Clinical trials: Metabolism, Inborn Errors
Pelizaeus-Merzbacher Disease
Study of Human Central Nervous System (CNS) Stem Cells Transplantation in Pelizaeus-Merzbacher Disease (PMD) Subjects
The purpose of this study is to determine the safety and preliminary effectiveness of human central nervous system stem cells (HuCNS-SC®) transplantation in patients with Connatal Pelizaeus-Merzbacher Disease (PMD).
- Trial name
- NCT01005004
- Testing
- HuCNS-SC cells
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- StemCells, Inc.
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission
Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
This phase II trial studies how well fludarabine phosphate, cyclophosphamide, total body irradiation, and donor stem cell transplant work in treating patients with blood cancer.
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
- Trial name
- NCT03333486
- Testing
- Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Roswell Park Cancer Institute
Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial
To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
The AG10-504 study is an open-label extension study of acoramidis in participants with newly diagnosed transthyretin amyloid cardiomyopathy (ATTR-CM) or both ATTR-CM and transthyretin amyloid polyneuropathy (ATTR-PN).
- Conditions
- Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial, Amyloid Cardiomyopathy, Amyloid Cardiomyopathy, Transthyretin-Related
- Trial name
- NCT07116473
- Testing
- Acoramidis (AG10)
- Volunteers
- 250 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Hutchinson-Gilford Progeria Syndrome
Study to Determine Optimal Dose and Evaluate Safety, Tolerability, and Pharmacokinetics of Progerinin in Patients With Hutchinson-Gilford Progeria Syndrome (HGPS)
Researchers will compare treatment with progerinin plus lonafarnib vs lonafarnib alone to assess optimal dosing, safety, tolerability, and pharmacokinetics in patients with Hutchinson-Gilford Progeria Syndrome (HGPS).
- Trial name
- NCT06775041
- Testing
- Progerinin, Lonafarnib
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- PRG Science & Technology Co., Ltd.
Porphyria
Studies in Porphyria I: Characterization of Enzyme Defects
OBJECTIVES: I. Characterize enzyme defects in patients with known or suspected porphyria and their family members. II. Determine whether selected patients are eligible for other porphyria research protocols. III.
- Trial name
- NCT00004331
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Center for Research Resources (NCRR)
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Clinical Trial of Growth Hormone in MPS I, II, and VI
The purpose of this study is to determine whether growth hormone is a safe and effective treatment for short stature in children with Mucopolysaccharidosis type I, II, and VI.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
- Trial name
- NCT00748969
- Testing
- Somatropin (DNA origin)
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Gaucher Disease, Parkinson Disease
World Data on Ambroxol for Patients With GD and GBA Related PD
Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was found to also act as a pharmacological chaperone (PC) for mutant glucocerebrosidase, albeit in a…
- Conditions
- Gaucher Disease, Parkinson Disease, GBA Gene Mutation
- Trial name
- NCT04388969
- Where
- 3 sites in Israel
- Volunteers
- 300 people
- Sponsor
- Shaare Zedek Medical Center
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Menkes Disease, Occipital Horn Syndrome
NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Occipital Horn Syndrome
The purpose of this study is to evaluate whether Northera (Droxidopa) is safe and effective in young adults with Menkes disease who survived the most severe complications of their illness or adults with occipital horn syndrome…
- Trial name
- NCT04977388
- Testing
- Droxidopa
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Stephen G. Kaler, MD
Gout
NSAID Drug Interaction Study
This is a drug-drug interaction study in healthy volunteers to evaluate the potential pharmacokinetic (PK) effects of non-steroidal anti-inflammatory drugs on lesinurad and leinurad on the non-steroidal anti-inflammatory drugs.
- Trial name
- NCT01884272
- Testing
- lesinurad 400 mg, naproxen 250 mg, indomethacin 25 mg
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Ardea Biosciences, Inc.
Lactose Intolerance
Incidence of Lactose Intolerance Among Self-reported Lactose Intolerant People
This is a 3-sites, double-blinded, randomized, 2X2 cross-over study aiming to compare effects of milk containing only A2 type beta casein versus milk containing both A1 and A2 beta casein proteins on the gastrointestinal symptoms…
- Trial name
- NCT02878876
- Testing
- Oral consumption of milk with sequence A1-A2, Oral consumption of milk with sequence A2-A1
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- a2 Milk Company Ltd.
Congenital Adrenal Hyperplasia
A Ph2b to Evaluate Tildacerfont in the Reduction of Glucocorticoid Steroid Doses in Adult CAH
An investigation of the ability of Tildacerfont to reduce supraphysiologic glucocorticoid dosing in classic Congenital adrenal hyperplasia (CAH) subjects up to 76 weeks of treatment. Optional open label extension up to 240 weeks.
- Trial name
- NCT04544410
- Where
- 43 sites in United States, Australia and 14 more
- Volunteers
- 100 people
- Sponsor
- Spruce Biosciences
Alpha Mannosidosis
Safety Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis
This is a single-center, open-label, dose escalation study of patients with alpha-mannosidosis. 10 patients will be enrolled in this study receiving intravenous infusions of Lamazym.
- Trial name
- NCT01268358
- Testing
- Lamazym
- Volunteers
- 10 people
- Sponsor
- Zymenex A/S
Niemann-Pick Diseases
Induced Pluripotent Stem Cells for Niemann Pick Disease
Establishment of individualized human cellular disease models based on induced pluripotent stem cells that reflect the broad heterogeneous phenotypic spectrum of Niemann Pick disease
- Trial name
- IPSNPABC (NCT03883750)
- Where
- Pakistan
- Volunteers
- 40 people
- Sponsor
- CENTOGENE GmbH Rostock
Mucopolysaccharidosis II
Study of Idursulfase-beta (GC1111) in Hunter Syndrome
This study evaluates the efficacy and safety of three doses of GC1111 in patients with Hunter Syndrome. Participants will be randomized to one of three doses of GC1111 or comparator.
- Trial name
- NCT02663024
- Testing
- idursulfase beta, idursulfase
- Volunteers
- 20 people
- Sponsor
- Green Cross Corporation
Transthyretin (TTR) Amyloid Cardiomyopathy
Vyndaqel Capsules Special Investigation (ATTR-CM)
Secondary Data Collection : To confirm the safety and effectiveness profiles under the actual medical practice of Vyndaqel in Japan.
- Trial name
- NCT04108091
- Testing
- Treatment for TTR amyloidosis
- Where
- Japan
- Volunteers
- 1,214 people
- Sponsor
- Pfizer
Hypercholesterolemia, Hypercholesterolemia, Familial
Evaluating the Efficacy of Pediatric Lipid Screening Alerts
The purpose of the study is to evaluate prospectively the impact of different system alerts on the prescription of lipid panels to pediatric Geisinger patients (9-11 years old), as per the now-universal guidelines.
- Conditions
- Hypercholesterolemia, Hypercholesterolemia, Familial, Hypercholesteremia in Children, Hyperlipidemia in Children
- Trial name
- NCT04118348
- Testing
- Best Practice Alert, Health Maintenance Topic
- Where
- United States
- Volunteers
- 13,340 people
- Sponsor
- Geisinger Clinic
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
Infantile GM2 Gangliosidosis (Disorder)
First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis
GM2 gangliosidoses are a group of autosomal recessive neurodegenerative diseases characterized by a deficiency of the Hex A enzyme to catabolize GM2, thereby causing GM2 accumulation within cellular lysosomes.Hex A is composed of…
- Trial name
- NCT04798235
- Testing
- TSHA-101
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Dr. Anupam Sehgal
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