Clinical trials: X-Linked Hypophosphatemia
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Muscle Weakness, XLH
Muscle Abnormalities in Children With XLH
XLH rickets is a rare disease with muscle weakness. Fat parameters such as IMAT and intraMAT could be increased in this disease.
- Trial name
- MDmuscleXLH (NCT05312086)
- Testing
- MRI
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Asthma, Vitamin D Resistant Rickets
Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients
Research Title: Evaluation of airway reactivity, allergy and inflammatory mediators in exhaled breath condensate in vitamin D resistant rickets.
- Trial name
- NCT01578824
- Testing
- Methacholine Challenge Test
- Where
- Israel
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Rambam Health Care Campus
Familial Hypophosphatemic Rickets
Calcimimetics in Hypophosphatemic Rickets
Currently, large oral doses of phosphate and 1,25(OH)2D (calcitriol) are the standard treatment of patients with familial hypophosphatemic rickets (XLH).
- Trial name
- CHR (NCT00844740)
- Testing
- Cinacalcet
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Mercy Hospital Kansas City
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
Phosphate Diabetes, X-linked Hypophosphatemia
Phosphorus-31 Spectroscopy in Phosphate Diabetes
Phosphate diabetes is defined by urinary phosphate wasting due to impaired tubular reabsorption. It can be classified based on either a genetic or acquired origin.
- Trial name
- Phos-ATP (NCT06921720)
- Testing
- intra-muscular ATP values in phosphate diabetes, intra-muscular phosphate values in phosphate diabetes
- Where
- 2 sites in France
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International