Clinical trials: Generalized Arterial Calcification of Infancy
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ENPP1 Deficiency
The purpose of this study is to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of multiple ascending doses of INZ-701, an ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) enzyme…
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy
- Trial name
- NCT04686175
- Testing
- INZ-701
- Where
- 7 sites in United States, Canada and 3 more
- Volunteers
- 13 people
- Sponsor
- Inozyme Pharma
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Generalized Arterial Calcification of Infancy
Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 Deficiency
The purpose of this prospective study is to characterize the natural history of ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency longitudinally.
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets, Adenosine Triphosphate Binding Cassette Transporter Protein Subfamily C Member 6
- Trial name
- NCT05050669
- Testing
- No Intervention for this observational study
- Where
- 5 sites in United States, Canada and 1 more
- Volunteers
- 12 people
- Sponsor
- Inozyme Pharma
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency
The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy, ATP-Binding Cassette Subfamily C Member 6 Deficiency
- Trial name
- ENERGY (NCT05734196)
- Testing
- INZ-701
- Where
- 5 sites in United States, Spain and 1 more
- Volunteers
- 9 people
- Sponsor
- Inozyme Pharma
Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency
PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency
The purpose of this prospective registry is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase1(ENPP1) Deficiency and the infantile-onset form of adenosine triphosphate (ATP) binding cassette…
- Trial name
- NCT06302439
- Testing
- No Intervention for this observational study
- Where
- 14 sites in United States, Canada and 7 more
- Volunteers
- 54 people
- Sponsor
- Inozyme Pharma
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
The ENABLE Study: Safety and Efficacy Study of INZ-701 in Patients With ENPP1 Deficiency
The purpose of Study INZ701-108 (ENABLE) is to assess the safety and efficacy of INZ-701 in patients 1 year of age and older with ENPP1 Deficiency who have not previously received INZ-701 and are not eligible for existing…
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy 1
- Trial name
- NCT06739980
- Testing
- INZ-701
- Sponsor
- Inozyme Pharma
Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets Type 2
Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency
To date, the investigators lack characterization of, the burden of, and the systemic progression of disease in ENPP1 deficiency and ABCC6 deficiency from a patient and/or parent perspective.
- Trial name
- NCT04372446
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Inozyme Pharma
Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
The ENERGY 3 Study: Evaluation of Efficacy and Safety of INZ-701 in Children With ENPP1 Deficiency
The primary purpose of Study INZ701-106 (The ENERGY 3 Study) is to assess the efficacy and safety of INZ-701 in children with ENPP1 Deficiency.
- Conditions
- Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy
- Trial name
- NCT06046820
- Testing
- INZ-701, Control Arm (Conventional Therapy)
- Where
- 11 sites in United States, Australia and 6 more
- Volunteers
- 27 people
- Sponsor
- Inozyme Pharma
Gene Mutations, Pseudoxanthoma Elasticum
ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency
The purpose of this study (Study INZ701-304 [ADAPT]) is to assess the long-term safety of INZ-701 in patients with ENPP1 Deficiency or ABCC6 Deficiency who have received INZ-701 in an existing clinical study and choose to…
- Conditions
- Gene Mutations, Pseudoxanthoma Elasticum, Arterial Calcification, Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
- Trial name
- NCT06462547
- Testing
- INZ-701
- Where
- 5 sites in United States, France and 2 more
- Volunteers
- 22 people
- Sponsor
- Inozyme Pharma
ATP-Binding Cassette Subfamily C Member 6 Deficiency, Pseudoxanthoma Elasticum
Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ABCC6 Deficiency Causing PXE
The purpose of this study is to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics PD) of multiple ascending doses of INZ-701, an ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) recombinant…
- Conditions
- ATP-Binding Cassette Subfamily C Member 6 Deficiency, Pseudoxanthoma Elasticum, Generalized Arterial Calcification of Infancy
- Trial name
- NCT05030831
- Testing
- INZ-701
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 10 people
- Sponsor
- Inozyme Pharma
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
ENERGY 2: Evaluation of the Efficacy and Safety of INZ-701 in Infants With ENPP1 Deficiency
The primary purpose of ENERGY 2 (Study INZ701-105) is to assess the efficacy and safety of INZ-701 in infants with ENPP1 Deficiency.
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy 1
- Trial name
- NCT07473973
- Testing
- INZ-701
- Where
- 8 sites in Brazil, France and 6 more
- Volunteers
- 2 people
- Sponsor
- Inozyme Pharma
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency
Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
The purpose of this study is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency and the early-onset form of adenosine triphosphate binding cassette transporter subfamily C…
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets
- Trial name
- NCT07745179
- Where
- 8 sites in United States, France and 2 more
- Volunteers
- 23 people
- Sponsor
- Inozyme Pharma
Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets Type2
Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)
Background: Generalized Arterial Calcification of Infancy (GACI) is a very rare disorder. It can be fatal before birth or by age 6 months. Anumber of people with GACI survive into adulthood.
- Trial name
- NCT03478839
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets
Natural History of GACI With or Without ARHR2 or PXE
Generalized arterial calcification of infancy (GACI) is an ultra-rare disorder with an estimated birth prevalence of around 1 in 400,000.1 GACI is generally fatal before birth or within the first six months after birth.
- Conditions
- Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets, Pseudoxanthoma Elasticum
- Trial name
- NCT03758534
- Testing
- No intervention
- Where
- Germany
- Volunteers
- 80 people
- Sponsor
- Universität Münster