Clinical trials: Familial Hypophosphatemic Rickets
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
Osteogenesis Imperfecta, Rare Bone Disorders
Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through…
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked
- Trial name
- MOSAIC (NCT07666269)
- Testing
- intra-oral 3D optical impression
- Where
- France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
X-linked Hypophosphatemic Rickets/Osteomalacia
A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia
The objective of this study is to assess the safety and tolerability of KRN23 after a single subcutaneous (SC) administration in subjects with X-linked hypophosphatemic rickets/osteomalacia (XLH) in Japan or Korea.
- Trial name
- NCT02181764
- Testing
- KRN23
- Where
- 2 sites in Japan, South Korea
- Volunteers
- 15 people
- Sponsor
- Kyowa Kirin Co., Ltd.
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
Craniosynostoses
Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts
FGF23 is the cornerstone of phosphate / calcium / vitamin D metabolism: it is synthesized mainly by osteocytes and acts as a phosphaturizing agent, inhibitor of dihydroxyvitamin D, and inhibitor of synthesis and secretion of PTH…
- Trial name
- HYPO-BLASTES (NCT04159675)
- Testing
- osteoblast biology study
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Hospices Civils de Lyon
Hypophosphatemic Rickets, X-Linked Dominant
Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets
This study will measure the effect of cinacalcet (Sensipar) on parathyroid hormone (PTH) secretion in children and adolescents with hypophosphatemic rickets (XLH).
- Trial name
- NCT00195936
- Testing
- Cinacalcet
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Children's Mercy Hospital Kansas City
Osteomalacia
Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets)
Background: Hypophosphatemia is a condition where a person has low levels of phosphorus in the blood. Low blood phosphorus can cause muscle and bone weakness (such as rickets) and teeth problems.
- Trial name
- NCT01748812
- Testing
- Osteomalacia
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
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
Hypophosphatemia, Hypophosphatemic Rickets
Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets
A 52 week, open label trial to assess the safety and efficacy of KRN23, an investigational antibody to FGF23, in a single pediatric patient with Epidermal Nevus Syndrome(ENS) and associated hypophosphatemic rickets A 26 weeks…
- Conditions
- Hypophosphatemia, Hypophosphatemic Rickets, Pain, Chronic
- Trial name
- NCT03581591
- Testing
- Burosumab
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Redwood Dermatology Sciences
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
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
Epidermal Nevus Syndrome
A Trial to Assess the Safety and Efficacy of KRN23 in Epidermal Nevus Syndrome (ENS)
KRN23 is a fully human immunoglobulin monoclonal antibody (mAb) that binds to and inhibits the activity of fibroblast growth factor 23 (FGF23), leading to an increase in serum phosphorus levels.
- Trial name
- ENS (NCT04320316)
- Testing
- Crysvita (burosumab-twza) Treatment
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Alabama at Birmingham
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)
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
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
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
- 9 people
- Sponsor
- Inozyme Pharma
X-linked Hypophosphatemia (XLH)
Treatment Patterns, Biochemical Profiles and Clinical Outcomes in Adults With X-Linked Hypophosphatemia
The purpose of this study is to better understand how X-linked hypophosphatemia (XLH) affects the body and daily life. Phosphate levels are critical in managing XLH, we aim to study how these levels change in patients taking…
- Trial name
- IBIS XLH (NCT07607600)
- Testing
- No treatment given
- Where
- 23 sites in United States, Australia and 6 more
- Sponsor
- Novo Nordisk A/S
X-linked Hypophosphatemia, Hereditary Hypophosphatemia
Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls
Hereditary hypophosphatemia (XLH) is a rare, inherited disease. Loss-of-function mutation in the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) results in excess fibroblast growth factor 23…
- Trial name
- NCT04273490
- Where
- Denmark
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Hypophosphatemic Rickets, Growth Disorders
Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets
X-linked hypophosphatemic rickets (XLH) is characterized by rickets, disproportionate short stature, impaired renal phosphate reabsorption and vitamin D metabolism.
- Conditions
- Hypophosphatemic Rickets, Growth Disorders, Somatropin Therapy
- Trial name
- NCT00473187
- Testing
- somatropin
- Where
- Germany
- Sponsor
- University of Rostock
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.