B
A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
Mucopolysaccharidosis type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B) is a severe neurodegenerative disorder. The purpose of this study is to learn more about the health problems in patients with MPS IIIB and how…
- Conditions
- Mucopolysaccharidosis Type IIIB, Mucopolysaccharidosis Type 3 B, MPS III B, MPS 3 B
- Trial name
- NCT02493998
- Where
- 8 sites in United States, Australia and 6 more
- Volunteers
- 22 people
- Sponsor
- Allievex Corporation
Mucopolysaccharidosis Type II (MPS II)
RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome)
RGX-121 is a gene therapy which is designed to deliver a functional copy of the iduronate-2-sulfatase (IDS) gene to the central nervous system.
- Trial name
- NCT04571970
- Testing
- RGX-121
- Where
- 2 sites in United States, Canada
- Volunteers
- 6 people
- Sponsor
- REGENXBIO Inc.
Liver Fat, Fertility Disorders
Effect of Lifestyle Intervention on Mobilization of Fat Storage and Iron Deposition in Obesity
The goal of this clinical trial is to learn if calorie-restricted balanced diet could uniquely influence various fat storage pools and iron deposition and explore the relationships between fat or iron deposition loss in specific…
- Conditions
- Liver Fat, Fertility Disorders, Life Style, Healthy, Glucose Metabolism Disorders (Including Diabetes Mellitus)
- Trial name
- NCT06441409
- Testing
- Lifestyle intervention
- Where
- China
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- The Third Xiangya Hospital of Central South University
Gaucher Disease, Type 1
Long Term Follow-up Study of Type-1 Gaucher Subjects Post FLT201 Dose (GALILEO-2)
This is a multicenter, long-term, follow-up trial of participants with Gaucher disease type 1 who received FLT201 treatment in a preceding clinical trial. Participants will be followed for 5 years post-treatment.
- Trial name
- NCT06545136
- Testing
- FLT201
- Where
- 4 sites in United States, Brazil and 2 more
- Volunteers
- 75 people
- Sponsor
- Spur Therapeutics
Mucopolysaccharidosis IH/S, Mucopolysaccharidosis IS
ISP-001: Sleeping Beauty Transposon-Engineered B Cells for MPS I
A first-in-human study using ISP-001 in patients with Mucopolysaccharidosis Type I Hurler-Scheie and Scheie.
- Trial name
- NCT05682144
- Testing
- Autologous Plasmablasts (B cells)
- Where
- 2 sites in United States
- Volunteers
- 11 people
- Sponsor
- Immusoft of CA, Inc.
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