Clinical trials: Metabolic Abnormalities
Adenosine Deaminase Deficiency, Severe Combined Immunodeficiencies (SCID)
Lentiviral (LV) Gene Therapy for Adenosine Deaminase (ADA) Deficiency
This is a historically controlled, non-randomized Phase I/II clinical trial to assess the safety and efficacy of autologous transplantation of CD34+ hematopoietic stem/progenitor cells (HSPCs), obtained from infants affected by…
- Trial name
- NCT01380990
- Testing
- Infusion of autologous EFS-ADA LV CD34+ cells, Haematopoietic Stem Cell Transplantation (HSCT), Busulfan
- Where
- United Kingdom
- Volunteers
- 36 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Severe Combined Immunodeficiency
MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
Severe combined immune deficiency (SCID) may result from inherited deficiency of the enzyme adenosine deaminase (ADA). Children with ADA-deficient SCID often die from infections in infancy, unless treated with either a bone…
- Trial name
- NCT00794508
- Testing
- ADA gene transfer
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Donald B. Kohn, M.D.
Fabry Disease
Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease
The objective was to determine the effects of a single dose of migalastat hydrochloride (HCl) (migalastat) 150 and 450 milligrams (mg) on the safety and plasma pharmacokinetics (PK) of agalsidase and the effects of agalsidase on…
- Trial name
- NCT01196871
- Testing
- Migalastat HCl, Agalsidase Beta, Agalsidase Alfa
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 20 people
- Sponsor
- Amicus Therapeutics
Phenylketonurias
Open-label, Randomized, 2-way Crossover, Monocentric, Controlled Study to Evaluate the Effect on Daily PHE Fluctuation of PKU GOLIKE Versus SoC in Patients With PKU.
This is an open-label, randomized, 2-way crossover, monocentric controlled study in patients (≥ 16 years old) with phenylketonuria (PKU).
- Trial name
- NCT05827536
- Testing
- PKU GOLIKE, Standard of Care
- Where
- Italy
- Volunteers
- 21 people
- Sponsor
- APR Applied Pharma Research s.a.
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II)
Late-Onset Treatment Study Extension Protocol
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).
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II), Glycogenesis Type II, Acid Maltase Deficiency (AMD)
- Trial name
- NCT00455195
- Testing
- alglucosidase alfa
- Where
- 31 sites in United States, Australia and 3 more
- Volunteers
- 81 people
- Sponsor
- Genzyme, a Sanofi Company
Age-related Macular Degeneration, Stargardt Disease
Efficacy of Acupuncture in Macular Diseases
This is a single-arm study designed to assess the efficacy of acupuncture (Traditional Chinese Medicine) for chronic macular diseases of several types.
- Conditions
- Age-related Macular Degeneration, Stargardt Disease, Macular Dystrophy
- Trial name
- AMAD (NCT02255981)
- Testing
- Acupuncture and massage
- Where
- 2 sites in Colombia
- Volunteers
- 33 people
- Sponsor
- Escuela Neijing
Familial Amyloid Polyneuropathy, Familial Amyloidosis
The Effect of Diflunisal on Familial Amyloidosis
The purpose of this study is to determine if diflunisal can prevent progressive lower leg nerve damage in patients with familial amyloidosis polyneuropathy.
- Trial name
- NCT00294671
- Testing
- diflunisal
- Where
- 8 sites in United States, Italy and 3 more
- Volunteers
- 130 people
- Sponsor
- Boston University
Urea Cycle Disorders
Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children With Urea Cycle Disorders
Protocol HPN-100-005 was the first study of HPN-100 in pediatric subjects with urea cycle disorders (UCDs) and was a fixed-sequence, open-label, switch over study of HPN-100 with a long-term (12 month) safety extension designed…
- Trial name
- NCT00947544
- Testing
- HPN-100, NaPBA
- Where
- 8 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Amgen
Malignant Neoplasm
Ponatinib for Patients Whose Advanced Solid Tumor Cancer Has Activating Mutations Involving the Following Genes: FGFR1, FGFR2, FGFR3, FGFR4, RET, KIT.
