Autosomal Recessive Disorder
Showing 1 - 25 of >10,000
Autosomal Recessive Disorder (Genetic Carriers of PKU) Trial in Guelph (L-Phenylalanine)
Not yet recruiting
- Autosomal Recessive Disorder (Genetic Carriers of PKU)
- L-Phenylalanine
-
Guelph, Ontario, CanadaUniversity of Guelph
Oct 31, 2023
Autosomal Recessive Disorder (Genetic Carriers of PKU) Trial in Guelph (L-Phenylalanine)
Recruiting
- Autosomal Recessive Disorder (Genetic Carriers of PKU)
- L-Phenylalanine
-
Guelph, Ontario, CanadaUniversity of Guelph
Jul 14, 2023
Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence Trial in Sioux Falls, Sydney
Recruiting
- Rare Disorders
- +309 more
-
Sioux Falls, South Dakota
- +1 more
Jun 20, 2022
People With Generalized Arterial Calcification of Infancy or
Completed
- Generalized Arterial Calcification of Infancy
- Autosomal Recessive Hypophosphatemic Rickets Type2
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Jul 6, 2022
Autosomal Recessive Ichthyosis Trial in Rancho Santa Margarita (KB105, Placebo)
Not yet recruiting
- Autosomal Recessive Ichthyosis
- KB105
- Placebo
-
Rancho Santa Margarita, CaliforniaMission Dermatology
Feb 20, 2023
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Trial in Saguenay (Rehabilitation)
Recruiting
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Rehabilitation
-
Saguenay, Quebec, CanadaGroupe de recherche interdisciplinaire sur les maladies neuromus
Mar 3, 2023
Autosomal Recessive Polycystic Kidney Disease (ARPKD) Trial in Worldwide (Tolvaptan (OPC-41061))
Recruiting
- Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- Tolvaptan (OPC-41061)
-
Washington, District of Columbia
- +9 more
Aug 8, 2022
Development of Non-Invasive Prenatal Diagnosis for Single Gene
Not yet recruiting
- Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including
- +14 more
- Blood sample
-
Paris, FranceHôpital Cochin, Maternité Port-Royal, service de Gynécologie obs
Nov 24, 2023
Hereditary Parkinson s Disease Natural History Protocol
Completed
- Parkinson Disease 6, Early-Onset
- +3 more
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Nov 8, 2022
Autosomal Recessive Polycystic Kidney (ARPKD) Trial in Worldwide (Tolvaptan Suspension, Tolvaptan Tablets)
Not yet recruiting
- Autosomal Recessive Polycystic Kidney (ARPKD)
- Tolvaptan Suspension
- Tolvaptan Tablets
-
Washington, District of Columbia
- +18 more
Jul 27, 2022
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis Trial in Bristol
Recruiting
- Adenine Phosphoribosyltransferase Deficiency
- +83 more
-
Bristol, South West, United KingdomZoe Plummer
Sep 26, 2023
Autosomal Recessive Cerebellar Ataxia Trial in France (Genetic diagnosis (PMDA panel), Use of RADIAL algorithm)
Recruiting
- Autosomal Recessive Cerebellar Ataxia
- Genetic diagnosis (PMDA panel)
- Use of RADIAL algorithm
-
Besançon, France
- +7 more
Oct 14, 2021
Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial
Not yet recruiting
- Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency
- +2 more
- INZ-701
- Control Arm (Conventional Therapy)
- (no location specified)
Sep 18, 2023
Cardiovascular Diseases, Wilson's Disease Trial
Not yet recruiting
- Cardiovascular Diseases
- Wilson's Disease
- (no location specified)
Sep 21, 2023
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial
Not yet recruiting
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
- +2 more
- (no location specified)
Feb 15, 2023
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Trial in Saguenay (Training program)
Completed
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Training program
-
Saguenay, Quebec, CanadaGroupe de recherche interdisciplinaire sur les maladies neuromus
Jul 28, 2022
TGM-1 Related Autosomal Recessive Congenital Ichthyosis Trial in Chicago, Philadelphia (KB105)
Active, not recruiting
- TGM-1 Related Autosomal Recessive Congenital Ichthyosis
- KB105
-
Chicago, Illinois
- +1 more
Sep 10, 2021
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial
Recruiting
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
- +2 more
-
Rochester, Minnesota
- +2 more
Jan 4, 2022
Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients
Active, not recruiting
- Neuronal Ceroid-Lipofuscinoses
- +2 more
-
Orange, CaliforniaChildren's Hospital of Orange County
Jul 18, 2022
P47-Phox, Deficiency of Trial in London (Lentiviral vector transduced CD34+ cells)
Not yet recruiting
- P47-Phox, Deficiency of
- Lentiviral vector transduced CD34+ cells
-
London, United KingdomGreat Ormond Street Hospital
Aug 2, 2022
Children up to 10 Years With Moderate to Profound Hearing Loss
Recruiting
- Sensorineural Hearing Loss, Bilateral
- +3 more
- Pure Tone Audiometry Assessment
- Quality of Life Questionnaires
-
Paris, FranceNecker Hospital
Nov 28, 2022
Ataxia, Spinocerebellar, Ataxias, Hereditary Trial in Gaziantep (Functional training, Routine training)
Active, not recruiting
- Ataxia, Spinocerebellar
- Ataxias, Hereditary
- Functional training
- Routine training
-
Gaziantep, Eyalet/Yerleşke, TurkeyHasan kalyoncu üniversitesi
Feb 2, 2021
Brain Metabolism Observed at 7 Tesla
Recruiting
- Glut1 Deficiency Syndrome 1
- +6 more
- Magnetic resonance imaging
-
Dallas, TexasUT Southwestern Medical Center
Aug 24, 2022
Study of Chediak-Higashi Syndrome
Recruiting
- Chediak-Higashi Syndrome
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Jan 21, 2023