This phase II trial studies how well ponatinib hydrochloride works in treating patients with cancer that has spread to other parts of the body (metastatic), has failed previous treatment (refractory), and has one of several…
- Trial name
- NCT02272998
- Testing
- ponatinib hydrochloride, laboratory biomarker analysis
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Sameek Roychowdhury
Pompe Disease
Response to Diaphragmatic Pacing in Subjects With Pompe Disease
The purpose of this study is to determine the effect of diaphragm pacing on respiratory function in subjects with Pompe disease by evaluating the duration and pattern of spontaneous respiratory function versus paced ventilation…
- Trial name
- NCT02354651
- Testing
- Diaphragm conditioning via phrenic nerve stimulation
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Florida
Urea Cycle Disorder
Chronic Liver Disease in Urea Cycle Disorders
This is a pilot, cross-sectional study to assess liver stiffness and markers of hepatic injury, function, and fibrosis in patients with urea cycle disorders.
- Trial name
- NCT03721367
- Testing
- Diagnostic Ultrasound
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Baylor College of Medicine
Gaucher Disease, Type 1
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)
This Phase 3 study was designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who had reached therapeutic goals with enzyme replacement therapy (ERT).
- Trial name
- ENCORE (NCT00943111)
- Testing
- Eliglustat tartrate, Imiglucerase
- Where
- 34 sites in United States, Argentina and 10 more
- Volunteers
- 160 people
- Sponsor
- Genzyme, a Sanofi Company
Inherited Metabolic Disorders (IMD)
MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT)
This study is designed to assess the safety and efficacy of using MGTA-456 in patients with Inherited Metabolic Disorders (IMD) undergoing stem cell transplantation.
- Trial name
- NCT03406962
- Testing
- MGTA-456
- Where
- 2 sites in United States
- Volunteers
- 8 people
- Sponsor
- Magenta Therapeutics, Inc.
Wilson Disease
Efficacy and Safety Study of WTX101 (ALXN1840) in Adult Wilson Disease Patients
The main purpose of the study was to evaluate the efficacy of ALXN1840 (formerly WTX101) for 24 weeks on non-ceruloplasmin-bound copper (NCC) concentrations adjusted for molybdenum plasma concentration in participants newly…
- Trial name
- NCT02273596
- Testing
- ALXN1840
- Where
- 9 sites in United States, Austria and 3 more
- Volunteers
- 29 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Friedreich Ataxia
Interferon Gamma-1b in Friedreich Ataxia (FRDA)
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy.
- Trial name
- NCT01965327
- Testing
- Interferon Gamma-1b
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Children's Hospital of Philadelphia
Phenylketonuria
Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
The aim of this pilot study is to determine if there are any changes in brain glucose metabolism in the gray matter of patients with Phenylketonuria (PKU) and whether administration of Sapropterin (KUVAN) therapy can improve such…
- Trial name
- PKU (NCT00986973)
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Children's Hospital of Philadelphia
Cerebrotendinous Xanthomatosis (CTX)
Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Iiopathic bilateral cataracts occur in many children with Cerebrotendinous Xanthomatosis (CTX) so the opportunity to use contact with health care providers in connection with pediatric cataract evaluation and treatment is a…
- Trial name
- NCT02638220
- Where
- 44 sites in United States
- Volunteers
- 442 people
- Sponsor
- Travere Therapeutics, Inc.
Fabry Disease
A 24-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease
Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease.
- Trial name
- NCT00283933
- Testing
- migalastat HCl
- Where
- 2 sites in France, United Kingdom
- Volunteers
- 5 people
- Sponsor
- Amicus Therapeutics
Congenital Adrenal Hyperplasia (CAH)
Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia
This study was developed to determine if a combination of four drugs (flutamide, testolactone, reduced hydrocortisone dose, and fludrocortisone) can normalize growth in children with congenital adrenal hyperplasia.
- Trial name
- NCT00001521
- Testing
- Fludrocortisone, Hydrocortisone, Letrozole
- Where
- United States
- Volunteers
- 66 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Hereditary Spastic Paraplegia, Adrenomyeloneuropathy
Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy
Hereditary spastic paraplegia (HSP) is the group of inherited disorders, characterized by progressive gait disturbance. There is no established therapy. Adrenoleukodystrophy (AMN) is an x-linked hereditary disease.
- Trial name
- NCT03627416
- Testing
- rTMS
- Where
- Poland
- Volunteers
- 15 people
- Sponsor
- Jakub Antczak